CURRICULUM VITAE Personal Information Education VITAE Personal Information ... Espiner EA, Mackenzie WG, Duker A, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, ... CURRICULUM

Arthur S. Aylsworth, M.D.

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CURRICULUM VITAE

Personal Information

Name Arthur Selden Aylsworth

Home Address 714A Greenwood Road, Chapel Hill, NC 27514

Home Phone (919) 942-7817

Office Address CB# 7487 - UNC Campus The University of North Carolina at Chapel Hill (UNC-CH) Chapel Hill, NC 27599-7487

Office Phone - 919 966-4202; Fax - 919-966-3025

Email [email protected]

Education

1982-1983 Visiting Associate Research Professor, Department of Medicine, Duke University, Durham, NC

1970-1971 Research Fellow, Florida Heart Association

1969-1971 Post-Doctoral Fellow, Department of Pediatrics and the Institutional Division of Genetics, Endocrinology, and Metabolism, University of Florida College of Medicine, Gainesville, FL

1967-1969 Intern and Resident in Pediatrics, University of Florida College of Medicine, Shands Teaching Hospital, Gainesville, FL

1967 M.D., University of Pennsylvania School of Medicine, Philadelphia, PA

1963 B. Engineering Physics, Cornell University College of Engineering, Ithaca, NY

Professional Experience - Employment History

2001 - Research Professor, Dept. of Genetics, UNC-CH

2001 - Member, UNC-CH Center for Genome Science

1995 - 2004 Chief, Division of Genetics and Metabolism, Dept. of Pediatrics, UNC-CH 1991-95 Acting Div. Chief, Pediatric Genetics and Metabolism, UNC-CH

1993 - Professor, Dept. of Pediatrics, Div. of Genetics and Metabolism, UNC-CH 1980 - 1993 Associate Prof., Dept. of Pediatrics, Div. Genetics and Metabolism, UNC-CH. 1975 - 1980 Assistant Prof., Dept. of Pediatrics, Div. Genetics and Metabolism, UNC-CH.

1980 - 2001 Research Scientist, the Neuroscience Center at UNC-CH (formerly Brain and Development Research Center, formerly Biological Sciences Research Center)

1977 - 1995 Director, Genetic Counseling Program, UNC-CH (Acting Director, 1976 - 1977)

1974 - Member, UNC Craniofacial Center (formerly the Oral-Facial and Communicative Disorders Program), UNC-CH

1974 - Medical Staff, University of North Carolina Hospitals, Chapel Hill

1973 - 1975 Instructor, Dept. of Pediatrics, Div. of Genetics and Metabolism, UNC-CH.

1971 - 1973 Major, U.S. Air Force Medical Corps; Staff Pediatrician, Wilford Hall Medical Center, Lackland Air Force Base, Texas.

mailto:[email protected]


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Certification/Licensure

American Board of Medical Genetics (#1016, Clinical Genetics, 3/19/82)

Board of Medical Examiners, State of North Carolina (#19042, 1/26/74)

American Board of Pediatrics (#15965, 5/14/73)

Board of Medical Examiners, State of Florida (#14897, 3/6/70; inactive)

National Board of Medical Examiners (#94856, 4/21/69)

Professional Societies

American Society of Human Genetics

American College of Medical Genetics (Founding Fellow)

North Carolina Pediatric Society

North Carolina Medical Genetics Association Chairman, Dysmorphology Committee, 1990 - 92 Chairman, Planning and Advisory Committee, 1986-87 Chairman, 1985-86 Vice-Chairman, 1984-85

American Medical Association

American Academy of Pediatrics

Bone Dysplasia Society

Special Honors and Awards

“Best Doctors in America,” 2011 - 2014

The National Neurofibromatosis Foundation Recognition Award, 1989.

Recipient, Travel Award from the American Society of Human Genetics for the Seventh International Congress of Human Genetics, Berlin, Sept., 1986.

Kenan Leave, 7/1/82-6/30/83, The University of North Carolina

PUBLICATIONS

Contributions to Books and Series

Aylsworth, AS: “The Spleen.” Chapter in Human Malformations, 3rd Ed, Oxford Monographs on

Medical Genetics, RE Stevenson, JG Hall, DB Everman, BD Solomon, Eds. Oxford Press 2015.

Includes entries on “Introduction,” “Accessory Spleens,” “Ectopic Spleen,” “Splenic Structural

Variation,” “Splenic Fusion to Other Organs,” “Asplenia,” and “Polysplenia.”

Aylsworth, AS: “Laterality.” Entries in Human Malformations, 3rd Ed, Oxford Monographs on

Medical Genetics, RE Stevenson, JG Hall, DB Everman, BD Solomon, Eds. Oxford Press 2015.

Includes entries on “Situs Ambiguus” and “Situs Inversus.”

Watkins SE, Meyer RE, Strauss RP, Aylsworth AS: “Classification, Epidemiology, and Genetics of Orofacial Clefts,” Clin Plast Surg. 2014 Apr;41(2):149-63. PMID:24607185


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Krantz IA, Aylsworth AS: Liver, Gallbladder, and Pancreas. Chapter 27 in Human Malformations and Related Anomalies, 2nd Edition, Oxford Monographs on Medical Genetics, R.E. Stevenson, J.G. Hall, et al. Eds., Oxford Press, 2006.

Aylsworth, A.S.: The Spleen. Chapter 5 Human Malformations and Related Anomalies, 2nd Edition, Oxford Monographs on Medical Genetics, R.E. Stevenson, J.G. Hall, et al, Eds., Oxford Press, 2006.

Aylsworth, AS: Clinical Genetics and Phenotype Definition. Chapter 2 in Genetic Analysis of Complex Disease, 2nd edition. JL Hains and MA Pericak-Vance eds, New York: Wiley-Liss, Inc., 2006.

Aylsworth AS: Genotype. Encyclopedia of Human Development, N. J. Salkind Ed, Sage Publications, 2005.

Aylsworth AS: Phenotype. Encyclopedia of Human Development, N. J. Salkind Ed, Sage Publications, 2005.

Aylsworth AS: Mechanisms of Inheritance. Encyclopedia of Genetics, Genomics, Proteomics, and Bioinformatics, Volume I Genetics, L. B. Jorde, Ed., John Wiley and Sons, 2005.

Aylsworth AS: Defining Disease Phenotypes. Chapter 3 in Approaches to Gene Mapping in Complex Human Diseases, JL Hains and MA Pericak-Vance eds, Wiley-Liss, Inc., 1998.

Aylsworth, A.S.: Genetic Considerations in Craniofacial Birth Defects. Chapter 2 in Principles and Management of Facial Clefting Disorders and Craniosynostosis. W.B. Saunders, Philadelphia, 1996.

Aylsworth A.S., Sulik K.K.: Liver, Gallbladder, and Pancreas. Chapter 18 in Volume II of Human Malformations and Related Anomalies, Oxford Monographs on Medical Genetics no. 27, R.E. Stevenson, J.G. Hall, R.M. Goodman, Eds., Oxford Press, 1993, pp. 445 - 474.

Aylsworth, A.S.: The Spleen. Chapter 11 in Volume II of Human Malformations and Related Anomalies, Oxford Monographs on Medical Genetics no. 27, R.E. Stevenson, J.G. Hall, R.M. Goodman, Eds., Oxford Press, 1993, pp. 307-321.

Aylsworth, A.S.: Genetic counseling for patients with birth defects. Pediatric Clinics of North America, 39:229-253, 1992

Aylsworth, A.S.: The prediction of risk and genetic counseling for craniofacial abnormalities. In Risk Assessment in Dentistry. J.D. Bader, Ed., Published by the University of North Carolina Department of Dental Ecology, Chapel Hill, 1990, pp 261-266.

Aylsworth, A.S.: Anus-Hand-Ear Syndrome. Birth Defects Encyclopedia, Center for Birth Defects Information Services, Cambridge, Mass. and Blackwell Scientific Publications, St. Louis, Mo., 1990

Aylsworth, A.S.: Genetic Considerations in Clefts of the Lip and Palate. Reprinted in Selected Readings in Plastic Surgery, vol. 5, #20, 1989.

Aylsworth, A.S.: Genetic Considerations in Clefts of the Lip and Palate. Clinics in Plastic Surgery 12(4):533-542, 1985.

Greenwood, R.S., Kahler, S.G., and Aylsworth, A.S.: Inherited metabolic diseases, Chapter 9 in Pediatric Neurology (3rd ed.), T.W. Farmer, Editor. Harper and Row, Philadelphia, 1983, pp. 281-401.

Aylsworth, A.S., and Kirkman, H.N.: Genetic counseling for autosomal dominant disorders with incomplete penetrance. Birth Defects Original Article Series 15(5C):25-38, 1979.


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Buchanan, P.D., Rao, K.W., Doerr, C.L., and Aylsworth, A.S.: A complex translocation involving chromosomes 3,11, and 14 with an interstitial deletion, del (14) (q13-q22) in a child with congenital glaucoma and cleft lip and palate. Birth Defects Original Article Series 14(6C):317-322, 1978.

Rao, K.W., Buchanan, P.D., and Aylsworth, A.S.: Asymmetric clinical and cytogenetic findings in a 4-year-old girl with trisomy 18 mosaicism. Birth Defects Original Article Series 14(6C):349-354, 1978.

Wilson, W.G., Aylsworth, A.S., Folds, J.D., and Whisnant, J.K.: Cartilage-hair hypoplasia with combined immune deficiency: variable expression and development of immunologic function in siblings. Birth Defects Original Article Series 14 (6A):117-129, 1978.

Aylsworth, A.S.: The burden and prevention of genetic diseases and their consequences. Part I: Malformations. In Perspectives in Primary Prevention. Proceedings of the Fourteenth Annual John W. Umstead Series of Distinguished Lectures. Published by the North Carolina Division of Mental Health and Mental Retardation Services, 1978, pp. 120-130.

Submitted to Refereed Journals

Warren J, Correa A, Herring AH, Olshan AF, Aylsworth AS, Langlois P,; Luben T, Stingone JA: Modeling Daily Windows of Susceptibility for Maternal PM2.5 Exposure and Congenital Heart Defects. Environmental Health Perspectives, submitted Nov 2014

Published in Refereed Journals

Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière J-B, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel J-L, Stevenson RE, Friez MJ, Aylsworth AS: Ten New Cases Further Delineate the Syndromic Intellectual Disability Phenotype Caused by Mutations in DYRK1A. Submitted to European Journal of Human Genetics, In Press, 2015

Olney RC, Prickett TCR, Espiner EA, Mackenzie WG, Duker A, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB: C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. In press, The Journal of Clinical Endocrinology & Metabolism. Nov, 2014.

Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, Aylsworth AS, Kaiser-Rogers K, Ferns SJ, Lalani SR, and Ware SM: Aortopathy in the 7q11.23 microduplication syndrome. In Press, American Journal of Medical Genetics, Oct 2014

Blatt J, Powell CM, Burkhart CN, Stavas J, Aylsworth AS: Genetics of Hemangiomas, Vascular Malformations, and Primary Lymphedema, J Pediatr Hematol Oncol. 2014; 36:587-93. PMID 25222064

Stingone JA, Luben TJ, Daniels JL, Fuentes M, Richardson DB, Aylsworth AS, Herring AH, Anderka M, Botto L, Correa A, Gilboa SM, Langlois PH, Mosley B, Shaw GM, Siffel C, Olshan AF. Maternal exposure to criteria air pollutants and congenital heart defects in offspring: results from the national birth defects prevention study. Environ Health Perspect. 2014;122(8):863-72. PMID:24727555.

Milam RW, Jr., Cabrera MT, Carter LA, Warner DD, Wereszczak JK, Aylsworth AS. Further support for first-trimester disruption causing the oromandibular-limb hypogenesis spectrum of anomalies. Clin Dysmorphol. 2014;23(3):101-4. PMID:24859495


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McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM, Jr., Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5. Am J Hum Genet. May 1, 2014;94:1-11. PMID:24726473

Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJM, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC-H, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. American Journal of Medical Genetics Part A Aug 2013;161A(8):1833-1852. PMID:23813913

Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain : a journal of neurology. 2013;136(Pt 2):536-48. PMID:23361065

Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. Am J Med Genet A. 2013;161(1):198-202. PMID:23239541

Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger H, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Art Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev S, Steiner CE, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M: Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. J Med Genet. 2012;49(7):473-9. PMID:22791840

Vatta M, Tennison MB, Aylsworth AS, Turcott CM, Guerra MP, Eng CM, Yang Y. A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset. Journal of Child Neurology. 2012;27(6):811-4. PMID:22596016

Schendel DE, Diguiseppi C, Croen LA, Fallin MD, Reed PL, Schieve LA, Wiggins LD, Daniels J, Grether J, Levy SE, Miller L, Newschaffer C, Pinto-Martin J, Robinson C, Windham GC, Alexander A, Aylsworth AS, Bernal P, Bonner JD, Blaskey L, Bradley C, Collins J, Ferretti CJ, Farzadegan H, Giarelli E, Harvey M, Hepburn S, Herr M, Kaparich K, Landa R, Lee LC, Levenseller B, Meyerer S, Rahbar MH, Ratchford A, Reynolds A, Rosenberg S, Rusyniak J, Shapira SK, Smith K, Souders M, Thompson PA, Young L, Yeargin-Allsopp M. The Study to Explore Early Development (SEED): a multisite epidemiologic study of autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) network. J Autism Dev Disord. 2012;42(10):2121-40. PMID:22350336

Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European Journal of Human Genetics : 2012;20(7):754-61. PMCID: 3376272. PMID:22317977


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Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG. Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. Neurogenetics. 2012;13(1):31-47. PMID: 22218741; http://www.springerlink.com/content/f65624264lqxhj26/

Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet. 2012;131(1):145-56. PMID:21800092 http://www.springerlink.com/content/k858w417w160475q/

Jain N, Reitnauer P, Rao K, Aylsworth A, Calikoglu A: Autoimmune polyendocrinopathy associated with ring chromosome 18. Journal of Pediatric Endocrinology and Metabolism, 2011 24:9-10 , 847-850. PMID:22145491 http://www.reference-global.com/doi/pdfplus/10.1515/JPEM.2011.320.

Haeri S, Dever PL, Kaiser-Rogers KA, Moylan VJ Jr., Torchia BS, Horton AL, Wolfe HM, Laramore A, Aylsworth AS: Deletion of Hepatocyte Nuclear Factor-1-Beta in an Infant with Prune Belly Syndrome. Am J Perinatology, 2010, Aug;27(7):559-63. PMID: 20175044. http://www.ncbi.nlm.nih.gov/pubmed/20175044

Rosenfeld JA, Ballif BC, Martin DM, Aylsworth AS, Bejjani BA, Torchia BS, Shaffer LG: Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Human Genetics, (2010) 127:421–440. PMID:20066439 http://www.springerlink.com/content/e64226732m5m855m/fulltext.pdf

Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W,Vandezande K, Waldman JD, White RI, Williams CA, Marchuk DA. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome. Am J Med Genet Part A 152A:333–339, 2010. PMID: 20101697 http://www3.interscience.wiley.com/journal/123262101/abstract

Rosenfeld JA, Ballif BC, Lucas A, Spence JE, Powell C, Aylsworth AS, Torchia BA, Shaffer LG: Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome. PLoS One. 2009 Aug 10;4(8):e6568. PMCID: PMC2719055.

Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik-Zaccai T, Lewin SO, Lott IT, McGillivray BC, Moeschler JB, Pettenati MJ, Pueschel SM, Rao KW, Shaffer LG, Shohat M, Van Riper AJ, Warburton D, Weissman S, Gerstein MB, Snyder M, Korenberg JR. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci USA. 2009 Jul 21;106(29):12031-6. PMCID: PMC2709665

Slickers JE, Olshan AF, Siega-Riz AM, Honein MA, Aylsworth AS (National Birth Defects Prevention Study): Maternal Body Mass Index and Lifestyle Exposures and the Risk of Bilateral Renal Agenesis or Hypoplasia. Am J Epidemiol. 2008 Dec 1;168(11):1259-67. PMID: 18835865 http://aje.oxfordjournals.org/cgi/reprint/168/11/1259

http://www.springerlink.com/content/f65624264lqxhj26/

http://www.springerlink.com/content/k858w417w160475q/

http://www.reference-global.com/doi/pdfplus/10.1515/JPEM.2011.320

http://www.reference-global.com/doi/pdfplus/10.1515/JPEM.2011.320

http://www.ncbi.nlm.nih.gov/pubmed/20175044

http://www.springerlink.com/content/e64226732m5m855m/fulltext.pdf

http://www3.interscience.wiley.com/journal/123262101/abstract

http://www.ncbi.nlm.nih.gov/pubmed/19597142?ordinalpos=1&itool=Email.EmailReport.Pubmed_ReportSelector.Pubmed_RVDocSum

http://www.ncbi.nlm.nih.gov/pubmed/19597142?ordinalpos=1&itool=Email.EmailReport.Pubmed_ReportSelector.Pubmed_RVDocSum

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Stamm DS, Powell CM, Jeffrey M. Stajich JM, Zismann VL, Stephan DA, Chesnut B, Aylsworth AS, Kahler SG, Deak KL, Gilbert JR, Speer MC: Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology, 71:, 2008. PMID: 18843099

Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Speer MC, Powell CM: Native American Myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. Am J Med Genet A, 146A(14):1832-1841, Jun 13, 2008. PMID: 18553514 http://www3.interscience.wiley.com/cgi-bin/fulltext/119877490/HTMLSTART

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Sulagna Saitta S, Shaikh T: The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q42 microdeletion syndrome. Genetics in Medicine 9(9):607-616, September, 2007.

