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Global Genes, Local Concerns

A research project financed by the University of Copenhagen´s 2016 programme for

excellent interdisciplinary research

Appendix A. List of Publications

Project Participants

PI: Professor Timo Minssen

Professor Klaus Lindgaard Høyer

Associate professor Aaro Tupasela

Professor Niels Tommerup

Professor Lars Allan Larsen, PhD

Prof. Dr. Shahid Mahmood Baig

Peter Jacky (PI) Northwest Permanente PC Emeritus

Catherine Lenz Schlechter, Certified Genetic Counselor & Research Associate

Assistant Professor Mads Bak

Muhammad Farooq

Malene Bøgehus Rasmussen

Manaossadat Mahdizadeh Mehrjouy

Professor Søren Tvorup Christensen,

PhDhttp://globalgenes.ku.dk/participants/profile/?id=112508&vis=medarbejder

Associate Professor Lotte Bang Pedersen, PhD

Professor Karsten Kristiansen, PhD

Professor Jun Wang, PhD

Maria Schrøder Holm

Søren Lek Johansen

Lillian Rasmussen

Maren Mönnich, PhD

Fabian Schmid, PhD

Kenneth Bødtker Schou, PhD

Rachita Yadav, PhD

Karen Koefoed

Louise Lindbæk

Stine Kjær Morthorst

Johanne Bay Mogensen

Caroline Becker Warzecha

Malene Rask Andersen

Simon Topp Christensen

Professor Jens Schovsbo

Associate professor Janne Rothmar Hermann

PhD fellow Berit Andersen Faber

PhD fellow Neethu Rajam

Professor Klemens Kappel

PhD Fellow Nana Cecilie Halmsted Kongsholm

Associate Professor Morten Ebbe Juul Nielsen

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Professor Peter Sandøe

Professor Jens Schovsbo

Project Collaborators

Dr. Shahid Mahmood Baig, Group Leader and Principal Scientist, Human

Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for

Biotechnology and Genetic Engineering, (NIBGE), Faisalabad, Pakistan

Peter Jacky, PhD, Director Emeritus, Cytogenetics/Molecular Genetics at Northwest

Permanente, P.C., Portland, OR, USA

D.Soc.Sc Aaro Tupasela, Finland

Alex Postma, Amsterdam Medical Center, The Netherlands

Jens Andersen, Univ. Southern Denmark, Odense, Denmark

Dominic P. Norris, MRC Mammalian Genetics Unit, Harwell Science and

Innovation Campus, Oxfordshire, United Kingdom

Published:

2013

Hoeyer, K, (2013). Commercialization of Tissue-Based Research: Time to Move Beyond the

Gift/Market Dichotomy. Biopreservation and Biobanking vol. 11 no. 6. (397-398).

Minssen T. & Schwartz, R. (2013). Standing on shaky ground- US patent-eligibility of isolated

DNA and genetic diagnostics after AMP v. USPTO – Part IV: Discussions & Conclusions.

Queen Mary Journal of Intellectual Property, Volume 3, Issue 2. (118-144). Edward Elgar.

Minssen T. & Schwartz, R. (2013). Myriad reloaded & ready for the next round? Queen Mary

Journal of Intellectual Property, Volume 3, Issue 1. (70-80). Edward Elgar.

2014

Andersen, T. A., Troelsen, K. de L. L. & Larsen, L. A. (2014). Of mice and men: molecular

genetics of congenital heart disease. Cell Mol Life Sci. 2014, 71(8):1327-5.

Goggolidou, P., Stevens, J. L., Agueci, F., Keynton, J., Wheway, G., Grimes, D. T., Patel, S.

H., Hilton, H., Morthorst, S. K., DiPaolo, A., Williams, D. J., Sanderson, J., Khoronenkova, S.

V., Powles-Glover, N., Ermakov, A., Esapa, C. T., Romero, R., Dianov, G. L., Briscoe, J.,

Johnson, C. A., Pedersen, L. B. & Norris, D. P. (2014). ATMIN is a transcriptional regulator

of both lung morphogenesis and ciliogenesis. Development (Cambridge), vol 14. (3966-3977).