*Kranz C, *Basinger AA [*contributed equally], Güçsavaş-Çalıkoğlu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH: Expanding Spectrum of Congenital Disorder of Glycosylation Ig (CDG-Ig): Siblings with Prenatal-Onset Skeletal Dysplasia, Hypogammaglobulinemia, Cardiac and Genital Malformations, and Fatal Outcome. Am J Med Genet A 143A(12):1371-1378, Jun 15, 2007. http://www3.interscience.wiley.com/cgi-bin/fulltext/114263439/PDFSTART

Scanga L, Chaing S, Powell C, Aylsworth AS, Harrell LJ, Henshaw NG, Civalier CJ, Thorne LB, Weck K, Booker J, Gulley ML: Diagnosis of human congenital cytomegalovirus infection by amplification of viral DNA from dried blood spots on perinatal cards. J Mol Diagn., 8(2):240-5, May, 2006. PMCID: PMC1867599

Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, Steele L, Ray PN, Weksberg R: New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome. Cytogenet Genome Res, 113(1-4):313-7, 2006. http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=CGR20061131_4313

Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner J, Peters K, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM Jr, Grange K, Guttmacher AE, Hannibal M, Henn W, Hennekam RCM, Holmes LB, Hoyme HE, Leppig KA, Lin AE, MacLeod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MM, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA III, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GCM, Biesecker LG: Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Human Genet,76(4):609-622, 2005 Apr. PMCID: PMC1199298

Rampersaud E, Bassuk AG, Enterline DS, George TM, Siegel DG, Melvin EC, Aben J, Allen J, Aylsworth A, Brei T, Bodurtha J, Buran C, Floyd LE, Hammock P, Iskandar B, Ito J, Kessler JA, Lasarsky N, Mack P, Mackey J, McLone D, Meeropol E, Mehltretter L, Mitchell LE, Oakes WJ, Nye JS, Powell C, Sawin K, Stevenson R, Walker M, West SG, Worley G, Gilbert JR, Speer MC. Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10. J Med Genet. 2005 Dec;42(12):940-6. Epub 2005 Apr 14. PMCID: PMC1735960

Quigley DI, Kaiser-Rogers K, Aylsworth AS, Rao KW: Submicroscopic Deletion 9(q34.3) and Duplication 19(p13.3): Identified by Subtelomere Specific FISH Probes. Am J Med Genet, 125A:67-72, 2004Feb

de Mollerat XJ, Everman DB, Morgan CT, Clarkson KB, Rogers RC, Colby RS, Aylsworth AS, Graham JM Jr, Stevenson RE, Schwartz CE: P63 Mutations Are Not a Major Cause of

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Nonsyndromic Split Hand/Foot Malformation. Journal of Medical Genetics, 40(1): 55-61, 2003 Jan. PMCID: PMC1735259

Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, Ferreira de Lima RLL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC: Mutations in Interferon Regulatory Factor 6 cause Van der Woude and Popliteal Pterygium syndromes. Nature Genetics, 32(2):285-9, 2002 October.

Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K: Childhood-Onset Ataxia: Testing for Large CAG-Repeats in SCA2 and SCA7. Am J Med Genet, 110(4):338-45, 2002 Jul

Lia-Baldini AS. Muller F. Taillandier A. Gibrat JF. Mouchard M. Robin B. Simon-Bouy B. Serre JL. Aylsworth AS. Bieth E. Delanote S. Freisinger P. Hu JC. Krohn HP. Nunes ME. Mornet E. A molecular approach to dominance in hypophosphatasia. Human Genetics. 109(1):99-108, 2001

Aylsworth AS: Clinical aspects of defects in the determination of laterality. Am J Med Genet, 101:345-355, 2001.http://www3.interscience.wiley.com/cgi-bin/fulltext/83502190/PDFSTART

Elder DA, Kaiser-Rogers K, Aylsworth AS, Calikoglu AS: Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome. Am J Med Genet, 101(1):17-19, 2001

Ewart-Toland A, Yankowitz J, Winder A, Imagire R, Cox VA, Aylsworth AS, Golabi M: Oculoauriculovertebral abnormalities in children of diabetic mothers. Am J Med Genet, 90:303-309, 2000.

Ashley-Koch A, Wolpert CM, Menold MM, Zaeem L, Basu S, Donnelly SL, Ravan SA, Powell CM, Qumsiyeh MB, Aylsworth AS, Vance JM, Gilbert JR, Wright HH, Abramson RK, DeLong GR, Cuccaro ML, Pericak-Vance MA: Genetic studies of autistic disorder and chromosome 7. Genetic Studies of Autistic Disorder and Chromosome 7. Genomics 61(3)(Nov) 1999: 227-236.

Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F: Mutation analysis of core binding factor A1 (CBFA1) in patients with cleidocranial dysplasia. Am J Hum Genet, 65:1268-78, 1999.

Gilbert JR, Guy V, Kumar A, Wolpert C, Kandt R, Aylesworth[sic] A, Roses AD, Pericak-Vance MA: Mutation and Polymorphism Analysis in the Tuberous Sclerosis 2 (TSC2) gene Neurogenetics 1:267-272, 1998.

Du Y-Z, Dickerson C, Aylsworth AS, Schwartz CE: A silent mutation, C924T (G308G), in the L1CAM gene results in X-linked hydrocephalus (HSAS). J Med Genet, 35:456-462, 1998.

Reitnauer PJ, Callanan NP, Farber RA, Aylsworth AS: Prenatal exposure to disulfiram implicated in the cause of malformations in discordant monozygotic twins. Teratology, 56(6):358-362, 1997 Dec.

Gebbia M, Ferrero GB, Pilia G, Aylsworth AS, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlesinger D, Nelson DL, Casey B. X-linked situs abnormalities result from mutations in ZIC3. Nature Genet 17(3):305-309 (1997).

Scott WK, Gaskell PC, Lennon F, Wolpert CM, Menold MM, Aylsworth AS, Warner C, Farrell CD, Boustany R-MN, Albright SG, Boyd E, Kingston HM, Cumming WJK, Vance JM, Pericak-Vance MA: Locus heterogeneity, anticipation, and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. Neurogenetics, 1(2):95-102, 1997.



9

Gutmann DH, Aylsworth A, Carey J, Korf B, Marks J, Pyeritz R, Rubenstein A, Viskochil D: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278:51-57, 1997.

Hansen WF, Bernard LE, Langlois S, Rao KW, Chescheir NC, Aylsworth AS, Smith DI, Robinson WP, Barrett IJ, Kalousek DK: Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenatal Diagnosis, 17:443-450, 1997.

Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JHM, Owen MJ, Zabel BU, Mertelsmann R, Olsen BR: Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell, 89(5):773-779, 1997 (May 30).

Gladwin A, Donnai D, Metcalfe K, Schrander-Stumpel C, Brueton L, Verloes A, Aylsworth A, Toriello H, Winter R, Dixon M: Localisation of a gene for oculodentodigital syndrome to human chromosome 6q22-24. Hum.Mol.Genet. 6(1):123-127, 1997 (Jan)

Vaughn BV, Greenwood RS, Aylsworth AS, Tennison MB: Similarities of EEG and seizures in del(1q) and benign Rolandic epilepsy. Pediatr.Neurol. 15(3):261-264, 1996 (Oct)

Bellus GA, McIntosh I, Szabo J, Aylsworth A, Kaitila I, Francomano CA: Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene. Annals of the New York Academy of Sciences, 785:182-187, 1996.

Wells SR, Kuller JA, Rao KW, Aylsworth AS: Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(1q) and del(Xq). Clinical Genetics, 49:216-219, 1996.

May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M, Schwartz C: Molecular analysis of four males with MR and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. Human Molecular Genetics, 4:1465-1466, 1995.

Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA: A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nature Genetics 10:357359, July, 1995.

Estabrooks LL, Rao KW, Driscoll DA, Crandall BF, Dean JCS, Ikonen E, Korf B, Aylsworth AS: A preliminary phenotypic map of chromosome 4p16 based on 4p deletions. Am J Med Genet 57(4):581-586, July, 1995.

Heim RA, Kam-Morgan LNW, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC: Distribution of thirteen new, truncating mutations in the neurofibromatosis 1 gene. Hum Molec Genet, 4:975-981, 1995.

Albright SG, Lachiewicz AM, Tarleton JC, Rao KW, Schwartz CE, Richie R, Tennison MB, Aylsworth AS: Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28. Am J Med Genet 51:294-297, 1994.

Estabrooks LL, Lamb AN, Aylsworth AS, Callanan NP, Rao KW: Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. J Med Genet, 31:103-107, 1994.

Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth AS, Lachiewicz A: An extensive de novo deletion removing FMR-1 in a patient with fragile X syndrome. Human Molecular Genetics, 2(11):1973-1974, Nov. 1993

Kylstra JA, Aylsworth AS: Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1. Canad J Ophthal, 28:79-80, 1993


10

Willems PJ, Vits L, Raeymaekers P, Beuten J, Coucke P, Holden JJA, Van Broeckhoven C, Warren ST, Sagi M, Robinson D, Dennis N, Friedman KJ, Magnay D, Lyonnet S, White BN, Wittwer BH, Aylsworth AS, Reicke S: Further localization of X-linked hydrocephalus in the chromosomal region Xq28. Am. J. Hum. Genet. 51:307-315, 1992.

Christian CL, Lachman RS, Aylsworth AS, Fujimoto A, Gorlin RJ, Lipson MH, and Graham JM: Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. Am. J. Medical Genetics, 41:508-514, 1991

Cameron TH, Lachiewicz AM, Aylsworth AS: Townes-Brocks syndrome in two mentally retarded youngsters Am. J. Medical Genetics 41:1-4, 1991

Aylsworth AS, Lin AE, Friedman PA: Nager acrofacial dysostosis: male-to-male transmission in two families. Am. J. Medical Genetics 41:83-88, 1991

Murayama K, Greenwood RS, Rao KW, Aylsworth AS: Neurological aspects of del(1q) syndrome. Am. J. Medical Genetics, 40:488-492, 1991

Watson WJ, Katz VL, Albright SG, Rao KW, Aylsworth AS: Monozygotic twins discordant for partial trisomy one. Obstetrics and Gynecology, 76:949-951, 1990

Estabrooks, L.L., Rao, K.W., Donahue, R.P., and Aylsworth, A.S.: Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3). Am. J. Medical Genetics, 36:306-309, 1990

Katz, V.L., Aylsworth, A.S., and Albright, S.G.: Iniencephaly is not uniformly fatal. Prenatal Diagnosis, 9:595-99, 1989.

Vance, J.M., Pericak-Vance, M.A., Yamoka, L.H., Speer, M.C., Rosenwasser, G.O.D., Small, K., Gaskell, P.C., Hung, W., Alberts, M.J., Haynes, C.S., Gilbert, J.R., Aylsworth, A.S., and Roses, A.D.: Genetic linkage mapping of chromosome 17 markers and peripheral neurofibromatosis type I. Am. J. Human Genet. 44:25-29, 1989.

Pericak-Vance, M.A., Yamaoka, L.H., Vance, J.M., Small, K., Rosenwasser, G.O.D., Hung, W-Y, Alberts, M.J., Haynes, C.S., Speer, M.C., Gilbert, J.M., Herbstreith, M., Aylsworth, A.S. and Roses, A.D.: Genetic linkage studies of chromosome 17 RFLPS in von Recklinghausen neurofibromatosis (NF1). Genomics 1:349-352, 1987.

Lachiewicz, A.M., Gullion, C.M., Spiridigliozzi, G.A., Aylsworth, A.S.: Declining IQ scores of young males with the fragile X syndrome. American Journal of Mental Retardation 92:272-278, 1987.

Diehl, S.R., Boehnke, M., Collins, F.S., Erickson, R.P., Karolyi, I.J., Ploughman, L.M., Pericak-Vance, M.A., Aylsworth, A.S. and Roses, A.D.: Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8. Journal of Medical Genetics 24(9):532-534, 1987.

Pericak-Vance, M.A., Yamaoka, L.H., Vance, J.M., Aylsworth, A.S., Rosenwasser, G.O.D., Gaskell, P.C., Alberts, M.J., Hung, W., Haynes, C. and Roses, A.D.: Linkage Studies in Peripheral Neurofibromatosis. Journal of Medical Genetics 24(9):530-53,2 1987

Stevenson, R.E., Kelly, J.C., Aylsworth, A.S., Phelan, M.C.: Vascular Basis for Neural Tube Defects. Pediatrics 80:102-106, July, 1987.

Seizinger, B.R., Rouleau, G.A., Ozelius, L.J., Lane, A.H., Faryniarz, A.G., Chao, M.V., Huson, S., Korf, B.R., Parry, D.M., Pericak-Vance, M.A., Collins, F.S., Hobbs, W.J., Falcone, B.G., Iannazzi, J.A., Roy, J.C., StGeorge-Hyslop, P.S., Tanzi, R.E., Bothwell, M.A., Upadhyaya, M., Harper, P., Goldstein, A.E., Hoover, D.L., Bader, J.L., Spence, M.A., Mulvihill, J.J., Aylsworth, A.S., Vance, J.M., Rossenwasser, G.O.D., Gaskell, P.C., Roses, A.D., Martuza, R.L., Breakefield, X.O., and


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Gusella, J.F.: Genetic Linkage of Von Recklinghausen Neurofibromatosis to the Nerve Growth Factor Receptor Gene. Cell 49:589-594, 1987.

Reed, S.D., Hall, J.G., Riccardi, V.M., Aylsworth, A.S., and Timmons, C.: Chromosomal Abnormalities Associated with Congenital Contractures (Arthrogryposis). Clinical Genetics 27:353-372, 1985.

Aylsworth, A.S., Seeds, J.W., Guilford, W.B., Burns, B., and Washburn, D.B.: Prenatal Diagnosis of a Severe Deforming Type of Osteogenesis Imperfecta. American Journal of Medical Genetics 19:707-714, 1984.

Kahler, S.G., Burns, J.A., and Aylsworth, A.S.: A Mild Autosomal Recessive Form of Osteopetrosis. American Journal of Medical Genetics 17:451-464, 1984.

Ozimek, C.D., Grimson, R.C., and Aylsworth, A.S. An Epidemiologic Study of Tracheoesophageal Fistula and Esophageal Atresia in North Carolina. Teratology 25:53, 1982.

Aylsworth, A.S., Thomas, G.H., Hood, J.L., Malouf, N., and Libert, J.: A Severe Infantile Sialidosis: Clinical, Biochemical, and Microscopic Features. Journal of Pediatrics 96:662-668, 1980.

Wilson, W.G., Herrington, R.T., and Aylsworth, A.S.: The Langer-Giedion Syndrome: Report of a 22 year old Female. Pediatrics 64(4):542, 1979.

Wilson, W.G., and Aylsworth, A.S.: Familial Spontaneous Pneumothorax. Pediatrics 64(2):172, 1979.

Arbisser, A.I., Donnelly, K.A., Scott, C.I., DiFerrante, N., Singh, J., Stevenson, R.E., Aylsworth, A.S., and Howell, R.R.: Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB. American Journal of Medical Genetics 1:195-205, 1977.

Aylsworth, A.S., Taylor, H.A., Stuart, C.M., and Thomas, G.H.: Mannosidosis: Phenotype of a Severely Affected Child and Characterization of alpha-Mannosidase Activity in Cultured Fibroblasts from the Patient and His Parents. Journal of Pediatrics 88:814, 1976.

Taylor, H.A., Thomas, G.H., Aylsworth, A.S., Stevenson, R.E., and Reynolds, L.A.: Mannosidosis: Deficiency of a Specific alpha-Mannosidase Component in Cultured Fibroblasts. Clinica Chimica Acta 59:93-99, 1975.

Aylsworth, A. S., and Monif, G.R.G.: Delayed Serologic Evidence of Infection with Rubella Virus After the Administration of Gammaglobulin. Obstetrics and Gynecology 38:752-754, 1971.

Julius, R., Buehler, B., Aylsworth, Arthur S., St. Petery, L., Rennert, O., and Greer, M.: Diagnostic Techniques in Metachromatic Leukodystrophy. Neurology 21:15-18, 1971.

Publications from Collaborative Groups

The NTD Collaborative Group: As of April 2011, there are 15 published articles in PubMed by this group.

National Birth Defects Prevention Study: as of April 2011, there are 116 published articles listed in PubMed using NBDPS data.

Publications in Non-Refereed Journals, Letters to Journals, and Invited Editorials/Commentaries


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Adams SD, Evans JP, Aylsworth AS: Direct-to-Consumer Genomic Testing Offers Little Clinical Utility but Appears to Cause Minimal Harm. Invited commentary, North Carolina Medical Journal, 2013;74(6):494-499 (Nov/Dec issue). PMID:24316774

Aylsworth A, Graham JM Jr, Hall JG, Hoyme HE, Jones KL, Stevenson RE: Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports. Am J Med Genet. 2003 May 15;119A(1):93.

Bellus, Gary A, Kelly, Thaddeus E; Aylsworth, Arthur S: Hypochondroplasia. In: GeneReviews: Genetic Disease Online Reviews at GeneTests [online database]. Copyright, University of Washington, Seattle. Available at http://www.genetests.org. (May, 1999; updated Feb., 2003)

Aylsworth, A.S.: Optic gliomas in neurofibromatosis. Neurofibromatosis Research Newsletter 5:14-20, 1990.

Stevenson, R.E., Kelly, J.C., Aylsworth, A.S.: Vascular basis for neural tube defects: an hypothesis. Proceedings of the Greenwood Genetics Center 5:26-28, 1986.

Johnson, A.M., Buchanan, P.D., Aylsworth, A.S., Herrington, R.T., Bishop, E.H., Christakos, A.C., Wiebe, R.H., Welt, S.I., and Goodman, H.O.: Amniotic fluid alpha-fetoprotein levels in antenatal diagnosis of neural tube defects. North Carolina State Medical Journal 39:98, 1978.