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P. L. Jensen, M. L. Grøndahl, J. Beck, H. C. Petersen, L. Stroebech, S. T. Christensen & C. Y.

Andersen (2014) Proteomic analysis of bovine blastocoel fluid and blastocyst cells. Systems

Biology in Reproductive Medicine 60(3): 127-135.

Koefoed, K., Veland, I. R., Pedersen, L. B., Larsen, L. A. & Christensen, S. T. (2014). Cilia

and coordination of signaling networks during heart development. Organogenesis. 2014 Jan

1;10(1):108-25.

Kypri, E., Christodoulou, A., Maimaris, G., Lethan, M., Markaki, M., Lysandrou, C., Lederer,

C., Tavernarakis, N., Geimer, S., Pedersen, L. B. & Santama, N. (2014). The nucleotide-

binding proteins Nubp1 and Nubp2 are negative regulators of ciliogenesis' Cellular and

molecular life sciences: CMLS, vol 71, no. 3, pp. 517-538. DOI: 10.1007/s00018-013-1401-6.

Minssen, T. & Schovsbo, J. H. (2014). Legal aspects of biobanking as key issues for

personalized medicine & translational exploitation. Personalized Medicine, vol. 11, no. 5.

(497-508).

Minssen T. & Lundqvist B. (2014). The “opt out” and “opt-in” provisions in the Unified Patent

Court Agreement - Impact and strategies for European patent portfolios. Nordiskt Immateriellt

Rättsskydd (NIR), Vol. 2014, nr. 4. (340-357).

Minssen T. & Schovsbo, J. (2014). Legal aspects of biobanking as key issues for personalized

medicine & translational exploitation. Personalized Medicine, Vol. 11, Nr. 5. (497-508) Future

Medicine.

Minssen T. (2014). Book Review: Drexl, J., Lee, N. Pharmaceutical Innovation, Competition

and Patent Law: A Trilateral Perspective. Edward Elgar Publishing. European Competition

Law Review, Vol. 35, Nr. 4. (202-206).

Minssen, T. & Wested, J. (2014). Standardization, IPRs and Open Innovation in Synthetic

Biology. Social Science Research Network (SSRN), Working Paper.

Pedersen, L. B. & Akhmanova, A. (2014) Kif7 keeps cilia tips in shape. Nature Cell Biology,

vol 16, no. 7. (623-625).

Petersen, C. S., Riis, T. & Schovsbo, J. H. 2014 I : N I R. 4, s. 324-339, The Unified Patent

Court (UPC), Compulsory Licensing and Competition Law

Rajam, N. (2014) Sovereign trusteeship and multilateral protection of intellectual property

rights, Oxford Journal of Intellectual Property Law & Practice doi: 10.1093/jiplp/jpu222 .

Schou, K. B., Andersen, J. S. & Pedersen, L. B. (2014). A divergent calponin homology (NN–

CH) domain defines a novel family: implications for evolution of ciliary IFT complex B

proteins. Bioinformatics, vol. 30, no. 7. (899-902).

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Schou, K. B., Morthorst, S. K., Christensen, S. T. & Pedersen, L. B. (2014). Identification of

conserved, centrosome-targeting ASH domains in TRAPPII complex subunits and TRAPPC8.

Cilia vol. 3. (6).

Veland I. R., Lindbæk, L. & Christensen, S. T. (2014). Linking the primary cilium to cell

migration in tissue repair and brain development. BioScience vol. 64 no. 12. (1115-1125).

2015

Ballardini, R. M., Norrgård, M. & Minssen, T. (2015). Enforcing Patent Law in the Era of 3D

Printing. Journal of Intellectual Property Law & Practice, vol. 10, issue 11. (850-866). Oxford

University Press.

Benmerah, A., Durand, B., Giles, R. H., Harris, T., Kohl, L., Laclef, C., Meilhac, S. M.,

Mitchison, H. M., Pedersen, L. B., Roepman, R., Swoboda, P., Ueffing, M. & Bastin, P. (2015).

The more we know, the more we have to discover: an exciting future for understanding cilia

and ciliopathies. Cilia, vol 4, no. 5., 10.1186/s13630-015-0014-0.

Cañada, J. A., Tupasela, A. & Snell, K. (2015). Beyond and Within Public Engagement – A

Broadened Approach to Engagement in Biobanking. New Genetics and Society 34(4). BFI: 2.

Faber, B. (2015). Nordforsk: Legislation on biotechnology in the Nordic Countries 2015: The

Danish legislation.

Farooq, M., Fatima, A., Mang, Y., Hansen, L., Kjaer K.W., Baig, S. M., Larsen, L. A. &

Tommerup, N. J., Hum Genet. (2015). A novel splice site mutation in CEP135 is associated

with primary microcephaly in a Pakistani family. [Epub ahead of print]

Faber, B. A. , Legislation on biotechnology in the Nordic Countries - an overview 2015,

Soini, S. (ed.). Oslo: Norden Nord Forsk, Chapter in Book/Report Chapter (2015).

Minssen, T. & Norberg, A. (2015). The impact of Broccoli II & Tomatoes II on GMO’s and

Synthetic Biology: The grand finale of a juicy EPO tale? Biotechnology Law Report, Vol. 34,

Nr. 3. (81-98). Mary Ann Liebert Pub.

Minssen, T., Verlinden, M. & Huys, I. (2015). IPRs in biobanking - Risks and opportunities

for translational research. Intellectual Property Quarterly, Issue 2. (106- 130) Sweet &

Maxwell.

Minssen, T. & Schwartz, R. (2015) Life after Myriad and the Future of Biotech Patents &

Personalized Medicine. Intellectual Property Quarterly, Issue 3.(189-241). Sweet & Maxwell.

Minssen T., Rutz, B. & van Zimmeren, E. (2015). Six recommendations on Synthetic Biology

& Intellectual Property Rights. Biotechnology Journal, Vol. 10. (236-241). Wiley.

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Minssen T., Knapp B. & Deane C. et al. (2015). Ten simple rules for a successful cross-

disciplinary collaboration. PLoS Computational Biology, Vol. 11, Nr. 4. Public Library of

Science.

Minssen T. & Nordberg A. (2015), The evolution of the CJEU’s case law on stem cell patents:

Context, outcome and implications of Case C-364/13 International Stem Cell Corporation.

Nordiskt Immateriellt Rättsskydd (NIR), Issue 5. (493-503)

Nielsen, B. S., Malinda, R. R., Schmid, F. M., Pedersen, S. F., Christensen, S. T. & Pedersen,

L. B. (2015). PDGFRβ and oncogenic mutant PDGFRα D842V promote disassembly of

primary cilia through a PLCγ- and AURKA-dependent mechanism. Journal of Cell Science

128(19):3543-9.

Nygaard M. B., Almstrup, K., Lindbæk, L., Christensen, S. T. & Svingen, T. (2015). Cell

context-specific expression of primary cilia in the human testis and ciliary coordination of

Hedgehog signaling in mouse Leydig cells. Science Reports 5: 10364. doi:10.1038/srep10364.

Petersen, C. S., Schovsbo, J. H. & Riis, T. 2015 Transitions in European Patent Law :

Influences of the Unitary Patent Package. Ballardini, R. M., Norrgård, M. & Bruun, N. (red.).

New York / Alphen aan den Rijn: Kluwer Law International: The Unified Patent Court (UPC)

in Action: How Will the Design of the UPC Affect Patent Law?

Price, W. N. & Minssen, T. (2015). Will clinical trial data disclosure reduce incentives to

develop new uses of drugs? Nature Biotechnology 2015, Vol.33, Nr.7. (685 ff.).

B. H. Satir, E.Wyroba, L. Liu, M. Lethan, P. Satir & S. T. Christensen (2015) Evolutionary

implications of localization of the signaling scaffold protein Parafusin to both cilia and the

nucleus. Cell Biology International 39(2): 136–145.

Schou, K. B., Pedersen, L. B. & Christensen, S.T. (2015). Ins and outs of GPCR signaling in

primary cilia. EMBO Reports 2015 Sep;16(9):1099-113.