Julius, R., Aylsworth, A. S., and Rennert, O.: Hunter-Hurler Syndrome. A prototype for the study of storage disease, Journal of the Florida Medical Association 57:23-25, 1970.

http://www.genetests.org/


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Submitted abstracts

Alman B, Stingone J, Anderka M, Aylsworth AS, Botto L, Correa A, Gilboa SM, Herring AH,

Langlois PH, Mosley B, Shaw GM, Siffel C, Olshan AF, Luben TJ and the National Birth Defects

Prevention Study: Associations between PM2.5 and Preterm births among controls in the

National Birth defects Prevention Study (1999 to 2006). Submitted for the Society for

Epidemiologic Research 48th Annual Meeting, June 16-19, 2015, Denver, CO

Crooks C, Aylsworth AS, Kaiser-Rogers K: Familial craniofacial microsomia associated with a

microdeletion involving FGF3 and FGF4. Submitted for the Annual Clinical Genetics Meeting

sponsored by the American College of Medical Genetics and Genomics (ACMG), March 2015,

Salt Lake City, UT.

Couser NL, Pande CK, Walsh JM, Aylsworth AS: Is camptodactyly associated with

velocardiofacial syndrome (VCFS)? Submitted for the Annual Clinical Genetics Meeting sponsored by the American College of Medical Genetics and Genomics (ACMG), March 2015, Salt Lake City, UT.

Watkins S, Meyer R, Aylsworth AS, Strauss R: Global Academic Failure in Third Grade

Among Children with an Isolated Nonsyndromic Orofacial Cleft Identified by A Population

Based Study in North Carolina. Accepted for platform presentation at the 72nd annual meeting

of the American Cleft Palate – Craniofacial Association, April 20-25, 2015, Palm Springs, CA.

Watkins S, Meyer R, Aylsworth AS, Ramsey B, Marcus JR, Allori A, Pimenta L, Strauss R:

“My Kid is an Honor Student”: Parents’ Perceptions of Academic Ability in Their Children with

Isolated Nonsyndromic Clefts. Accepted for platform presentation at the 72nd annual meeting of

the American Cleft Palate – Craniofacial Association, April 20-25, 2015, Palm Springs, CA.

Pimenta L, Watkins S, Meyer R, Aylsworth A, Ramsey B, Marcus J, Allori A, Strauss R: Quality

of Care by Craniofacial Team – Parents’ Perception. Accepted for poster presentation at the 72nd

annual meeting of the American Cleft Palate – Craniofacial Association, April 20-25, 2015, Palm

Springs, CA.

Published Abstracts

Stingone JA, Luben TJ, Daniels JL, Fuentes M, Richardson DB, Herring AH, Aylsworth AS, Anderka M, Botto L, Gilboa SM, Langlois PH, Lupo PJ, Mosley BS, Shaw GM, Siffel C, Olshan AF and the National Birth Defects Prevention Study: Maternal exposure to criteria air pollutants during early pregnancy and congenital heart defects in offspring. American Journal of Epidemiology, 117(11): S119, June 15, 2013.

O’Neill S, Moylan VJ Jr., Bouldin TW, Menard MK, Aase JM, Shaffer LG, Kaiser-Rogers, K, Aylsworth AS: Aase-Smith-like arthrogryposis syndrome associated with two microdeletions of unknown significance involving 3p12.2 and 1q21.1. Proc Greenwood Genet Cntr, 2009.

Shaikh TH, Saitta S, Kostiner D, MacDonald M, Ellison JW, Aylsworth AS, Shaffer LG: The 1q41q42 Microdeletion Syndrome: Characterization of a New Genomic Disorder. Am J Hum Genet (suppl) Oct. 2007.

Gallione C, Clericuzio C, Leedom T, Fahl J, Drautz J, Waldman J, Henderson K, Beis J, Ludman M, Berk T, Maisenbacher M, Fan Z, Aylsworth A, Garvie J, Faughnan M, White R, Marchuk D: .


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Refining the Molecular and Clinical Definitions for JP-HHT Syndrome. Am J Hum Genet (suppl) Oct. 2007

Kostiner D, Shaffer LG, Shaikh T, Saitta S, McDonald M, Aylsworth AS: Phenotypic Spectrum of the New 1q41q42 Microdeletion Syndrome. Proc Greenwood Genet Center 2007.

Stamm DS, Powell C, Kahler SG, Aylsworth A, Deak KL, West SG, Craig DW, Lince DG , Stephan DA, Gilbert JR, Speer MC: Genome-wide SNP chip homozygosity mapping defines critical region for Native American Myopathy. Am J Hum Genet Oct(suppl) 2005

Aylsworth AS: Itchy Mothers and Congenital Spinal Muscular Atrophy: An Observation and Speculation. Proc Greenwood Genet Center, 2004.

Scanga L, Chaing S, Powell C, Aylsworth A, Harrell LJ, Henshaw NG, Civalier C, Thorne L, Sailus J, Weck K, Booker J, Gulley M: Diagnosis of Congenital CMV Infection by PCR of Dried Blood Spots on Perinatal Cards. Journal of Molecular Diagnostics, 6(4): 423, 2004.

Kearney HM, Kaiser-Rogers K, Aylsworth AS, Rao, KW: Microduplication of Chromosome 17 Involving The Miller-Dieker Region; dup(17)(p13.2p13.3). American Cytogenetics Conference, 2004.

Lux FG, Aylsworth AS, Blanton SH, Kelly TE, Bellus GA, and The Genentech Hypochondroplasia Study Group: Identification of a Putative New Hypochondroplasia Mutation in the Intracellular Juxtamembrane Domain of FGFR3. Am J Human Genet 71(4):547(A2216), 2002.

Quigley DI, Kaiser-Rogers K, Aylsworth AS, Rao KW: Submicroscopic deletion 9(q34.4) and duplication 19(p13.3) identified by subtelomere specific FISH probes. Am J Human Genet 71(4):308(A798), 2002.

Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, Ferreira de Lima RLL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC: Mutations in Interferon Regulatory Factor 6 Cause Van Der Woude and Popliteal Pterygium Syndromes. Proc Greenwood Genet Center, 2002.

Aylsworth AS, Mornet E, Cardenas L, Taillandier A, Roche MI, Wright JT: Benign Prenatal Hypophosphatasia: Further Evidence For a Dominant-Negative Mechanism and Possible Maternal Effects. Proc Greenwood Genet Center, 2001.

Aylsworth AS, Bellus GA, Blanton SH, Kelly TE, and The Genentech Hypochondroplasia Study Group: Genotype-phenotype correlations in hypochondroplasia: progress report from an international collaborative project. Am J Human Genet October, 2001 abstract.

Aylsworth AS, Mao R, Wilson WG, Kaiser-Rogers K, Tennison MB, Silverman LM, Snow K, Potter NT: Severe early infantile onset of developmental retardation, cerebellar hypoplasia, and seizures in an infant with a maternally inherited extreme CAG-repeat expansion in the Spinocerebellar Ataxia Type 2 (SCA2) gene. Am J Human Genet 67(4):57 (A242), 2000.

Lamb AN, Lytle CH, Aylsworth AS, Powell CM, Rao KW, Hendrickson M, Carey JC, Opitz JM, Viskochil DH, Leonard CO, Brothman AR, Stephan M, Bartley JA, Hackbarth M, McCarthy D, Proffitt J: Low proportion of subtelomeric rearrangements in a population of patients with mental retardation and dysmorphic features. Am J Human Genet, 65(4), A169, 1999.

Ashley-Koch A, Wolpert C, Zaeem L, Menold M, Basu S, Bass M, Donnelly S, Hauser E, Church T, Ravan S, Powell C, Qumsiyeh M, Aylsworth AS, Vance JM, Wright H, Abramson R, Gilbert J, DeLong GR, Cuccaro M, Pericak-Vance MA: Autistic Disorder and Chromosome 7: evidence for a paternal effect. Am J Human Genet, 65(4), A60, 1999.


15

Aylsworth AS, Kelly TE, Blanton SH, Spector E, Fordham LA, Stevenson RE, Sollenberger J, Francomano CA, Bellus GA: Genetic heterogeneity and therapy potential in hypochondroplasia (HCH): preliminary observations and proposal for an international collaborative study. Poster presentation at the American Society of Human Genetics annual meeting, San Francisco, October, 1999. Am J Human Genet, 65(4), A141, 1999.

Gaskell PC, Scott WK, Lennon-Graham F, Wolpert CM, Menold MM, Aylsworth AS, Warner C, Farrell CD, Albright SG, Vance JM, Marchuk DA, Pericak-Vance MA: Clinical and genetic studies in uncomplicated autosomal dominant familial spastic paraplegia. Am J Human Genet, 63(4), A104, 1998. Poster presentation at the American Society of Human Genetics 48th annual meeting, Oct. 1998, Denver

Smith AJK, Chen XN, McGillivray B, Wu J, Immken L, Calabrese G, Palka G, Greenberg F, Ippel E, Aylsworth A, Booth C, Moeschler J, Korenberg JR: Toward a molecular understanding of brain malformation and function in monosomy 21.. Am J Human Genet, 63(4), A32, 1998.

Pericak-Vance MA, Wolpert CM, Menold MM, Bass MP, Hauser ER, Donnelly SL, Ravan SA, Powell CM, Qumsiyeh M, Aylsworth AS, Vance JM, DeLong GR, Wright HH, Abramson RK, Gilbert JG, Cuccaro ML: Chromosome 7 and autistic disorder (AD). Am J Human Genet, 63(4), A16, 1998. Platform presentation at the American Society of Human Genetics 48th annual meeting, Oct. 1998, Denver.

Aylsworth AS, Bellus GA, Fordham LA, Stevenson RE, Kelly TE: A study of radiographic measurements of the dysmorphic pelvis to delineate the hypochondroplasia/mild short-limbed dwarfism spectrum. Platform presentation, David W. Smith Workshop on Malformations and Morphogenesis, August 8, 1998, Whistler, BC, Canada. Proc Greenwood Genet Center 18: 106, 1999.

Melvin EC, Viles KD, Mackey JF, Luccas A, Franklin A, Albright S, Aylsworth A, Worley G, Brei T, Buran C, Vance JM, Pericak-Vance MA, George TM, Speer MC, and the NTD Collaborative Group: Investigations of candidate genes for neural tube defects implicated from mouse models. Am J Hum Genet 61(4):A286, 1997.

Reitnauer PJ, Aylsworth AS, Hughes-Benzie RM: Simpson-Golabi-Behmel syndrome and congenital cutaneous mastocytosis: Implications for the role of the Xq26 region in growth regulation. David W. Smith Workshop on Malformations and Morphogenesis, Litchfield Beach, SC, August, 1997. Proc Greenwood Genetic Center

Dickerson C, Du Y-Z, Aylsworth A, Schwartz C: A silent mutation creates a novel splice site in the L1CAM gene and is responsible for X-linked hydrocephalus (HSAS). Nat’l Soc. of Genetic Counselors annual meeting, Oct., 1997.

Aylsworth AS, Faber GH, Horton WA: Clinical, radiographic, and pathologic features of the Mohr-Majewski phenotype. Platform presentation at the David Smith Workshop on Malformations and Morphogenesis, Lake Arrowhead, California, Sept-Oct, 1996

Mundlos S, Mundlos C, Knoll JHM, Albright S, Aylsworth A, Henn W, Curry C, Olsen BR: Microdeletions in cleidocranial dysplasia. Poster presentation at the annual meeting of the American Society of Human Genetics, Oct. 1996. Am J Hum Genet 59(4): A274, 1996

Lennon F, Gaskell PC, Scott WK, Menold MM, Aylsworth AS, Warner C, Farrell CD, Boustany RM, Boyd E, Albright SG, Kingston HM, Cummings WJK, Vance JM, Pericak-Vance MA: Genetic studies in familial spastic paraparesis: heterogeneity results and evidence for anticipation in chromosome 2 SPG. Poster presentation at the annual meeting of the American Society of Human Genetics, Oct. 1996. Am J Hum Genet 59(4): A225, 1996


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Speer MC, Worley G, Wolpert CM, Viles K, Beaty M, Mackey JF, Aylsworth AS, Albright SG, Lucas A, Fuchs HE, George T, Pericak-Vance MA: Investigation of candidate genes in lumbosacral myelomeningocele. Am J Hum Genet 59(4): A389, 1996

Endrigkeit US, Doron MW, Aylsworth AS, Rao KW, Powell CM: Tetrasomy 9p: case report and delineation of the syndrome. Poster presentation at the annual meeting of the American Society of Human Genetics, Oct. 1996. Am J Hum Genet 59(4): A117, 1996

Reitnauer PJ, Black HR, Leigh MW, Aylsworth AS: A three generation family with features of lacrimo-auriculo-dento-digital syndrome (LADD) and severe chronic lung disease. Pediatr Res, 1996

Mundlos S, Knoll JHM, Mundlos C, Huang LF, Selby P, Aylsworth A, Albright S, Henn W, Mulliken JB, Olsen BR: Cleidocranial dysplasia in mice and men. Am J Hum Genet, 57(4): A265, Oct, 1995

Lennon F, Gaskell PC, Wolpert C, Aylsworth AS, Malin D, Warner C, Farrell CD, Boustany RN, Albright SG, Kingston HM, Cummings WJK, Hogan EL, Vance JM, Pericak-Vance MA: Linkage and heterogeneity in hereditary spastic paraparesis. Am J Hum Genet, 57(4): A217, Oct, 1995.

Heim RA, Kam-Morgan LNW, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC: Neurofibromatosis 1 (NF1) truncating mutations are dispersed throughout the NF1 gene. Am J Hum Genet, 57(4): A214, Oct, 1995.

Reitnauer PJ, Albright SG, Aylsworth AS, Powell CM, Kaiser-Rogers KA, Rao KW: Subtle familial translocation 11;22 associated with macrocephaly in balanced carriers. Am J Hum Genet, 57(4): A124, Oct, 1995.

Casey B, Gebbia M, Devoto M, Nelson D, Aylsworth AS: Females with midline malformations and complete reversal of left-right asymmetry in a family with apparent X-linked heterotaxy. Am J Hum Genet, 57(4): A85, Oct, 1995.

Bernard LE, Kalousek DK, Langlois S, Barrett IJ, Hansen WF, Aylsworth AS, Smith DI, Rao KW: Confined placental mosaicism for trisomy 2 with fetal maternal uniparental disomy of chromosome 2. Am J Hum Genet, 57(4): A51, Oct, 1995.

Bellus GA, Szabo JK, McIntosh I, Kaitila I, Aylsworth AS, Hecht JT, Francomano CA: Hypochondroplasia: a second recurrent mutation of fibroblast growth factor receptor 3 (FGFR3) at nucleotide 1620. Am J Hum Genet, 57(4): A47, Oct, 1995

May M, Colleaux L, Aylsworth A, Fontes M, Schwartz C: Analysis of a patient with choroideremia (CHM) and mental retardation (MR) and a deletion of Xq21 localizes a MR gene between DXS233 and CHM. 7th International Workshop on the Fragile X and X-linked Mental Retardation, August, 1995, Tromso, Norway.

Casey B, Gebbia M, Devoto M, Nelson DL, Aylsworth AS: Complete reversal of left-right asymmetry as a manifestation of X-linked heterotaxy. David W. Smith Workshop on Malformations and Morphogenesis, Jul-Aug, 1995, Big Sky, Montana. Proc. Greenwood Genetics Center

Aylsworth AS, Bellus GA, McIntosh I, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, and Francomano Clair A: Further clinical (phenotypic) heterogeneity associated with mutations in the fibroblast growth factor receptor 3 (FGFR3) locus: a recurrent mutation causes hypochondroplasia. Platform presentation, David W. Smith Workshop on Malformations and Morphogenesis, Jul-Aug, 1995, Big Sky, Montana. Proc. Greenwood Genetics Center

Reitnauer PJ, Farber RA, Aylsworth AS: Monozygotic twins discordant for birth defects associated with disulfiram and ethanol in the first trimester. David W. Smith Workshop on


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Malformations and Morphogenesis, Jul-Aug, 1995, Big Sky, Montana. Proc. Greenwood Genetics Center

Kaiser-Rogers KA, Albright SG, Aylsworth AS, Tepperberg JH, Gowan LC, Rao KW: A derivative chromosome composed of 18p and 21q associated with different phenotypes in a mother and son. 2nd Joint Clinical Genetics Meeting (26th Annual March of Dimes Clinical Genetics Conference and 2nd Annual Meeting of the American Colege of Medical Genetics), March, 1995, Los Angeles

Wang Y, Treat K, Schroer RJ, LePaslier D, O’Brien JE, Callen DF, Aylsworth AS, Stevenson RE, Schwartz CE: Isolation of a 2 Mb YAc contig encompassing the branchio-oto-renal (BOR) syndrome locus in 8q13.Am J Hum Genet, 55(3):A273, 1994.

Gilbert J, Wolpert C, Kumar A, Kandt R, Oiu H, Pufky J, Lennon F, Aylsworth A, Nellist M, Sampson J, Roses A, Pericak-Vance MA: Mutation analysis of tuberous sclerosis families using the chromosome 16 (TSC2) tuberin gene. Am J Hum Genet, 55(3):A370, 1994.

Heim RA, Marchuk DA, Silverman LM, Aylsworth AS, Farber R: Analysis of a new mutation in the neurofibromatosis (NF1) gene leads to characterization of an exon in an NF1-related gene on chromosome 15. Am J Hum Genet, 55(3):A223, 1994.

Reitnauer PJ, Rao KW, Tepperberg JH, Aylsworth AS, Powell CM: Malformation/dysplasia syndrome (neural tube defect, hypospadias, neuroblastoma) associated with an extra dicentric marker chromosome 15 (“inversion duplication 15”). Am J Hum Genet, 55(3):A321, 1994.

Hicks RPB, Timmons MC, Aylsworth AS: Holoprosencephaly with caudal dysplasia: pseudo-trisomy 13 or a distinct entity? Am J Hum Genet, 55(3):A83, 1994.

Aylsworth AS, Hicks RPB, Drake AF: New observations in Holoprosencephaly: 1) Support for the hypothesis that congenital nasal pyriform aperture stenosis (CNPAS) is a phenotype at the mild end of the holoprosencephaly spectrum; and 2) Association with caudal dysplasia may be pseudotrisomy 13 or a distinct entity. Presented at the David W. Smith Workshop on Malformations and Morphogenesis, Tampa, August, 1994.

Lieff S, Hunt RJ, and Aylsworth A: Maternal cigarette smoking and oral-facial clefts: A case-control study. International Association for Dental Research, March 1994.

Lieff S, Hunt R, Aylsworth A: Identification of risk factors associated with oral clefts - are birth defects registries useful? American Cleft Palate/Craniofacial Association Meeting, May 1994.

Gerwehr S, Chen X-N, Schipper R, Gonsky R, Sun Z-G, Aylsworth AS, Calabrese G, Estabrooks L, Falik-Borenstein T, Immken L, Mennuti M, Muenke M, Palka G, Punnett H, Roland B, Soukup S, Korenberg J: Toward a molecular understanding of the monosomy 21 phenotypes. Am J Hum Genet, 53(#3, suppl):A438, Sep. 1993.

Callanan NP, Sorenson JR, Cheuvront B, Talton SL, DeVellis BM, and Aylsworth AS: Testing of partners and genetic counseling for CF carriers identified in a kinship based screening program. Am J Hum Genet, 53(#3, suppl):A749, Sep. 1993.

Tepperberg JH, Tennison MB, Kaiser-Rogers K, Albright SG, Aylsworth AS, and Rao KW: An inherited cryptic translocation between chromosomes 13 and 15, detected by FISH, in a child with Angelman syndrome. Am J Hum Genet, 53(#3, suppl):A609, Sep. 1993.

Estabrooks LL, Rao KW, Driscoll DA, Ikonen E, Korf B, Crandall BF, Aylsworth AS: A preliminary phenotypic map of chromosome 4p16. Am J Hum Genet, 53(#3, suppl):A1288, Sep. 1993.


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Heim R.A, Aylsworth AS, Silverman LM: Molecular analysis of a candidate gene for X-linked hydrocephalus. Bulletin of Laboratory Medicine, The North Carolina Memorial Hospital and the School of Medicine, UNC, Issue 130, April 1993.

Kaiser-Rogers KA, Roche MI, Davenport ML, Aylsworth AS, and Rao KW: Multiple cell lines observed at CVS and amniocentesis in a normal female infant with 46,XX/47,XX,+der(Y) mosaicism. Am J Hum Genet, 51(#4, suppl):A82, Oct 1992.

Kepten I, Rao KW, Kupfer S, and Aylsworth AS: Hypogonadotropic hypogonadism in a dysmorphic patient with a minute proximal 8p deletion. American Society of Human Genetics, 1992. Am J Hum Genet, 51(#4, suppl):A83, Oct 1992.

Aylsworth AS: Microtia and unusual eyebrows (with variable developmental delay, ptosis, congenital heart disease, postaxial polydactyly and dermatoglyphic abnormalities) in a girl, her mother and sister. . Proc. Greenwood Genet. Center, (abstract1993)

Aylsworth AS, Gold SH: Immunopancytopenia (“Evans syndrome”) and dysmorphic features in two unrelated girls. Proc. Greenwood Genet. Center, (abstract, 1993)

Aylsworth AS, Sulik KK, Alles AJ: Toward a teratogenic mouse model for Townes syndrome. Proc. Greenwood Genet. Center, 11:82-83, 1992.

Boyd TK, Flannagan LM, Aylsworth AS: Phenotypic overlap between the OEIS complex and the Jarcho-Levin syndrome. Proc. Greenwood Genet. Center, 11,156-157, 1992.

Estabrooks LL, Lamb AN, Aylsworth AS, Callanan NP, Farber RA, Vo T, Carlock L, Bengtsson U, Wasmuth JJ, Altherr MR, Rao KW: Characterization of chromosome 4p deletions and rearrangements. Proceedings of the 8th International Congress of Human Genetics, Washington, DC, Oct., 1991. Am. J. Hum. Genet. 49(Suppl):A297, 1991

Estabrooks, L.L., Rao, K.W., Siegel C.M. and Aylsworth, A.S.: Prenatal diagnosis in a case of familial sex chromosome mosaicism. Am. J. Hum. Genet. 47:A273, 1990.

Lamb, A.N., Roche, M., Kirkman, H.N., Rao K.W. and Aylsworth, A.S.: A patient with a minute terminal deletion of chromosome 2 long arm. Am. J. Hum. Genet. 47:A32, 1990.

Aylsworth, A.S. and Lin, A.E.: Male to male transmission in a second family supports autosomal dominant inheritance in Nager acrofacial dysostosis. Am. Soc. Human Genetics annual meeting, Cincinnatti, OH, Oct., 1990. Am. J. Hum. Genet. 47:A47, 1990.

Aylsworth, A.S., Miller, C.G. and Mesrobian, H.J.: Familial recurrence of the prune belly phenotype. David W. Smith Workshop on Malformations and Morphogenesis, Lexington, KY, August, 1990. Proc. Greenwood Genet. Center. 10:52-53,1991.

Aylsworth, A.S., Horton, W.A., Ellison, D.A., Lamb, A.N. and Rao, K.W.: Dysmorphogenesis in Three Constitutional Diseases of Bone: Achondrogenesis, Camptomelic Dysplasia and Spondylocostal Dysostosis. Proc. Greenwood Genetics Center, 9:105-106, 1990 (Abstract)

Lin, A., Allanson, J., Aylsworth, A., Carey, J., Flannery, D., Kaplan, P., Korf, B., Riccardi, V.M., Saal, H., Stern, H.: Is there a distinctive facies in neurofibromatosis, type 1? Neurofibromatosis Res Newsl 5:13, 1989.

Pruchno, C.J., Willing, M.C., Starman, B.J., Aylsworth, A., Byers, P.H.: Inefficient splicing and production of both a normal and shortened mRNA from the same COL1A1 allele of type I collagen in a father and son with osteogenesis imperfecta (OI). Am. J. Human Genet. 45(#4,Suppl):A213, 1989.

Rao, K.W., Callanan, N.P., Wilson, S., Talley, W.G., and Aylsworth, A.S.: Hits after misses: The value of rekaryotyping. Am. J. Human Genet. 45(#4,Suppl):A88, 1989.


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Murayama, K., Greenwood, R.S., Aylsworth, A.S., and Rao, K.W.: The 1q- Syndrome: Neurological, Behavioral, and Linguistic Uniqueness. Annals of Neurology, 26(3):482, 1989.

Aylsworth, A.S. and Laco, J.M.: The Association of Central Nervous System Malformations with Defects in Determination of Laterality. Proc. Greenwood Genet. Center 8:154-155, 1989.

Friedman, P.A., Rao, K.W., Teplin, S.W. and Aylsworth, A.S.: Provisional Deletion Mapping of the Focal Dermal Hypoplasia (FDH) Gene to Xp22.31. Am. J. Human Genet., 43(#3,Suppl.):A50, 1988.

Silverman, L.M., Bankson, D.D., Hofman, L.F., Pericak-Vance, M.A., Gaskell, P.C. and Aylsworth, A.S.: Newborn Screening for Duchenne Muscular Dystrophy (DMD) Using an Immunologic CK MB Assay. Am. J. Human Genet., 43(#3,Suppl.):A15, 1988.

Rosenwasser, G.O.D., Pericak-Vance, M., Yamaoka, L.H., Aylsworth, A., Vance, J.M., Gaskell, P.C., Hung, W., Dawson, D.V., Roses, A.D.: Lisch Nodules and Linkage Analysis of Chromosome 17 Probes in the Largest Reported Kindred with Neurofibromatosis 1. Abstract for the UCLA Symposium on Molecular Biology of the Eye: Genes, Vision and Ocular Disease, Santa Fe, N.M., Feb., 1988.

Seizinger, B.R., Rouleau, G.A., Ozelius, L.J., Lane, A.H., Faryniarz, A.G., Chao, M.V., Huson, S., Korf, B.R., Parry, D.M., Pericak-Vance, M.A., Collins, F.S., Hobbs, W.J., Falcone, B.G., Falcone, J.A., Iannazzi, J.A., Roy, J.C., StGeorge-Hyslop, P.S., Tanzi, R.E., Bothwell, M.A., Bothwell, M., Upadhyaya, M., Harper, P., Goldstein, A.E., Hoover, D.L., Bader, J.L., Spence, M.A., Mulvihill, J.J., Aylsworth, A.S., Vance, J.M., Rossenwasser, G.O.D., Gaskell, P.C., Roses, A.D., Martuza, R.L., Breakefield, X.O., and Gusella, J.F.: Genetic Linkage of von Recklinghausen Neurofibromatosis to the Nerve Growth Factor Receptor Gene. Am. J. Human Genet 41(#3,Suppl.):A238, 1987.

Friedman, P.A., Rao, K.W. and Aylsworth, A.S.: Six patients with the Townes-Brocks Syndrome including five familial cases and an association with a pericentric inversion of chromosome 16. Presented at the annual meeting of the American Society of Human Genetics, San Diego, October, 1987. Am. J. Hum. Genet. 41(#3,Suppl.):A60, 1987.

Aylsworth, A.S., Friedman, P.A., Powers, S.K. and Kahler, S.G.: New observations with genetic implications in two syndromes: (1) Father to son transmission of the Nager acrofacial dysostosis syndrome; and (2) Parental consanguinity in the Proteus syndrome. Am. J. Hum. Genet. 41(#3,Suppl.):A43, 1987.

Estabrooks, L.L., Rao, K.W., Seeds, J.W., Donahue, R.P. and Aylsworth, A.S.: Non-syndromic holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3). Am. J. Human Genet 41(#3,Suppl.):A118, 1987.

Aylsworth, A.S., Powers, S.K. and Kahler, S.G.: The Proteus Syndrome with Parental Consanguinity. Proc. Greenwood Genet. Center 7:216, 1988.

Aylsworth, A.S. and Friedman, P.A.: Father to Son Transmission of the Nager Syndrome. Proc. Greenwood Genet. Center 7:204, 1988.

Aylsworth, A.S., Stein, L.D. and Warren, R.W.: Epiphyseal Dysplasia, Microcephaly and Immune Deficiency. Proc. Greenwood Genet. Center 7:198, 1988.

Aylsworth, A.S. and Friedman, P.F.: Father to Son Transmission of Nager Acrofacial Dysostosis. Am. J. Med. Genet Supplement 4: 175, 1988.

Pericak-Vance, M., Alberts, M., Vance, J., Aylsworth, A., Rossenwasser, G., Yamaoka, L., Gaskell, P., Chen, J., Fey, G., Roses, A.: Genetic Linkage in Neurofibromatosis. Am. J. Hum. Genet. 39(3):A165, 1986.


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Rao, K.W., Lachiewicz, A.M., Sugioka, M., and Aylsworth, A.S.: Evolving Syndrome Associated with Deletion 17p11.2. Am. J. Hum. Genet., 39(3):A129, 1986.

Aylsworth, A.S., Pericak-Vance, M.A., Rosenwasser, G., Vance, J.M., Gaskell, P.C., Stajich, J.M., and Roses, A.D.: Clinical Expression of Neurofibromatosis (NF) in a Large Kindred. Am. J. Hum. Genet. 39(3):A146, 1986.

Stevenson, R.E., Kelly,J.C., Aylsworth, A.S., and Phelan, M.C.: Vascular Basis for Neural Tube Defects. Proc. Greenwood Genet. Center 6:109,1987.

Lachiewicz, A.M., Gullion, C.M., Spiridigliozzi, G.A., and Aylsworth, A.S.: Decline in IQ Scores of Young Fragile X Males. J. Developmental and Behavioral Pediatrics (abstract). 1986.

Aylsworth, A.S.: The Townes-Brocks Syndrome: A Member of the Anus-Hand-Ear Family of Syndromes. Am. J. Human Genetics 37:A43, 1985.

Lachiewicz, A.M. and Aylsworth, A.S.: Mild Impairment of Development and Behavior in Boys with Fragile X. Am. J. Human Genetics 37:A64, 1985.

Aylsworth, A.S., Horton, W.A., and Seeds, J.W.: New Observations in Two Types of Lethal Dwarfism: Achondrogenesis with Cleft Palate and Thanatophoric Dysplasia with Cloverleaf Skull. Proc. Greenwood Genetics Center 5:153, 1986.

Aylsworth, A.S., Kredich, N.M., Jackson, L.G., and Rao, K.W.: Spontaneous Reversion of a Human Hypoxanthine Phosphoribosyltransferase (HPRT) Deficient Mutant. Am. J. Human Genetics 36:201s, 1984.

Aylsworth, A.S., Jackson, L.G., and Kredich, N.M.: Spontaneous Reversion at the HPRT Locus in Cells from a Patient with a Mild Variant of the Lesch-Nyhan Syndrome. Pediatric Research 18(4 pt. 2):219A, 1984.

Kahler, S.G. and Aylsworth, A.S.: Midline Porencephaly. Proc. Greenwood Genet. Cntr. 2:118-119, 1983.

Patrone NA, Kredich DW, Aylsworth AS: Multiple Epiphyseal Dysplasia and Arthritis. Clinical Research, 31, (2): A654-A654, 1983.

Aylsworth, A.S., Seeds, J., and Guilford, B.: Prenatal diagnosis of a severe deforming type of osteogenesis imperfecta. 1982 Birth Defects Conference, Birmingham (Abstract).

Carroll, C.L., Greene, W.B., and Aylsworth, A.S.: Variable expression in four generations of a family with distal arthrogryposis, ptosis, pterygium colli, pectus deformities, and pigmented nevi. Am. J. Human Genet. 33(6):73A, 1981.

Ozimek, C.D., Grimson, R.C., and Aylsworth, A.S.: Tracheoesophageal fistula and esophageal atresia in North Carolina: A study of clustering and possible association with infectious disease. Pediatr. Res. 15(4, pt. 2):645, 1981.

Horton, W.A. and Aylsworth, A.S.: Acromesomelic dysplasia, a histochemical study of the endochondral growth plate. Pediatr. Res. 15(4, pt. 2):643, 1981.

Rao, K.W., Buchanan, P.D., Kahler, S.G., Aylsworth, A.S., and Doerr, C.L.: Chromosome Instability in a Patient with Severe Growth Failure. Am. J. Human Genetics 31(6):107A, 1979.

Aylsworth, A.S., Thomas, G.H., and Hood, J.L.: The Severe Infantile Form of Neuraminidase Deficiency. Am. J. Human Genetics 31(6):68A, 1979.

Burns, J., Kahler, S.G., and Aylsworth, A.S.: Osteopetrosis: The Mild Autosomal Recessive Form. Am. J. Human Genetics 30:48A, 1978.


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Wilson, W.G. and Aylsworth, A.S.: Legal and Ethical Problems in Genetic Counseling: Informed Consent for the Acquisition of Medical Records and the Delivery of Genetic Counseling to Extended Families. 1978 Birth Defects Conference (Abstract).

Kahler, S.G. and Aylsworth, A.S.: Hypophosphatemic Rickets-A Rare Autosomal Dominant. 1978 Birth Defects Conference (Abstract).

Wilson, W.G., Buchanan, P.D., Rao, K.W., and Aylsworth, A.S.: A Child with Unusual Congenital Anomalies and 46, XY, 16p+. 1977 Birth Defects Conference (Abstract).

Buchanan, P.D., Aylsworth, A.S., Doerr, C.L., and Rao, K.W.: Complex Chromosome Abnormalities in a Nine Year Old Boy with Severe Intrauterine Growth Retardation. 1977 Birth Defects Conference (Abstract).

Wilson, W.G. and Aylsworth, A.S.: Familial Idiopathic Spontaneous Pneumothorax. 1978 Birth Defects Conference (Abstract).

Aylsworth, A.S., Swisher, C.N., and Kirkman, H.N.: Lethal Hyperammonemia Due to Partial Ornithine Transcarbamylase (OCT) Deficiency in a Six Year Old Male. Am. J. Human Genetics 27:15A (November) 1975.

Arbisser, A.I., Donnelly, K.A., Scott, C.I., DiFerrante, N.M., Stevenson, R.E., Aylsworth, A.S.: Urine Enzyme Diagnosis in Atypical Keratan Sulfate Excreting Mucopolysaccharidosis. Am. J. Human Genetics 27:14A, 1975. Presented to the American Society of Human Genetics, 27th Annual Meeting, Baltimore, Md., October, 1975.

Taylor, H., Thomas, G., Aylsworth, A.S., and Stevenson, R.: Deficiency of an Alpha-Mannosidase Component in Cultured Skin Fibroblasts of Patients with Mannosidosis. Am. J. Human Genetics 26:86A, 1974.

Presentations

Papers

Bronicki L, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L,

Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Gunel M, Jones J, Gleeson J, Willems

M, Mandel JL, Stevenson RE, Friez M, Aylsworth AS: Ten new cases further delineate the

syndromic intellectual disability phenotype caused by mutations in DYRK1A. Presented at the

38th Annual Scientific Conference of the Canadian College of Medical Geneticists, November 6,

2014, Vancouver, BC.

Shapira SK, Tian LH, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJ, Souders MC, Tsai

AC-H, Zackai EH, Alexander AA, Schieve LA: Development of a Novel Protocol for

Characterizing Dysmorphology Based on Minor Malformations to Enhance the Phenotypic

Classification of Autism Spectrum Disorder. Platform presentation at the 35th Annual David W.

Smith Workshop on Malformations and Morphogenesis, Madison, WI, July 2014

Watkins S, Meyer R, Strauss R, Marcus JR, Allori A, Pimenta L, Harmsen K, Lipinski RJ,

Aylsworth AS: School performance of children with orofacial clefts. Platform presentation (by

ASA) at the 35th Annual David W. Smith Workshop on Malformations and Morphogenesis,

Madison, WI, July 2014.