Schovsbo, J. H., Riis, T. & Petersen, C. S. 2015 I : I I C - International Review of Intellectual

Property and Competition Law. 46, 3, s. 271 274: The Unified Patent Court: Pros and Cons of

Specialization - Is There a Light at the End of the Tunnel (Vision)?

Tupasela, A. & Tamminen, S. (2015). Authentic, Original And Valuable - Stabilizing The

Genetic Identity In Non-Human And Human Populations In Finland. Studies In Ethnicity And

Nationalism 15(3). BFI: 1.

Tupasela, A. (2015). Tensions between Policy and Practice in Finnish Biobank Legislation.

Biopreservation and Biobanking 13(5). (379-381).

Tupasela, A., Snell, K. & Cañada, JA. (2015). Constructing Populations In Biobanking. Life

Sciences, Society and Policy 11(5). BFI: 1.

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Tupasela, A., Snell, K., & Cañada, J. A. (2015). Patients, business and the state – translating

health information into sustainable benefits - Policy brief for engagement practices in Iceland,

UK, Finland, Canada, Spain and the US. Helsinki: Tekes Review 322.

Vestergaard, M. L., Awan, A., Warzecha, C. B., Christensen, S. T. & Andersen, C. Y. (2015)

Immunofluorescence Microscopy and mRNA Analysis of Human Embryonic Stem Cells

(hESCs) Including Primary Cilia Associated Signaling Pathways. Human embryonic stem cell

protocols (vol. 1307): Methods in Molecular Biology. (123-140). Springer.

2016

Hoeyer, K (2016) Traveling questions: uncertainty and nonknowledge as vehicles of translation

in genetic research participation, New Genetics and Society, 35 (4): 351-371, DOI:

10.1080/14636778.2016.1245134

MR Andersen, M Farooq, K Koefoed, KW Kjaer, A Simony, ST Christensen, LA Larsen

(2016) Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis.

42 (12): E702–E707.

R Ghossoub, L Lindbæk, A Molla-Herman, A Schmitt, Christensen ST, A Benmerah (2016)

Chapter 3: Morphological and Functional Characterization of the Ciliary Pocket by Electron

and Fluorescence Microscopy. In: Methods in Molecular Biology: Cilia. 1454: 35-51.

Soini, S. (ed.), Kvale, H., Gudmundsdóttir, L. H., Stoll, J. & Faber, B. A., Legislation on

biotechnology in the Nordic Countries - an overview 2016 2016 Norden Nord Forsk. Chapter

in Book /Report chapter Published 2016

M.-L. Labour, M. Riffault, S. T. Christensen & D. A. Hoey (2016) TGFβ1 – induced

recruitment of human bone mesenchymal stem cells is mediated by the primary cilium in a

SMAD3-dependent manner. Scientific Reports 6: 35542.

Minssen, T. , Rutz B. & Van Zimmeren E. (2016), Standards, Data Exchange and Intellectual

Property Rights in Systems Biology, in: Biotechnology Journal, Vol. 11, Nr. 12, 2016, s. 1477-

1480.

Borup, Rasmus; Kaae, Susanne; Minssen, Timo; Traulsen, Janine Marie.Fighting: Falsified

Medicines with Paperwork – A Historic Review of Danish Legislation Governing Distribution

of Medicines. In: Journal of Pharmaceutical Policy and Practice, Vol. 30, No. 9, 06.10.2016,

p. 1-8.

Minssen, T & Schwartz, R, Separating sheep from goats: A European view on the patent

eligibility of biomedical diagnostic methods, Journal of Law and the Biosciences, Oxford

Uni.Press, pp. 1-10 (2016).

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Minssen T. & Nordberg A., A “ray of hope” for European stem cell patents or “out of the smog

into the fog”?: An analysis of recent European case law and how it compares to the US, IIC -

International Review of Intellectual Property and Competition Law. 47, 2, p. 138-177 (2016).