Stingone JA, Luben TJ, Carmichael SM, Herring AH, Aylsworth AS, Anderka M, Botto L, Correa A, Gilboa SM, Langlois PH, Mosley BS, Shaw GM, Siffel C, Olshan AF, National Birth Defects Prevention Study: Maternal exposure to nitrogen dioxide, dietary intake of methyl-nutrients and


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congenital heart defects in offspring. Presented at the annual meeting of the Society for Epidemiologic Research, Seattle WA, June 2014

Powell CM, Horstick EJ, Linsley JW, Dowling JJ, Aylsworth AS, Keelean-Fuller D, Hayden MA, Thorne L, Stamm DS, Hauser MA, Ashley-Koch A, McDonald-Gibson KK, Hirata H, Franzini-Armstrong C, Satish A, Saint-Amant L, Kuwada JY: Native American Myopathy is an Arthrogryposis Syndrome with Susceptibility to Malignant Hyperthermia Caused by Mutation in STAC3. Presented at the 2014 ACMG Clinical Genetics Meeting, Nashville, TN, March 2014.

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Splitt M, Aylsworth AS, Krapels IPC, Curry CJ, Aracena Alvarez MI, Hecht JT, Hurst J, Scott R, Graham J, Smith JD, Tabor HK, Shendure J, Nickerson DA, Bamshad MJ: Mutations in PIEZO2 cause Gordon syndrome, Marden Walker syndrome and distal arthrogryposis type 5. Presented at the annual meeting of the American Society of Human Genetics, October 2013.

Stingone JA, Luben TJ, Daniels JL, Fuentes M, Richardson DB, Herring AH, Aylsworth AS, Anderka M, Botto L, Gilboa SM, Langlois PH, Lupo PJ, Mosley BS, Shaw GM, Siffel C, Olshan AF and the National Birth Defects Prevention Study: Maternal exposure to criteria air pollutants during early pregnancy and congenital heart defects in offspring. Platform presentation at the Society for Epidemiologic Research Annual Meeting, June 20, 2013, Boston, MA

BD Solomon, KA Bear, A Wyllie, AA Keaton, C Dubourg, V David, S Mercier, S Odent, U Hehr, A Paulussen, NJ Clegg, MR Delgado, SJ Bale, F Lacbawan, H Ardinger, A Aylsworth, NL Bhengu, S Braddock, K Brookhyser, B Burton, H Gaspar, A Grix, D Horovitz, E Kanetzke, H Kayserili, D Lev, SM Nikkel, M Norton, R Roberts, HS Saal, GB Schaefer, A Schneider, EK Smith, E Sowry, MA Spence, S Shalev, CE Steiner, JZ Balog, DW Hadley, N Zhou, DE Pineda-Alvarez, S-K Hong, B Feldman, E Roessler, M Muenke: Genotypic and phenotypic analysis of 396 individuals with Sonic Hedgehog mutations and development of a clinically applicable biosensor assay to determine variant pathogenicity. Platform presentation at the 33rd annual David W. Smith Workshop on Malformations and Morphogenesis, August 2012.

Luben TJ, Siega-Riz AM, Herring A, Aylsworth AS, and the National Birth Defects Prevention Study: The Effect of Maternal Water Consumption during Pregnancy on Birth Defects. Platform presentation at the Society of Pediatric/Perinatal Epidemiologic Research, Minneapolis, June, 2012.

Aylsworth, AS, Haeri S, Moylan VJ, Rosenfeld J, Kaiser-Rogers KA: HNF1B and Prune Belly Phenotype. Presented at the 30th annual David W. Smith Workshop on Malformations and Morphogenesis, Aug 2009, Philadelphia PA.

Manickam K, Gücşavaş-Calikoġlu M, Moldenhauer J, Crowe C, Powell CM, Aylsworth AS. Chondrodysplasia punctata and maternal mixed connective tissue disease: prenatal, postnatal, and maternal findings. Presented at the American College of Medical Genetics annual meeting, March 2008, Phoenix, AZ.

Gallione C, Clericuzio C, Leedom T, Fahl J, Drautz J, Waldman J, Henderson K, Beis J, Ludman M, Berk T, Maisenbacher M, Fan Z, Aylsworth A, Garvie J, Faughnan M, White R, Marchuk D: . Refining the Molecular and Clinical Definitions for JP-HHT Syndrome. Presented at the American Society of Human Genetics annual meeting, Oct. 2007, San Diego, CA.

Shaikh TH, Saitta S, Kostiner D, MacDonald M, Ellison JW, Aylsworth AS, Shaffer LG: The 1q41q42 Microdeletion Syndrome: Characterization of a New Genomic Disorder. Presented at the American Society of Human Genetics meeting, Oct. 2007, San Diego, CA.

Kostiner D, Shaffer LG, Shaikh T, Saitta S, McDonald M, Aylsworth AS: Phenotypic Spectrum of the New 1q41q42 Microdeletion Syndrome. Presented at the 28th David W. Smith Workshop on Malformations and Morphogenesis. Williamsburg, VA, August, 2007.


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Shaffer LG, Bejjani BA, Torchia B, Aylsworth AS, Curtis M, Saitta S, Shaikh T, McDonald M, Parisi M, Tsai A, Atkin J, Bassuk A, Ballif BC: Identification and delineation of chromosomal deletions associated with the holoprosencephaly spectrum. Presented at the annual meeting of the American College of Medical Genetics, March 2007.

*Basinger AA, *Kranz C, [*contributed equally], Wright L, Gucsavas-Calikoglu M, Powell C, Henderson FW, Freeze HH, Aylsworth AS: Prenatal and Postnatal Phenotypes of Severe Cdg-Ig: A Congenital Disorder of Glycosylation Presenting with Skeletal Dysplasia and Immune Deficiency. Presented (by ASA) at the 27th David W. Smith Workshop on Malformations and Morphogenesis, Sept. 2006, Lake Arrowhead, CA.

Aylsworth AS: Itchy Mothers and Congenital Spinal Muscular Atrophy: An Observation & Speculation. Presented at the 25th David W. Smith Workshop on Malformations and Morphogenesis, Snowbird Utah, August 2004.

Kearney HM, Kaiser-Rogers K, Nandi KN, Murphy CW, Aylsworth AS, and Rao KW: Microduplication of chromosome 17 involving the Miller-Dieker region: dup(17)(p13.2p13.3). Platform presentation at the American Cytogenetics Conference - Stevenson, Washington - April, 2004.

Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, Ferreira de Lima RLL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC: Mutations in Interferon Regulatory Factor 6 Cause Van Der Woude and Popliteal Pterygium Syndromes. Platform presentation by ASA at the David W. Smith Workshop on Malformations and Morphogenesis, Furman Univ., August 2002.

Aylsworth AS, Mornet E, Cardenas L, Taillandier A, Roche MI, Wright JT: Benign Prenatal Hypophosphatasia: Further Evidence For a Dominant-Negative Mechanism and Possible Maternal Effects. Platform presentation at the David W. Smith Workshop on Malformations and Morphogenesis, Lake Arrowhead, CA, Sept. 2001.

Bellus GA, Aylsworth AS, Blanton SH, Kelly TE: Genotype-Phenotype Correlations in Hypochondroplasia. Platform presentation at The 5th International Skeletal Dysplasia Meeting, Oxford UK September 6th – 8th 2001.

Aylsworth AS, Mao R, Wilson WG, Kaiser-Rogers K, Tennison MB, Silverman LM, Snow K, Potter NT: Severe early infantile onset of developmental retardation, cerebellar hypoplasia, and seizures in an infant with a maternally inherited extreme CAG-repeat expansion in the Spinocerebellar Ataxia Type 2 (SCA2) gene. Platform presentation at the American Society of Human Genetics 50th annual meeting, Oct. 2000, Philadelphia

Svenson I, Gaskell P, Scott W, Lennon-Graham F, Wolpert C, Menold M, Aylsworth A, Warner C, Farrell C, Albright S, Vance J, Pericak-Vance M, Marchuk D: Hereditary spastic paraplegia: physical map of the SPG4 minimum candidate region and screening the map for trinucleotide repeats. Presented at the Unstable Microsatellites and Human Disease conference at UNC-CH, April, 1999.

Fordham LA, Aylsworth AS, Lawrence S, Bellus GA, Stevenson RE, Kelly TE: Radiographic Measurements of the Pediatric Pelvis: A Study to Delineate the Hypochondroplasia/Mild Short-Limbed Dwarfism Spectrum. Presented at Annual Radiology Research Review, UNC-CH, March 1999.

Smith AJK, Chen XN, McGillivray B, Wu J, Immken L, Calabrese G, Palka G, Greenberg F, Ippel E, Aylsworth A, Booth C, Moeschler J, Korenberg JR: Toward a molecular understanding of


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brain malformation and function in monosomy 21.. Platform presentation at the American Society of Human Genetics 48th annual meeting, Oct. 1998, Denver.

Pericak-Vance MA, Wolpert CM, Menold MM, Bass MP, Hauser ER, Donnelly SL, Ravan SA, Powell CM, Qumsiyeh M, Aylsworth AS, Vance JM, DeLong GR, Wright HH, Abramson RK, Gilbert JG, Cuccaro ML: Chromosome 7 and autistic disorder (AD). Am J Human Genet, 63(4), A16, 1998. Platform presentation at the American Society of Human Genetics 48th annual meeting, Oct. 1998, Denver.

Aylsworth AS, Bellus GA, Fordham LA, Stevenson RE, Kelly TE: A study of radiographic measurements of the dysmorphic pelvis to delineate the hypochondroplasia/mild short-limbed dwarfism spectrum. Platform presentation, David W. Smith Workshop on Malformations and Morphogenesis, August 8, 1998, Whistler, BC, Canada.

Distinct human syndrome in search of a mouse model: microcephaly, finger brachydactyly, toe syndactyly, and esophageal or duodenal atresia,” Nov. 20, 1997, Oak Ridge National Laboratory, TN.

Aylsworth AS, Faber GH, Horton WE: Clinical, radiographic, and pathologic features of the Mohr-Majewski phenotype. Platform presentation, David W. Smith Workshop on Malformations and Morphogenesis, Sept. 27, 1996, Lake Arrowhead, CA.

Bernard LE, Kalousek DK, Langlois S, Barrett IJ, Hansen WF, Aylsworth AS, Smith DI, Rao KW: Confined placental mosaicism for trisomy 2 with fetal maternal uniparental disomy of chromosome 2. Platform presentation (Dr. Bernard) Am Soc Hum Genet, Oct, 1995, Minneapolis.

Bellus GA, Szabo JK, McIntosh I, Kaitila I, Aylsworth AS, Hecht JT, Francomano CA: Hypochondroplasia: a second recurrent mutation of fibroblast growth factor receptor 3 (FGFR3) at nucleotide 1620. Platform presentation (Dr. Bellus) Am Soc Hum Genet, Oct, 1995, Minneapolis.

Casey B, Gebbia M, Devoto M, Nelson DL, Aylsworth AS: Complete reversal of left-right asymmetry as a manifestation of x-linked heterotaxy. Platform presentation (by Dr. Casey), David W. Smith Workshop on Malformations and Morphogenesis, Jul-Aug, 1995, Big Sky, Montana.

Aylsworth AS, Bellus GA, McIntosh I, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, and Francomano Clair A: Further clinical (phenotypic) heterogeneity associated with mutations in the fibroblast growth factor receptor 3 (FGFR3) locus: a recurrent mutation causes hypochondroplasia. Platform presentation, David W. Smith Workshop on Malformations and Morphogenesis, Jul-Aug, 1995, Big Sky, Montana.

Aylsworth, A.S.: “Developmental Anomalies Associated with Abnormal Determination of Laterality.” Invited plenery session presentation at the March of Dimes Birth Defects Foundation 25th Clinical Genetics Conference: Orlando, FL:, March 13, 1994.

Aylsworth AS: “A review of anomalies and syndromes associated with defects in the determination of laterality.” Platform presentation at the David W. Smith Workshop on Malformations and Morphogenesis, Mont Tremblant, Quebec, August, 1993.

Sulik KK, Mesrobian H-GJ, Aylsworth AS, Alles AJ: The pathogenesis of caudal dysgenesis (regression) as illustrated in animal models. Presented at the Fetal Genetic Pathology Workshop, Big Sky, Montana, Oct. 1991

Aylsworth AS: An overview of malformations associated with abnormal determination of laterality. Platform presentation at the Fetal Genetic Pathology Workshop, Big Sky, Montana, Oct. 1991


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Aylsworth AS, Sulik KK, Alles AJ: Toward a teratogenic mouse model for Townes syndrome. Platform presentation at the David W. Smith Workshop on Malformations and Morphogenesis, Lake Arrowhead-UCLA Conference Center, California, Sep-Oct, 1991

Kylstra JA, Aylsworth AS: Bilateral maculopathy in a patient with neurofibromatosis type 1 (NF1). Platform presentation (ASA) at the Neurofibromatosis Clinical Care Conference, Oct. 21, 1990, Cincinnati, OH.

Aylsworth, A.S. and Lin, A.E.: Male to male transmission in a second family supports autosomal dominant inheritance in Nager acrofacial dysostosis. Platform presentation at the Am. Soc. Human Genetics annual meeting, Cincinnati, OH, Oct. 20, 1990.

Aylsworth, A.S., Miller, C.G. and Mesrobian, H.J.: Familial recurrence of the prune belly phenotype. Platform presentation at the David W. Smith Workshop on Malformations and Morphogenesis, Lexington, KY, August, 1990.

Lin, A., Allanson, J., Aylsworth, A., Carey, J., Flannery, D., Kaplan, P., Korf, B., Riccardi, V.M., Saal, H., Stern, H.: Is there a distinctive facies in neurofibromatosis, type 1? Presented at the Annual Clinical Care Symposium sponsored by the National Neurofibromatosis Foundation, Baltimore, November, 1989.

Aylsworth, A.S., Horton, W.A., Ellison, D.A., Lamb, A.N. and Rao, K.W.: Dysmorphogenesis in Three Constitutional Diseases of Bone: Achondrogenesis, Camptomelic Dysplasia and Spondylocostal Dysostosis. Presented at the David Smith Workshop on Malformations and Morphogenesis, Madrid, Spain, May, 1989.

Aylsworth, A.S. and Laco, J.M.: The Association of Central Nervous System Malformations with Defects in Determination of Laterality. Presented at the David Smith Workshop on Malformations and Morphogenesis, Oakland, CA., August, 1988.

Aylsworth, A.S. and Friedman, P.F.: Father to Son Transmission of Nager Acrofacial Dysostosis. Presented at the Clinical Genetics Conference, Minneapolis, July, 1987;

Stevenson, R.E., Kelly,J.C., Aylsworth, A.S., and Phelan, M.C.: Vascular Basis for Neural Tube Defects. Presented (ASA) at the Manchester Birth Defects Conference, Manchester, England, Oct., 1986.

Stevenson, R.E., Kelly,J.C., Aylsworth, A.S., and Phelan, M.C.: Vascular Basis for Neural Tube Defects. Presented at the Annual David W. Smith Workshop on Malformations and Morphogenesis, August, 1986.

Lachiewicz, A.M., Gullion, C.M., Spiridigliozzi, G.A., and Aylsworth, A.S.: Declining IQ Scores of Fragile X Youngsters. Presented (A.M.L.) at the XVIII International Congress of Pediatrics, Honolulu, July, 1986.

Lachiewicz, A.M., Gullion, C.M., Spiridigliozzi, G.A., and Aylsworth, A.S.: Decline in IQ Scores of Young Fragile X Males. Presented (A.M.L.) at the Annual Meeting of the Society for Behavioral Pediatrics, May, 1986.

Aylsworth, A.S., Horton, W.A., and Seeds, J.W.: New Observations in Two Types of Lethal Dwarfism: Achondrogenesis with Cleft Palate and Thanatophoric Dysplasia with Cloverleaf Skull. Presented at the David W. Smith Workshop on Malformations and Morphogenesis, Santa Fe, N.M., June, 1985.

Aylsworth, A.S.: Mutation Reversion in Clinical Genetics. Presented to the Southern Genetics Group, Navarre Beach, Fla., July, 1984.


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Aylsworth, A.S.: Mutation Reversion: A Possible Explanation for Variability of Phenotypic Expression. Proc. Greenwood Genetics Center 4:88, 1985. Presented at the David W. Smith Workshop on Malformations and Morphogenesis, Boca Raton, Fla., June, 1984.

Messenheimer, J.A., Greenwood, R.S., Aylsworth, A.S., Brickley, J.J., and Ball, C.J.: Electrophysiological changes in Sialidosis Type 2. Presented to the American EEG Society, 1983.

Kahler, S.G. and Aylsworth, A.S.: Midline Porencephaly. Presented at the 1982 David Smith Workshop on Malformations and Morphogenesis.

Ifft, R.D., Buchanan, P.D., Bishop, E., Mittelstaedt, C., VanWinter, J., and Aylsworth, A.: Early prenatal ultrasound diagnosis of urethral atresia in a fetus with the VATER association. Presented at the 1981 Birth Defects Conference, San Diego, California, June, 1981.

Ozimek, C.D., Grimson, R.C., and Aylsworth, A.S.: Tracheoesophageal fistula and esophageal atresia in North Carolina: A study of clustering and possible association with infectious disease. Presented to the American Pediatric Society - Society for Pediatric Research, San Francisco, April, 1981.

Horton, W.A. and Aylsworth, A.S.: Acromesomelic dysplasia, a histochemical study of the endochondral growth plate. Presented to the American Pediatric Society-Society for Pediatric Research, San Francisco, April, 1981.

Kahler, S.G., Vaughan, R., and Aylsworth, A.S.: Bilateral Renal Agenesis in the Fraser Cryptophthalmos Syndrome. Presented at the Conference on Malformations and Morphogenesis, San Diego, Cal., September, 1980.

Kahler, S.G. and Aylsworth, A.S.: Trigonocephaly and Associated Malformations. Presented at the Conference on Malformations and Morphogenesis, San Diego, Cal., September, 1980.

Ozimek, C.D., Grimson, R., and Aylsworth, A.S.: An Epidemiologic Study of Tracehoesophageal Fistula and Esophageal Atresia in North Carolina. Presented (A.S.A.) at the first Conference on Malformations and Morphogenesis, San Diego, Cal., September, 1980.

Rao, K.W., Buchanan, P.D., Kahler, S.G., Aylsworth, A.S., and Doerr, C.L.: Chromosome Instability in a Patient with Severe Growth Failure. Presented to the American Society of Human Genetics, Minneapolis, Minn., October, 1979.

Aylsworth, A.S., Thomas, G.H., and Hood, J.L.: The Severe Infantile Form of Neuraminidase Deficiency. Presented to the American Society of Human Genetics, Minneapolis, Minn., October, 1979.

Aylsworth, A.S. and Kirkman, H.N.: Genetic Counseling for Autosomal Dominant Disorders with Incomplete Penetrance. Presented at the 1978 Birth Defects Conference, San Francisco, June, 1978.

Buchanan, P.D., Rao, K.W., Doerr, C.L., and Aylsworth, A.S.: A Complex Translocation Involving Chromosomes 3, 11, and 14 with an Interstitial Deletion, del(14) (q13-q22) in a Child with Congenital Glaucoma and Cleft Lip Palate. Presented at the 1977 Birth Defects Conference, Memphis, Tenn., June, 1977.

Rao, K.W., Buchanan, P.D., and Aylsworth, A.S.: Asymmetric Clinical and Cytogenetic Findings in a Four Year Old Girl with Trisomy 18 Mosaicism: Presented at the 1977 Birth Defects Conference, Memphis, Tenn., June, 1977.

Wilson, W.G., Aylsworth, A.S., Folds, J.D., and Whisnant, J.K.: Cartilage-Hair Hypoplasia with Combined Immune Deficiency: Variable Expression and Development of Immunologic


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Functions in Siblings. Presented at the 1977 Birth Defects Conference, Memphis, Tenn., June, 1977.

Arbisser, A.I., Donnelly, K.A., Scott, C.I., DiFerrante, N.M., Mazow, M.L., Stevenson, R.E., Aylsworth, A.S., and Lenier, J.D.: Enzymatic Diagnosis in Atypical Keratan Sulfate Excreting Mucopolysaccharidosis. Presented to the Association for Research in Vision and Ophthalmology, Houston, Texas, November, 1975.

Arbisser, A.I., Donnelly, K.A., Scott, C.I., DiFerrante, N.M., Stevenson, R.E., Aylsworth, A.S.: Urine Enzyme Diagnosis in Atypical Keratan Sulfate Excreting Mucopolysaccharidosis. Presented to the American Society of Human Genetics, 27th Annual Meeting, Baltimore, Md., October, 1975.

Swisher, C.N., and Aylsworth, A.S.: Choreoathetosis Subsequent to Severe Acidosis and Hyperammonemia in Children. Presented at Child Neurology Society Meeting, October, 1974, Madison, Wisconsin.

Rennert, O., Julius, R., Aylsworth, A., Williams, C., and Greer, M.: A New Disorder of Phenylalanine Metabolism Associated with Ataxia, Convulsions, and Retardation: Mandelic Aciduria. Presented at Plenary Session, Society for Pediatric Research, May, 1971, Atlantic City, New Jersey.

Exhibits/Posters

Milko L, O’ Daniel J, Foreman K, Turcott C, Booker J, Boshe L, Calikoglu M, Aylsworth A, Muenzer J, Frazier D, Powell B, Roche M, Strande N, Vora N, Powell C, Berg J: An age-based categorical framework to guide informed decision-making about next generation sequencing results in newborn screening. Poster presentation at the 64th Annual Meeting of the American Society of Human Genetics, San Diego, California, October 18 - 22, 2014.

Shapira SK, Tian L, Aylsworth AS, Elias ER, Hoover-Fong JE, Lohr Meeks NJ, Souders MC, Tsai AC, Zackai EH, Alexander AA, Schieve LA, PhD: Development of a Novel Protocol for Characterizing Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorders. Presented at the International Meeting for Autism Research, May, 2014.

Watkins S, Meyer R, Aylsworth AS, Ronald Strauss R: Third grade academic performance among children with orofacial clefts: a population based study. Poster presentation at the annual meeting of the Society for Pediatric and Perinatal Epidemiologic Research, Seattle WA, June 2014.

Milam RW Jr, Cabrera MT, Zdanski CJ, Marshall DD, Carter L, Wereszczak JK, and Aylsworth AS: Further Support For First Trimester Disruptions Causing The Oromandibular-Limb Hypogenesis Spectrum Of Anomalies. Presented at the 34th Annual David W. Smith Workshop on Malformations and Morphogenesis, August 2013, Mont-Tremblant, Quebec, Canada.

Stingone JA, Luben TJ, Daniels JL, Fuentes M, Richardson DB, Herring AH, Carmichael SL, Aylsworth AS, Anderka M, Botto L, Gilboa SM, Langlois PH, Lupo PJ, Mosley BS, Shaw GM, Siffel C, Olshan AF and the National Birth Defects Prevention Study: Investigating the impact of folic-acid supplement use on the relationship between exposure to PM2.5 during early pregnancy and congenital heart defects. Presented at the Society for Pediatric and Perinatal Epidemiologic Research Annual Meeting, June 18, 2013, Boston MA.

Jones MC, Cohen SR, Jones KL, Aylsworth AS, Leppig K, Hannibal M: Craniosynostosis: An Uncommon Feature of Kabuki Syndrome. Report of Seven Cases and Review of Previous Reports. Presented at the International Congress on Cleft Palate and Related Disorders, May 2013, Orlando, Florida


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Powell CM, Aylsworth AS, Turcott CM, Spector E: Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development and a unique FGFR3 mutation. Presented at the 2013 Annual Meeting of the American College of Medical Genetics, March 19-23, Phoenix, AZ.

Hayden M, Aylsworth AS, Turcott CM, Rao K, Kaiser-Rogers K: Chromosome 18 Rod/Ring Mosaicism Likely Due to a Rare De Novo Intrachromosomal Exchange Event. Presented at the 2013 Annual Meeting of the American College of Medical Genetics, March 19-23, Phoenix, AZ.

Keelean-Fuller D, Davenport ML, Haverfield E, Aylsworth AS: Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair. Presented at the 2013 Annual Meeting of the American College of Medical Genetics, March 19-23, Phoenix, AZ.

Aylsworth AS, Lipinski RJ, Finnell RH, Botto L, Frias J, Holmes LB, Keppler-Noreuil KM, Pober BR, Schaefer GB, Scheuerle A, Stevenson RE, Luben TJ, Olshan AF, Herring AH, Sulik KK: Constructing a Timeline of Critical Developmental Stages for the Teratogenic Causation of Human Malformations. Presented at the David W. Smith Workshop on Malformations and Morphogenesis, Lake Lanier Conference Center, Georgia, August 2012.

Zhou J, Herring AH, Aylsworth AS, Olshan AF: Nonparametric Bayes Methods for Estimation in High-Dimensional Contingency Tables. Presented at The International Society for Bayesian Analysis Eleventh World Meeting, June 2012, Kyoto, Japan.

Turcott CM, Kaiser-Rogers K, Hayden M, Aylsworth AS: A novel interstitial fibrillin-2 (FBN2) gene deletion causes features of congenital contractural arachnodactyly (CCA). Presented at the annual meeting of the American College of Medical Genetics, March 2012.

Keelean-Fuller D, Kaiser-Rogers K, Zvereff V, Aylsworth AS: A unique duplication of 2q32.1q34 and loss of heterozygosity of 2q34qter illustrates the challenges of providing accurate genetic counseling. Presented at the annual meeting of the American College of Medical Genetics, March 2012.

Aylsworth AS, Lipinski RJ, Finnell RH, Luben TJ, Olshan AF, Herring AH, Sulik KK: A Timeline of Critical Developmental Stages for the Induction of Human Malformations. Presented at the annual meeting of the American College of Medical Genetics, March 2012.

Vatta M, Tennison MB, Aylsworth AS, Turcott CM, Guerra MP, Eng CM, Yang Y. Novel STXBP1 Mutation in Genetic Focal Seizure with Neonatal Onset. (1117W) Presented at the 12th International Congress of Human Genetics/61st Annual Meeting of The American Society of Human Genetics, October 12, 2011, Montreal, Canada

Aylsworth AS, Kaiser-Rogers K, Powell CM, Keelean-Fuller D, Jewett T, Buchman C: Two Novel, Potentially Recessive Phenotypes: 1) Kyphomelic Dysplasia (KD) with Cleft Lip and Palate, and 2) Primordial Dwarfism with Inner Ear Malformation. Presented at the annual David W. Smith Workshop on Malformations and Morphogenesis, Lake Arrowhead, September, 2011.

Turcott C, Montgomery N, Tepperberg JH, McDonald M, Aylsworth AS. De novo 11p11.2 microdeletion without clinical features of Potocki-Shaffer syndrome narrows a critical region for intellectual disability. Presented at the Annual Meeting of the American College of Medical Genetics, March, 2011.

Aylsworth A, Fordham L, Turvey T, Ewend M, Jones JR: FGFR2 Craniosynostosis with Carpal

and Tarsal Fusions. Presented at the David W. Smith Workshop on Malformations and

Morphogenesis, August, 2010


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Wheeler FC, Aylsworth AS, Keelean-Fuller D, Kaiser-Rogers K: Novel age- and gender-related clinical features in a 27 year-old patient with duplication 17p13.3. Presented at the Annual Meeting of the American College of Medical Genetics, March, 2010.

Aylsworth AS, Rosenfeld J, McPherson EW, Powell CM, Asamoah A, Mundlos S, Shaffer LG, and the 1q21.1 Study Group: Phenotypic variability in patients with chromosomal microdeletions at 1q21.1, including deletions confined to the proximal TAR region. Presented at the Annual Meeting of the American College of Medical Genetics, March, 2009.

Haeri S, Devers PL, Kaiser-Rogers KA, Moylan VJ Jr., Torchia BS, Horton AL, Wolfe HM, Aylsworth AS: Interstitial deletion in the long arm of chromosome 17 in an infant with Prune Belly Syndrome. Presented at the Annual Meeting of the American College of Medical Genetics, March, 2009.

O’Neill S, Moylan VJ Jr., Bouldin TW, Menard MK, Aase JM, Shaffer LG, Kaiser-Rogers, K, Aylsworth AS: Aase-Smith-like arthrogryposis syndrome associated with two microdeletions of unknown significance involving 3p12.2 and 1q21.1. Presented at the annual David W. Smith Workshop on Malformations and Morphogenesis, August, 2008, Mont Tremblant, QC, Canada.

Keelean-Fuller D, Aylsworth AS, Gucsavas-Calikoglu M, Koepke J: Deletion of 2q37: Report of Four New Cases and Review of the Literature. Presented at the 26th NSGC Annual Education Conference, Kansas City, MO, October 13, 2007.

Basinger AA, Kranz C, Gucsavas-Calikoglu M, Powell CM, Henderson FW, Freeze HH, Aylsworth AS: Expanding spectrum of CDG-Ig: Siblings with prenatal-onset skeletal dysplasia, B-cell lymphopenic hypogammaglobulinemia, cardiac and genital malformations. American Society of Human Genetics, New Orleans, October, 2006.

Stamm D, C. Powell, S. Kahler, A. Aylsworth, K. Deak, S. West, D. Craig, D. Lince, D. Stephan, J. Gilbert, M. Speer: Genome-wide SNP chip homozygosity mapping defines critical region for Native American Myopathy. American Society of Human Genetics, Oct. 2005, Salt Lake City.

Scanga L, Chaing S, Powell C, Aylsworth A, Harrell LJ, Henshaw NG, Civalier C, Thorne L, Sailus J, Weck K, Booker J, Gulley M: Diagnosis of Congenital CMV Infection by PCR of Dried Blood Spots on Perinatal Cards. Association for Molecular Pathology, Nov. 10-14, 2004, Los Angeles.

Kearney HM, Kaiser-Rogers K, Aylsworth AS, Rao, KW: Microduplication of Chromosome 17 Involving The Miller-Dieker Region; dup(17)(p13.2p13.3). American Cytogenetics Conference, 2004.

Lux FG, Aylsworth AS, Blanton SH, Kelly TE, Bellus GA, and The Genentech Hypochondroplasia Study Group: Identification of a Putative New Hypochondroplasia Mutation in the Intracellular Juxtamembrane Domain of FGFR3. Poster presentation at the Am. Society of Human Genetics, Baltimore, 2002.

Quigley DI, Kaiser-Rogers K, Aylsworth AS, Rao KW: Submicroscopic deletion 9(q34.4) and duplication 19(p13.3) identified by subtelomere specific FISH probes. Poster presentation at the Am. Society of Human Genetics, Baltimore, 2002.

Aylsworth AS, Bellus GA, Blanton SH, Kelly TE, and The Genentech Hypochondroplasia Study Group: Genotype-phenotype correlations in hypochondroplasia: progress report from an international collaborative project. Am. Society of Human Genetics, San Diego, 2001.

Aylsworth AS, Bellus GA, Blanton SH, Kelly TE, and the Genentech Hypochondroplasia Study Group: Genotype-Phenotype Correlations In Hypochondroplasia: Update From The Genentech Hypochondroplasia Study Group. Presentation at the David W. Smith Workshop on Malformations and Morphogenesis, Lake Arrowhead, CA, Sept. 2001.


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Fordham LA, Aylsworth AS, Lawrence SM, Chung CJ: Normal pelvic measurements and review of syndromes presenting with characteristic pelvic configurations. Radiological Society of North America, Nov. 1999.

Aylsworth AS, Kelly TE, Blanton SH, Spector E, Fordham LA, Stevenson RE, Sollenberger J, Francomano CA, Bellus GA: Genetic heterogeneity and therapy potential in hypochondroplasia (HCH): preliminary observations and proposal for an international collaborative study. Poster presentation at the American Society of Human Genetics annual meeting, San Francisco, October, 1999.

Gaskell PC, Scott WK, Lennon-Graham F, Wolpert CM, Menold MM, Aylsworth AS, Warner C, Farrell CD, Albright SG, Vance JM, Marchuk DA, Pericak-Vance MA: Clinical and genetic studies in uncomplicated autosomal dominant familial spastic paraplegia. Poster presentation at the American Society of Human Genetics 48th annual meeting, Oct. 1998, Denver.

Melvin EC, Viles KD, Mackey JF, Luccas A, Franklin A, Albright S, Aylsworth A, Worley G, Brei T, Buran C, Vance JM, Pericak-Vance MA, George TM, Speer MC, and the NTD Collaborative Group: Investigations of candidate genes for neural tube defects implicated from mouse models. Am Soc Hum Genet Annual Meeting, Oct, 1997, Baltimore.

Reitnauer PJ, Aylsworth AS, Hughes-Benzie RM: Simpson-Golabi-Behmel syndrome and congenital cutaneous mastocytosis: Implications for the role of the Xq26 region in growth regulation. David W. Smith Workshop on Malformations and Morphogenesis, Litchfield Beach, SC, August, 1997

Dickerson C, Du Y-Z, Aylsworth A, Schwartz C: A silent mutation creates a novel splice site in the L1CAM gene and is responsible for X-linked hydrocephalus (HSAS). Nat’l Soc. of Genetic Counselors annual meeting, Oct., 1997.

Reitnauer PJ, Black HR, Leigh MW, Aylsworth AS: A three generation family with features of lacrimo-auriculo-dento-digital syndrome (LADD) and severe chronic lung disease. Poster presentation at the annual meeting of the American Pediatric Society/ Society for Pediatric Research, May 1996.

Mundlos S, Knoll JHM, Mundlos C, Huang LF, Selby P, Aylsworth A, Albright S, Henn W, Mulliken JB, Olsen BR: Cleidocranial dysplasia in mice and men. Am Soc Hum Genet, Oct, 1995, Minneapolis

Lennon F, Gaskell PC, Wolpert C, Aylsworth AS, Malin D, Warner C, Farrell CD, Boustany RN, Albright SG, Kingston HM, Cummings WJK, Hogan EL, Vance JM, Pericak-Vance MA: Linkage and heterogeneity in hereditary spastic paraparesis. Am Soc Hum Genet, Oct, 1995, Minneapolis.

Heim RA, Kam-Morgan LNW, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC: Neurofibromatosis 1 (NF1) truncating mutations are dispersed throughout the NF1 gene. Am Soc Hum Genet, Oct, 1995, Minneapolis.

Reitnauer PJ, Albright SG, Aylsworth AS, Powell CM, Kaiser-Rogers KA, Rao KW: Subtle familial translocation 11;22 associated with macrocephaly in balanced carriers. Am Soc Hum Genet, Oct, 1995, Minneapolis.

Casey B, Gebbia M, Devoto M, Nelson D, Aylsworth AS: Females with midline malformations and complete reversal of left-right asymmetry in a family with apparent X-linked heterotaxy. Am Soc Hum Genet, Oct, 1995, Minneapolis.

Reitnauer PJ, Farber RA, Aylsworth AS: Monozygotic twins discordant for birth defects associated with disulfiram and ethanol in the first trimester. David W. Smith Workshop on Malformations and Morphogenesis, Jul-Aug, 1995, Big Sky, Montana.


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Kaiser-Rogers KA, Albright SG, Aylsworth AS, Tepperberg JH, Gowan LC, Rao KW: A derivative chromosome composed of 18p and 21q associated with different phenotypes in a mother and son. 2nd Joint Clinical Genetics Meeting (26th Annual March of Dimes Clinical Genetics Conference and 2nd Annual Meeting of the American Colege of Medical Genetics), March, 1995, Los Angeles

Wang Y, Treat K, Schroer RJ, LePaslier D, O’Brien JE, Callen DF, Aylsworth AS, Stevenson RE, Schwartz CE: Isolation of a 2 Mb YAc contig encompassing the branchio-oto-renal (BOR) syndrome locus in 8q13.3 American Society of Human Genetics, Montreal, October, 1994.