Verlinden, M, Minssen, T & Huys, (2016), 'Reconciling IPRs and openness in biobanking'

European Intellectual Property Review, vol 38, nr. 1 , s. 1-4.

A. Mourão, S. T. Christensen & E. Lorentzen (2016) The intraflagellar transport machinery in

ciliary signaling. Current Opinion in Structural Biology 41: 98-108.

Pedersen, L. B., Mogensen, J. B. & Christensen, S. T. (2016). Endocytic control of cellular

signaling at the primary cilium' Trends in Biochemical Sciences, vol 41, no. 9, pp. 784-797.

DOI: 10.1016/j.tibs.2016.06.002

Schmid, F., Christensen, S. T., Pedersen, L. B. (2016). Cilia and Flagella. Bradshaw, R. A. &

Stahl, P. D. (eds.). Encyclopedia of Cell Biology. (660-676). Academic Press.

Schovsbo, J, Constitutional Foundations and Constitutionalization of IP Law - A Tale of

Different Stories?, Zeitschrift für Geistiges Eigentum/Intellectual Property Law Journal (2016)

Tupasela, A. (2016) Genetic Romanticism - Constructing the Corpus in Finnish Folklore and

Rare Diseases. Configurations 24(2): 121-143.

Verdier, P., Morthorst, S. K. & Pedersen, LB (2016) Targeting of ASH domain-containing

proteins to the centrosome. in P Satir & S Tvorup Christensen (eds), Cilia. Springer, pp. 15-

33. Methods in Molecular Biology, vol. 1454, DOI: 10.1007/978-1-4939-3789-9_2.

2017

Christensen, S. T., Morthorst, S. K., Mogensen, J. B. & Pedersen, L. B. (2017) Primary cilia

and coordination of receptor tyrosine kinase (RTK) and transforming growth factor β (TGF-β)

signaling. Cold Spring Harbor Perspectives in Biology, vol 9, no. 6, a028167, pp. 125-142.

DOI: 10.1101/cshperspect.a028167

Hoeyer, K, A Tupasela, MB Rasmussen (2017) Ethics Policies and Ethics Work in Cross-

national Genetic Research and Data Sharing: Flows, Nonflows, and Overflows, Science,

Technology and Human Values, 42(3): 381-404, DOI: 10.1177/0162243916674321

Faber, B. A, Legislation on Biotechnology in the Nordic Countries - an overview 2017,

Legislation on biotechnology in the Nordic countries – an overview 2017. Soini, S. (ed.).

Nordic Council of Ministers, Chapter in Book/ Report chapter, Published 2017

Kongsholm, N. C. H. & Kappel, K. (2017). Is Consent Based on Trust Morally Inferior to

Consent Based on Information? Bioethics, 31(6): 432-442.

Kongsholm, N. C. H. & Hedinsdottir, K. (2017). Kan tillidsbaseret samtykke beskytte

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patientens autonomi? (Can trust-based consent protect patients’ autonomy?) Bibliotek for

Læger, 209(1): 32-35.

J. K. Marthin, E. M. Stevens, L. A. Larsen, S. T. Christensen & K. J. Nielsen (2017) Patient-

specific three-dimensional explant spheroids derived from human nasal airway epithelium: a

simple methodological approach for ex vivo studies of primary ciliary dyskinesia. Cilia 6:3.

Nordberg, A, Minssen, T, Holm, SH, Horst, M, Mortensen, K & Møller, BL 2017, Cutting

Edges and Weaving Threads in the Gene Editing (Я)evolution: Reconciling scientific progress

with Legal, Ethical, & Social concerns, completed and submitted to Journal of Law and the

Biosciences (published January 2018), available at: https://academic.oup.com/jlb/advance-

article/doi/10.1093/jlb/lsx043/4816224 .

Yu, H, Wested, J & Minssen, T. (2017), “Innovation and Intellectual Property Policies in

European Research Infrastructure Consortia: The Case of the European Spallation Source”,

Journal of Intellectual Property Law & Practice, 12 (5): 384-397 (Oxford University Press).