Gilbert J, Wolpert C, Kumar A, Kandt R, Oiu H, Pufky J, Lennon F, Aylsworth A, Nellist M, Sampson J, Roses A, Pericak-Vance MA: Mutation analysis of tuberous sclerosis families using the chromosome 16 (TSC2) tuberin gene. American Society of Human Genetics, Montreal, October, 1994.

Heim RA, Marchuk DA, Silverman LM, Aylsworth AS, Farber R: Analysis of a new mutation in the neurofibromatosis (NF1) gene leads to characterization of an exon in an NF1-related gene on chromosome 15. American Society of Human Genetics, Montreal, October, 1994.

Hicks RPB, Timmons MC, Aylsworth AS: Holoprosencephaly with caudal dysplasia: pseudo-trisomy 13 or a distinct entity? American Society of Human Genetics, Montreal, October, 1994.

Gerwehr S, Chen X-N, Schipper R, Gonsky R, Sun Z-G, Aylsworth AS, Calabrese G, Estabrooks L, Falik-Borenstein T, Immken L, Mennuti M, Muenke M, Palka G, Punnett H, Roland B, Soukup S, Korenberg J: Toward a molecular understanding of the monosomy 21 phenotypes. Poster presentation at the American Society of Human Genetics, New Orleans, October, 1993.

Callanan NP, Sorenson JR, Cheuvront B, Talton SL, DeVellis BM, and Aylsworth AS: Testing of partners and genetic counseling for CF carriers identified in a kinship based screening program. Poster presentation at the American Society of Human Genetics, New Orleans, October, 1993.

Tepperberg JH, Tennison MB, Kaiser-Rogers K, Albright SG, Aylsworth AS, and Rao KW: An inherited cryptic translocation between chromosomes 13 and 15, detected by FISH, in a child with Angelman syndrome. Poster presentation at the American Society of Human Genetics, New Orleans, October, 1993.

Estabrooks LL, Rao KW, Driscoll DA, Ikonen E, Korf B, Crandall BF, Aylsworth AS: A preliminary phenotypic map of chromosome 4p16. Poster presentation at the American Society of Human Genetics, New Orleans, October, 1993.

Lachiewicz A, Spiridigliozzi G, Rao K, Aylsworth A, Richie R, Schwartz C, Tarleton J: A de novo deletion in Xq27-q28 spans at least 3 megabases and results in fragile X syndrome. Presented at the Sixth International Workshop on the Fragile X and X-linked Mental Retardation, Queensland, Australia, August 3-6, 1993.

Kaiser-Rogers KA, Roche MI, Davenport ML, Aylsworth AS, and Rao KW: Multiple cell lines observed at CVS and amniocentesis in a normal female infant with 46,XX/47,XX,+der(Y) mosaicism. Presentation at the annual meeting of the American Society of Human Genetics, October, 1992.

Kepten I, Rao KW, Kupfer S, and Aylsworth AS: Hypogonadotropic hypogonadism in a dysmorphic patient with a minute proximal 8p deletion. Presentation at the annual meeting of the American Society of Human Genetics, October, 1992.

Aylsworth AS: Microtia and unusual eyebrows (with variable developmental delay, ptosis, congenital heart disease, postaxial polydactyly and dermatoglyphic abnormalities) in a girl, her mother and sister. Poster presentation at the David W. Smith Workshop on Malformations and Morphogenesis, Wake Forest University, Aug. 1992.


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Aylsworth AS, Gold SH: Immunopancytopenia (“Evans syndrome”) and dysmorphic features in two unrelated girls. Poster presentation at the David W. Smith Workshop on Malformations and Morphogenesis, Wake Forest University, Aug. 1992.

Vaughn BV, Greenwood RS, Tennison MB, Aylsworth AS: Electroencephalographic findings in patients with terminal deletions of the long arm of chromosome 1. Presented at the American Electroencephalographic Society annual meeting, Philadelphia, Dec., 1991

Boyd TK, Flannagan LM, Aylsworth AS: Phenotypic overlap between the OEIS complex and the Jarco-Levin syndrome. presented at the David W. Smith Workshop on Malformations and Morphogenesis, Lake Arrowhead-UCLA Conference Center, California, Sep-Oct, 1991

Estabrooks LL, Lamb AN, Aylsworth AS, Callanan NP, Farber RA, Vo T, Carlock L, Bengtsson U, Wasmuth JJ, Altherr MR, Rao KW: Characterization of chromosome 4p deletions and rearrangements. 8th International Congress of Human Genetics, Washington, DC, Oct., 1991.

Friedman KJ, Hostetler D, Highsmith WE, Kepten E, Silverman LM, Aylsworth AS: Linkage studies in a four generation family with X-linked hydrocephalus associated with flexed index fingers. Presented at the 23rd Annual March of Dimes Clinical Genetics Conference, Vancouver, BC, July 1991.

Pruchno, C.J., Willing, M.C., Starman, B.J., Aylsworth, A., Byers, P.H.: Inefficient splicing and production of both a normal and shortened mRNA from the same COL1A1 allele of type I collagen in a father and son with osteogenesis imperfecta (OI). American Society of Human Genetics Annual Meeting, Baltimore, Nov., 1989.

Rao, K.W., Callanan, N.P., Wilson, S., Talley, W.G., and Aylsworth, A.S.: Hits after misses: The value of rekaryotyping. American Society of Human Genetics Annual Meeting, Baltimore, Nov., 1989.

Murayama, K., Greenwood, R.S., Aylsworth, A.S., and Rao, K.W.: The 1q- Syndrome: Neurological, Behavioral, and Linguistic Uniqueness. Presentation at the Child Neurology Society Meeting, San Antonio, October, 1989.

Friedman, P.A., Rao, K.W., Teplin, S.W. and Aylsworth, A.S.: Provisional Deletion Mapping of the Focal Dermal Hypoplasia (FDH) Gene to Xp22.31. Poster presentation at the American Society of Human Genetics annual meeting, October, 1988.

Silverman, L.M., Bankson, D.D., Hofman, L.F., Pericak-Vance, M.A., Gaskell, P.C. and Aylsworth, A.S.: Newborn Screening for Duchenne Muscular Dystrophy (DMD) Using an Immunologic CK MB Assay. Poster presentation at the American Society of Human Genetics annual meeting, October, 1988.

Seizinger, B.R., Rouleau, G.A., Ozelius, L.J., Lane, A.H., Faryniarz, A.G., Chao, M.V., Huson, S., Korf, B.R., Parry, D.M., Pericak-Vance, M.A., Collins, F.S., Hobbs, W.J., Falcone, B.G., Falcone, J.A., Iannazzi, J.A., Roy, J.C., StGeorge-Hyslop, P.S., Tanzi, R.E., Bothwell, M.A., Bothwell, M., Upadhyaya, M., Harper, P., Goldstein, A.E., Hoover, D.L., Bader, J.L., Spence, M.A., Mulvihill, J.J., Aylsworth, A.S., Vance, J.M., Rossenwasser, G.O.D., Gaskell, P.C., Roses, A.D., Martuza, R.L., Breakefield, X.O., and Gusella, J.F.: Genetic Linkage of von Recklinghausen Neurofibromatosis to the Nerve Growth Factor Receptor Gene. Presented at the annual meeting of the American Society of Human Genetics, San Diego, October, 1987.

Aylsworth, A.S., Powers, S.K. and Kahler, S.G.: The Proteus Syndrome with Parental Consanguinity. Presented at the Smith Conference on Malformations and Morphogenesis, August, 1987.

Aylsworth, A.S. and Friedman, P.A.: Father to Son Transmission of the Nager Syndrome. Presented at the Smith Conference on Malformations and Morphogenesis, August, 1987;


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Aylsworth, A.S., Stein, L.D. and Warren, R.W.: Epiphyseal Dysplasia, Microcephaly and Immune Deficiency. Presented at the Smith Conference on Malformations and Morphogenesis, August, 1987.

Aylsworth, A.S., Pericak-Vance, M.A., Rosenwasser, G., Vance, J.M., Gaskell, P.C., Stajich, J.M., and Roses, A.D.: Variability of Clinical Expressivity in a Large Kindred with Neurofibromatosis. Presented at the Seventh International Congress of Human Genetics, Berlin, Sept., 1986. (Recipient of Travel Award from the American Society of Human Genetics).

Lachiewicz, A.M. and Aylsworth, A.S.: Mild Impairment of Development and Behavior in Boys with Fragile X. Poster presentation at the 1985 meeting of the American Society of Human Genetics.

Aylsworth, A.S., Kredich, N.M., Jackson, L.G., and Rao, K.W.: Spontaneous Reversion of a Human Hypoxanthine Phosphoribosyltransferase (HPRT) Deficient Mutant. Presented at the annual meeting of the American Society of Human Genetics, Toronto, November, 1984.

Aylsworth, A.S., Jackson, L.G., and Kredich, N.M.: Spontaneous Reversion at the HPRT Locus in Cells from a Patient with a Mild Variant of the Lesch-Nyhan Syndrome. Poster presentation at the American Pediatric Society-Society for Pediatric Research, San Francisco, Calif., May, 1984.

Aylsworth, A.S. and Herman, G.: Lethal infantile forms of osteogenesis imperfecta. Poster presentation at the 1982 Birth Defects Conference, Birmingham, AL.

Visiting Professorships, Lectureships, Invited talks at Symposia, etc. (listing of local presentations appendix available on request)

Faculty member, “Genetic Analysis of Complex Human Diseases,” R. David Thomas Center, Duke Univ., Durham, NC, June 12-15, 2006: Lecture covered Basic Concepts in Medical Genetics, Mechanisms of Inheritance, and Phenotypes and Phenotyping.

Faculty member, “Genetic Analysis of Complex Human Diseases,” R. David Thomas Center, Duke Univ., Durham, NC, May 15-18, 2005: Lecture covered Basic Concepts in Medical Genetics, Mechanisms of Inheritance, and Phenotypes and Phenotyping.

“Obstetric Cholestasis: Possible Risk Factor For Autism.” Presentation for the Duke Center for Human Genetics Autism Research Group, Duke Univ., Durham, NC, Jan 11, 2005

Faculty member, conference on “Fetal Alcohol Spectrum Disorder – Research to Practice” at the William and Ida Friday Center for Continuing Education, UNC Chapel Hill, September 11, 2004.

Faculty member, “Genetic Analysis of Complex Human Diseases,” R. David Thomas Center, Duke Univ., Durham, NC, April, 2004: Lecture covered Basic Concepts in Medical Genetics, Mechanisms of Inheritance, and Phenotypes and Phenotyping.


“The Role of the Genetic Specialist.” Presented at the workshop “Integrating Genetics into Clinical Practice” at the Friday Center, Chapel Hill, March 20, 2003.

“Clinical Phenotypes Associated with L1CAM Mutations.” Presented at the symposium “X-linked Mental Retardation and the L1 Cell Adhesion Molecule: Integration of Clinical and Basic Science Perspectives” at the Kenan Center on the UNC Campus, May 15, 2002.


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Faculty member, “Genetic Analysis of Complex Human Diseases,” R. David Thomas Center, Duke Univ., Durham, NC, May, 2001: Lecture covered Basic Concepts in Medical Genetics, Mechanisms of Inheritance, and Phenotypes and Phenotyping.

“Asymmetry: Basic Science and Clinical Perspectives.” 10th Annual Gorlin Conference: October 2000, Minneapolis.

Faculty member, “Genetic Analysis of Complex Human Diseases,” R. David Thomas Center, Duke Univ., Durham, NC, 4/2-5/2000: Lecture covered Basic Concepts in Medical Genetics, Mechanisms of Inheritance, and Phenotypes and Phenotyping.

Faculty member, “1999 Genetics Review Course,” sponsored by the American College of Medical Genetics, 4/23-25/99, Chicago.

Faculty member, “Genetic Analysis Methods for Medical Researchers,” course partially funded by the National Human Genome Research Institute, Duke Univ., Durham, NC, 3/14-17/99: Lecture covered Basic Concepts in Medical Genetics, Mechanisms of Inheritance, and Phenotypes and Phenotyping.

Faculty member, “Genetic Analysis Methods for Medical Researchers,” course for scientists from Glaxo-Wellcome, London, 9/29-30/98.

Faculty member, “Genetic Analysis Methods for Medical Researchers,” course for scientists from Glaxo-Wellcome, Duke Univ., Durham, NC, 5/27-28/98.

Faculty member, “Genetic Analysis Methods for Medical Researchers,” course partially funded by the National Human Genome Research Institute, Duke Univ., Durham, NC, 4/5-8/98.

Faculty member, “Genetic Analysis Methods for Medical Researchers,” course partially funded by the National Human Genome Research Institute, Duke Univ., Durham, NC, 5/4-7/97.

Faculty member, “Genetic Analysis Methods for Medical Researchers,” course partially funded by the National Center for Human Genome Research, Boston, MA., 4/14-17/96.

“Implications of the Human Genome Project for Medical Practice,” Genetics in the 90’s Conference, Columbus, Ohio, 3/22/96

Faculty member, “Genetic Analysis Methods for Medical Researchers,” course partially funded by the National Center for Human Genome Research, Duke Univ., Durham, NC, 3/26-29/95

Faculty member for “Genetic Analysis Methods for Medical Researchers” course, partially funded by the National Center for Human Genome Research, Duke University, Durham, NC, 5/15-18/1994

March of Dimes Birth Defects Foundation 25th Clinical Genetics Conference: “Developmental Anomalies Associated with Abnormal Determination of Laterality.” Orlando, FL:, March 13, 1994.

Fifth Annual Leo M. Croghan Conference on Developmental Disabilities, Raleigh, NC, “New Concepts and Advances in Genetics: Implications for Mental Retardation.” Dec. 6, 1993.

South Carolina Genetics Conclave, Feb. 12, 1993.

American Cleft Palate-Craniofacial Association Symposium, “The Facial Skeleton in Clefts.” St. Louis, MO, May 13-14, 1990. “Clinical application of recurrence risk to genetic counseling.”


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NIDR Conference on Risk Assessment in Dentistry, Chapel Hill, N.C., June 3, 1989. “The Prediction of Risk and Genetic Counseling for Craniofacial Abnormalities.”

Village Elders in Dialogue with UNC Scholars: “New Advances in the Exciting Fields of Medical Genetics and Dysmorphology.” Chapel Hill, March 21, 1987

Shriner’s Hospital Conference on Limb Malformations, Greenville, S.C., October, 1984.

South Carolina Conference on Mental Retardation, Hickory Knob, S.C., June, 1982.

South Carolina Pediatric Centers Grand Rounds Teleconference, March, 1981. “Lysosomal Storage Diseases.”

Annual Post-Graduate Seminar, Greenville, S.C., March, 1981.

Conference on Genetics in Maternal and Child Health Care, Bowman Gray School of Medicine, September, 1980.

Annual Short Course in Medical and Experimental Mammalian Genetics, Jackson Laboratory, Bar Harbor, Maine, August, 1980. “Achondroplasia.”

Greenwood Genetics Center, Greenwood, S.C., August, 1979.

The Fourteenth Annual John W. Umstead Series of Distinguished Lectures, Raleigh, N.C., February, 1978. “The Burden and Prevention of Genetic Diseases and Their Consequences. Part I: Malformations.”

Second Annual Interdisciplinary Institute, Gatlinburg, Tenn., May 1976.

Greenwood Genetics Symposium, Greenwood Genetics Center, Greenwood, S.C., October, 1975. “The Health Burden of Genetic Disease in South Carolina.”

Teaching Responsiblities

Annual or Recent Lectures and Seminars - (See appendix for listing since 1985)

Faculty member, “Genetic Analysis Methods for Medical Researchers,” course, 1994 – 2006.

UNC-CH School of Medicine Embryology course, annual lecture(s) for the first year students; through 1996.

UNC-CH - Anatomy 123/Toxicology 123, Developmental Toxicology and Teratology - every other year, 1 - 2 hour seminar; through 2005.

UNC-CH School of Medicine - Seminars for 3rd year students on Pediatrics (throughout the year until recently when other colleagues in the division have given these)

UNC-CH School of Dentistry, lectures/seminars given in previous years: ORT 214/DECO 250, Departments of Pediatric Dentistry and Orthodontics; ORT 208 - Growth and Development, Dept. of Orthodontics; annual lecture for the Third year class; 486E Cleft Palate/Craniofacial Elective lecture (until recently when other colleagues in the division have given these)


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UNC-CH School of Medicine, MEDI 226. Second year medical student genetics course (various lectures including in recent years: Introduction/Health Burden of Genetic Disease; Mendelian inheritance; Autosomal Dominant Disorders; Autosomal Recessive Disorders; X-linked Inheritance; Birth Defects/Non-traditional Patterns of Inheritance; Congenital Disorders of Morphogenesis; and small group discussion leader). Course Director 1989 – 1995 Inborn Errors of Morphogenesis, annual lecture, 2010-present Small group instructor

UNC-CH School of Medicine, first year medical student genetics course: small group instructor

Clinical Teaching

Seminars and grand rounds for various departments and divisions on UNC-CH medical campus each year (see listing in appendix).

UNC School of Medicine, PED 443. Fourth year medical student genetics elective.

Daily teaching of residents (mostly from Pediatrics, occasionally from other departments) who take one month electives on Genetics service.

Daily teaching of third year medical students - with general attending duties on Pediatric in-patient service, 1-2 months each year through 2001, when Pediatrics Dept. changed to a different format.

Current Topics in Medical and Human Genetics Seminar series (Genetics Case Conference and seminar), weekly, throughout the year, Thurs. 2:30-4:00 pm

Molecular Genetic Pathology Training Program – faculty member

Continuing Education Lectures, Seminars, and Conferences (See “Teaching Activities” appendix for educational contacts since 1985)

Grand Rounds presentations have been given at the following: Moses Cone Hospital in Greensboro; Raleigh Pediatricians at Wake or Rex Hospitals; High Point AHEC; Wilmington AHEC.

Faculty member for “Genetic Analysis of Complex Human Diseases” (formerly “Genetic Analysis Methods for Medical Researchers”) course, (1994 through 2005 at Duke University, Durham, NC.; also April 1996 at Boston MA; Sept., 1998, London, UK) (Partially funded by a grant from the National Institutes of Health National Center for Human Genome Research, HG 00026, PIs Drs. M.A. Pericak-Vance and J.L. Haines)

Program host for the quarterly meeting of the North Carolina Medical Genetics Association program once every 18 months through 1999.

Course and Program Directorships

Current Topics in Medical and Human Genetics. Thursday 2:30-4:00, Sept through June – Course Director 2006 – 2012; since 2013, these have been Thursdays 3:00-4:00pm, weekly

PED 443, Genetics elective for fourth year UNC-CH medical students through 2004.

MEDI 226, Medical Genetics course for second year UNC-CH medical students, course director, 1989 – 1995


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UNC-CH Medical Genetics Residency Director, 1997 – 2001

UNC-CH Medical Genetics Training, accredited by the American Board of Medical Genetics, continuously since 1991, for Clinical Genetics, Clinical Cytogenetics, Ph.D. Medical Genetics, Clinical Biochemical Genetics, Clinical Molecular Genetics, and Genetic Counseling Training Site - Program Director, 1990 - 2009.

Attending on Clinical Service activities

Pediatric Genetics and Metabolism consultation service: Six months each year

Outpatient Pediatric Genetics and Metabolism clinic: - one full day per week (Wednesday) - the first Thursday morning of each month, throughout the year – through 2010.

Satellite Genetics Clinics (formerely Greensboro, Fayetteville, Lumberton, and Rockingham) – through ~~ 2000. Originally clinics also included Jacksonville, Charlotte, and Asheville sites. Through 2011: Rex Hospital clinic the 3rd Tuesday of each month

One to two months each year on the general Pediatric in-patient service, 1975 - 2000.

Graduate Supervision, Committees

Member, PhD Committee for Heather Baudet, UNC-CH Dept. of Cell and Developmental Biology (2004-2005)

Member, PhD Committee for Laurel Estabrooks Pennell, UNC-CH Genetics Curriculum (1987-91)

Member, PhD Committee for Uta B. Schambra, UNC-CH Department of Anatomy (1985 - 1988)

Other Supervision

Postdoctoral Fellows and Medical Genetics Residents

Lucas Bronicki, PhD, Postdoctoral Fellow at the Greenwood Genetic Center, Greenwood SC, 2014; mentor for his first publication

Robert J. Lipinski, PhD, Postdoctoral Fellow in the UNC-CH Department of Cell and Developmental Biology, 2010-2013; member of his K99/R00 committee and mentor in the areas of human malformations, embryology, & teratology

Heather G. Baudet, MD, PhD, 2009-11, Medical Genetics Resident

Jennifer Humberson, MD, 2007-2009, Medical Genetics Resident

Kandamurugu Manickam, MD, 2006-2008, Medical Genetics Resident

Jane Fan, MD, 2004-2006, Medical Genetics Resident

Alice Basinger, MD, PhD, 2003-2005, Medical Genetics Resident

Kent D. McKelvey, 2001-2003, Medical Genetics Resident

Philippa Charlton, M.D., 1994-96, Medical Genetics Resident

Pamela J. Reitnauer, M.D., Ph.D., 1994-97, Medical Genetics Resident

Ruth Heim, Ph.D., 1992-4, Medical Genetics Fellow

Theonia K. Boyd, M.D., 1991-1992, Pathology Resident


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Laurel Estabrooks, PhD, 1987-91, Cytogenetics Fellow

Patricia A. Friedman, M.D., 1986-1989, Medical Genetics Fellow

Ave M. Lachiewicz, M.D., 1984-1985, Medical Genetics Fellow

Eugene R. Soares, M.D., Ph.D., 1982-1983, Medical Genetics Fellow

Gail E. Herman, M.D., Ph.D., 1981-1982, Medical Genetics Fellow

M. Chrystie Timmons, M.D., 1979-1981, Medical Genetics Fellow

Stephen G. Kahler, MD, 1977-1980, Medical Genetics Fellow

William G. Wilson, MD, 1976-1979, Medical Genetics Fellow


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Grants Funded (updated Aug 2014)

ACTIVE

1-U01-DD001036-01(Olshan) 8/1/13-7/31/18 0.47 calendar

Centers for Disease Control $264,783

North Carolina Birth Defects Study To Evaluate Pregnancy Exposures (NC BD-STEPS)

The purpose of BD-STEPS is to identify modifiable maternal exposures in early pregnancy that may increase the risk for having a pregnancy affected by certain major, structural birth defects.

Role: Investigator

5-U01-DD000488-01-05 (Olshan) 12/1/08-8/30/14 1.18 calendar

Centers for Disease Control $438,105 (NCE)

The North Carolina Center for Birth Defects Research and Prevention

The NCCBDRP conducts research aimed at understanding the environmental and genetic causes of birth defects.

Role: Investigator

26821 (Powell) 6/1/14-5/31/15 7.65 calendar

NC-DHHS/DPH $781,000

Genetic Services Contract

The purpose of this contract is to provide high level genetic services and cytogenetic laboratory services (screening, consultation, evaluation, diagnosis and treatment) for children and their families.

Role: Investigator

5-RO1-ES020619-01-04 (Herring) 8/24/11-5/31/16 0.47 calendar

NIH/NIEHS $264,926

Bayesian Methods for High-Dimensional Epidemiologic Data

The purpose of this project is to develop novel statistical techniques for nonparametric Bayes analysis of high-dimensional covariate data, directly motivated by the largest population-based study ever conducted on the causes of birth defects.

Role: Investigator

5-U01-DD000696-04-05 (Strauss) 9/30/10-9/29/14 0.59 calendar


The North Carolina Cleft Outcomes Study


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The goal of this study is to examine patterns of short and long-term health outcomes, health care use, and costs among children with and without orofacial clefts (OFC) in order to identify new opportunities for intervention to improve educational, psychological/behavioral, and surgical outcomes for children with OFC

Role: Investigator

5-UO1-HG006487-01-03 (Evans) 12/05/11-11/30/15 0.35 calendar

National Human Genome Research Institute $1,273,556

NC GENES: North Carolina Genomic Evaluation by NextGen Exome Sequencing

The goal of this project is to outline a highly inter-disciplinary approach to identifying, confronting and overcoming the major challenges which must be met in order to implement deep sequencing technology in clinical medicine.

Role: Investigator

PENDING

None.

OVERLAP

None.

Previous

Completed Research Support within past 3 years

5-U01-DD000488-01-05 (Olshan) 12/1/08-11/30/13 1.20 Calendar


The North Carolina Center for Birth Defects Research and Prevention

The NCCBDRP conducts research aimed at understanding the environmental and genetic causes of birth defects.

Role: Investigator

26821 (Powell) 6/1/12-5/31/13 7.02 Calendar

NC-DHHS/DPH $781,000

Genetic Services Contract

The purpose of this contract is to provide high level genetic services and cytogenetic laboratory services (screening, consultation, evaluation, diagnosis and treatment) for children and their families.

Role: Investigator


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5-U10-DD000184-05 (PI: Daniels) 9/30/06-6/29/11 1.2 calendar


North Carolina Center for Autism & Development Disabilities Research & Epidemiology

The focus of this project is to conduct a multi-site collaborative epidemiologic study to investigate risk and causal factors for Autism Spectrum Disorders (ASDs) and phenotypic subgroups of ASDs using a population-based case-cohort study design.

Role: Investigator

Other previous support

1-U01-DD000488-01 PI: A. Olshan 09/01/02-11/30/08

North Carolina Center for Birth Defects Research and Prevention

Conduct birth defects ascertainment in North Carolina, collaborate in The National Birth Defects Prevention Study (a national birth defects case-control study), and initiate North Carolina studies of birth defect etiology and prevention.

Co-investigator. Reviewed cases ascertained by the NCBDMP and decided their clinical eligibility. Classified all NBDPS cases of renal agenesis/hypoplasia. Participated in collaborative projects.

Project Number 5-41558. PI: Arthur S. Aylsworth, MD. Title: Medical Genetics Counseling Unit Source: North Carolina Department of Health and Human Services, Division of Public Health, Women’s and Children’s Health Section, Children and Youth Branch. Dates: 6/1/2006 - 5/31/2007 Total Amount: $781,000 Percent Effort and Role: 40%, PI [Comment: This has been continuously funded since 1970, and is renewable annually to provide core support for a comprehensive, academic clinical genetics program; ASA was PI from ~1977 through ~2007]

Project Number: 1-U01-DD000488-01 PI: A. Olshan Title: North Carolina Center for Birth Defects Research and Prevention Source: Centers for Disease Control Dates: 09/01/02-11/30/07 Percent Effort and Role: 10%, co-investigator

Project Number & PI: 1 RO1 HG02164-01 PI: Debra G. Skinner Title: Culture and Family Interpretations of Genetic Disorders Source: NIH/NHGRI Dates: 8/1/2000 – 7/30/2003 Total Direct Costs: $650,000 Percent Effort and Role: 8%, Investigator

Project Number & PI: T15 HG000026-13 (Speer, M, PI) Title: "Genetic Analysis Methods for Medical Researchers" Source: NIH/NHGRI


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Dates of Approved Project: 01/01/94-08/31/07 Annual direct costs: $102,043 Percent Effort and Role: Consultant Description: this grant helps support an annual course that attracts 35 students from around the world who are interested in learning about state-of-the-art approaches to human genetic analysis. Dr. Aylsworth serves as one of approximately 10 faculty-in-residence with lecture responsibilities and frequent interactions with students.

Project Number & PI: 98-94M (Arthur S. Aylsworth, PI) Title: Genetic Heterogeneity and Therapy Potential in Hypochondroplasia Source: Genentech Foundation for Growth and Development Dates of Approved Project: 5/1/99 - 4/31/04 Total Direct Costs: $272,727 Percent Effort and Role: 15%, PI

Project Number & PI: #4-FY97-0642; Arthur S. Aylsworth, M.D. Title: Scientific Research Meeting Grant Source: March of Dimes Dates: 7/1-12/31/97 Total Direct Costs: $5,000 Percent Effort and Role: PI

Project Num. & PI: 1 RO1 HG00643-01; James R. Sorenson, Ph. D., School of Public Health, UNC-CH Title: An Evaluation of Testing and Counseling for CF Carriers Source: National Center for Human Genome Research, National Institutes of Health Dates: 1992 - 1995 Total Direct Costs: $231,916 year 3 of 3 Percent Effort and Role: 5% effort, co-P.I.

North Carolina Department of Health, Environment and Natural Resources Grant, “Human Genetics: A Short Course for Teachers,” 1990, $7,350.

UNC-CH Task Force on Educational Applications in Medicine Mini-Grant (1989-90): “Dysmorphology Teaching Project;” $4,000.

North Carolina Biotechnology Center Grant to conduct workshops and develop curriculum in human genetics and biotechnology for secondary schools teachers; # 01-81-103, 1989-90; $17,000.

Kenan Leave, 7/1/82-6/30/83, The University Of North Carolina

University Research Council, Research Grant, 1979-1981. The University of North Carolina.

March of Dimes Genetic Counseling Grant, Medical Service Grant, The National Foundation-March of Dimes, P.I., 1/1/79-12/31/79


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Professional Service

Consultant

Little People of America, Inc.: Medical Consultant, 1983-present Medical Advisory Board, 1975 - 1983

Consensus Conference to develop standards of practice for the identification, diagnosis, evaluation, and treatment of patients with cleft palate and other craniofacial disorders. Sponsored by the American Cleft Palate-Craniofacial Association, Pittsburgh, PA, May, 1991.

North Carolina Council on Developmental Disabilities Fragile X Syndrome Task Force, 1988

Teaching Methodologies for Genetics in Dental Education, participant in workshop sponsored by The Society of Craniofacial Genetics, Denver, Colorado, February, 1979.

Other

Ad hoc manuscript reviews for Journal of Pediatrics, Journal of Developmental Medicine and Childhood Neurology, Cleft Palate Journal, Social Biology, Journal of Autism and Developmental Disorders, Dysmorphology and Clinical Genetics, New England Journal of Medicine, American Journal of Medical Genetics, Pediatrics, Teratology, Human Genetics, Archives of Internal Medicine, Human Molecular Genetics, Genetics in Medicine, Congenital Heart Disease, GeneReviews, Journal of Personalized Medicine, and the Data Sharing Committee of the National Birth Defects Prevention Study.

Ad hoc research grant reviews: - National Scientific Review Board of the Human Growth Foundation Research Grants Program (1976 to 1980) - The North Carolina Biotechnology Center (1988, 1990) - NIH Division of Research Grants - Special Emphasis Panel (ZRG2 BEM 3M), Nov-Dec, 1995.

Board of Directors, American Board of Medical Genetics, 1/1/2003 - 12/31/2008: - Accreditation committee, 2003-2008 (Chair 2005-2007 ); - Ad hoc grievance committee chair 2003; - Nominating committee member 2004; - Item writer and Assistant General Exam Book Chief, 2005; - Maintenance of Certification Clinical Exam Book Chief 2005-6; - General Examination Book Chief, 2007.

Co-chairman, 2007 David W. Smith Workshop on Morphogenesis and Malformations, King’s Mill Conference Center, Williamsburg, VA, August.

Co-chairman, 2002 David W. Smith Workshop on Morphogenesis and Malformations, Furman University, SC., August.

Co-chairman, 1997 David W. Smith Workshop on Morphogenesis and Malformations, Litchfield Conference Center, SC., August.

Co-chairman, 1992 David W. Smith Workshop on Morphogenesis and Malformations, Winston-Salem, NC, August


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Chairman, International Neurofibromatosis Clinical Care Symposium, Washington, DC., October, 1991

Chairman, National Neurofibromatosis Foundation Annual Clinical Care Symposium, October 21, 1990, Cincinnati, OH.

Chairman, Annual Clinical Care Symposium of the National Neurofibromatosis Foundation, Inc., November 15, 1989, Baltimore, MD.

Chairman, Conference on “Optic Gliomas in Neurofibromatosis,” May 3, 1989, New York, sponsored by the National Neurofibromatosis Foundation, Inc. (Proceedings published by the NNFF as “Conference series volume 2,” 1990).

Co-chairman, 1987 David W. Smith Workshop on Morphogenesis and Malformations, Greenville, S.C.

Co-chairman, 1982 David W. Smith Workshop on Morphogenesis and Malformations, Hickory Knob, S.C.

Committees

Academic

School of Medicine

Dept. of Pediatrics Full Professors committee - current

School of Medicine Post-Tenure Review Committee, 2008

Scientific Advisory Board - Institute for Human Genetics, 2003

Perinatal Center (Center for Maternal and Infant Health): - Steering Committee, 1999 - Clinical Research Committee, 1999 - Clinical Programs/Services Committee, 1999

Genetic Center Search Committee, 1999

UNC – Mental Retardation Research Center Steering Committee 1998 Director Search Committee 1998

Committee for Regular (5 year) Review of the Director of the Curriculum in Genetics and Molecular Biology; member, 1996.

Department of Pediatrics Committee on the Role of the General Ward Attending (1996)

Second year Medical Student Course Directors’ Committee, 1989-95.

Medical Genetics course (MEDI 226) committee

Ad hoc reviews for Committee on Promotion to the Rank of Associate Professor

Task Force on Birth Defects, 1990 - 1992

Ad Hoc Committee on Organization of Birth Defect Research Programs, 1990

Dean’s Committee on Genetics, 1989.

Department of Pediatrics Computer Committee, 1987 - 89


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Human/Medical Genetics Subcommittee of the Dean’s Advisory Committee, 1985 - 1986.

NCMH Holiday Card Project Committee, 1986 - 1993

Biological Sciences Research Center Director Search Committee, 1985

Dean’s Task Force on Human and Medical Genetics Related to Clinical Program Development, 1984 - 1985

UNC-CH

Carolina Fragile X Project, Advisory Board, 1993 - ~1995

Member, Staff Personnel Technical and Scientific Advisory Panel, 1977 - 79

State

North Carolina Neural Tube Defects Prevention Task Force, 1995 - Surveillance sub-committee member 1995 -

North Carolina Birth Defects Registry Advisory Board, 1994 -

Birth Defects Surveillance Work Group, 1992 - 4

North Carolina Medical Genetics Association Dysmorphology Committee, member 1990- chairman 1990 -1992

North Carolina Medical Genetics Association Planning and Advisory Committee, 1983 - 1988

Advisory Board, Human Genetics League of North Carolina, Inc., 1987-8

National and International

Steering Committee, David W. Smith Workshop on Morphogenesis and Malformations: Member, 1982 – present - Co-host of the meeting every 5 years 1982 through 2007.

- Ex-officio host for 2012 meeting, assisting new hosts.

Little People of America, Inc.: Medical Advisory Board, 1974 – 1983 Clinical Consultant 1983 - present

Board of Directors, the American Board of Medical Genetics, elected for 6 yr term, 1/1/2003 - 12/31/2008: - Accreditation committee, 2003-2008 (Chair 2005-2007 ); - General Examination Book Chief for 2007 exam. - Maintenance of Certification Clinical Book Chief 2005-6; - Item writer and Assistant General Exam Book Chief for 2005 examination cycle; - Nominating committee 2004; - Ad hoc grievance committee chair 2003;

Greenwood Genetic Center Scientific Advisory Board, 1999 – 2005

National Neurofibromatosis Foundation Clinical Care Advisory Board - Member 1988 – 2000 - Emeritus member 2000 - present

Education Committee, American College of Medical Genetics, 1993 – 1997


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Medical Issues Committee, National Neurofibromatosis Foundation, (formerly the Diagnostic Criteria, Screening and Management Committee until 1990): - Member 1987 - 1991. - Chairman 1988 - 1991.

Other Administrative Activities

UNC-CH Hospitals Neurocutaneous Disorders Clinic, Co-director 1989 – 2004

Documents

CURRICULUM VITAE Personal Information Education VITAE Personal Information ... Espiner EA, Mackenzie WG, Duker A, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, ... CURRICULUM