Pedersen, L. B. (2017). Tubulin transport in cilia: how many tubulin cargo-binding sites per

IFT particle? (retrospective on DOI 10.1002/bies.201400007)' BioEssays, vol 39, no. 1, 1 page.

DOI: 10.1002/bies.201600201

Riso, B., Tupasela, A., Vears, DF., Felzmann, H., Cockbain, J., Loi, M., Kongsholm, NCH.,

Zullo, S., Rakic, V. (2017) Ethical Sharing Of Health Data In Online Platforms – Which Values

Should Be Considered? Life Science, Society and Policy 13(1): 12.

Schou, K. B., Mogensen, J. B., Morthorst, S. K., Nielsen, B. S., Aleliunaite, A., Serra-Marques,

A., Fürstenberg, N., Saunier, S., Bizet, A. A., Veland, I. R., Akhmanova, A., Christensen, S.

T. & Pedersen, L. B. (2017) KIF13B establishes a CAV1-enriched microdomain at the ciliary

transition zone to promote Sonic hedgehog signalling.' Nature Communications, vol 8, 14177,

15 pages. DOI: 10.1038/ncomms14177

Tupasela, A. (2017) Populations As Brands In Medical Research – Placing Genes On The

Global Genetic Atlas. BioSocieties 12(1): 47-65.

Tupasela, A., Snell, K., & Cañada, JA. (2017) Rethinking Therapeutic Misconception In

Biobanking – Ambivalence Between Research And Treatment. Science & Technology Studies

30(1).

M. Vestergaard, S. J. Grubb, K. K. Rasmussen, Z. Anderson-Jenkins, K. Grunnet-Lauridsen,

K. Calloe, C. Clausen, S. T. Christensen, C. Y. Møllgård, K., Andersen (2017) Human

Embryonic Stem Cell derived Cardiomyocytes self-arrange with areas of different subtypes

during differentiation. Stem Cells and Development 26(21): 1566-1577.æ

2018

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Kongsholm, N. C. H., Lassen, J. & Sandøe, P. (forthcoming, 2018). “I didn’t have anything to

decide, I wanted to help my kids” – An interview-based study of consent procedures for

sampling human biological material for genetic research in rural Pakistan. AJOB Empirical

Bioethics

Nilsson, N & Minssen, T, 'Unlocking the full potential of Open Innovation in the Life Sciences

through a classification system', in Drug Discovery Today (published in January 2018),

available at: https://www.sciencedirect.com/science/article/pii/S1359644617303458 .

Schovsbo, JH, Klinge, UC & Minssen, T, 'Reap what you sow! - But what about SPC

squatting? (Under Review)' Journal of Intellectual Property Law & Practice, Oxford

University Press (published January 2018), available at: https://doi.org/10.1093/jiplp/jpx229 .

Mönnich, M., Borgeskov, L., Breslin, L., Jakobsen, L., Rogowski, M., Doganli, C., Schrøder,

J. M., Mogensen, J. B., Blinkenkjær, L., Harder, L. M., Lundberg, E., Geimer, S., Christensen,

S. T., Andersen, J. S., Larsen, L. A., Pedersen, L. B. (2018) CEP128 CEP128 localizes to the

subdistal appendages of the mother centriole and regulates TGF-BMP signaling at the primary

cilium” Cell Reports 22:2584-2592.

Nordfalk, F & K Hoeyer (in press) The rise and fall of an opt-out system, Scandinavian Journal

of Public Health, DOI: 10.1177/1403494817745189

Rosengren, T., Larsen, L. J., Pedersen, L. B., Christensen, S. T., Birk Møller, L. (2018) TSC1

and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms.

Cellular and Molecular Life Sciences Feb 2. doi: 10.1007/s00018-018-2761-8. [Epub ahead

of print]

Schmid, F., Schou, K. B., Vilhelm, M. J., Holm, M. S., Breslin, L., Farinelli, P., Larsen, L. A.,

Andersen, J. S., Pedersen, L. B. & Christensen, S. T. (2018) IFT20 promotes feedback

inhibition of ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases'

Journal of Cell Biology, 217(1):151-161. doi: 10.1083/jcb.201611050.

Schovsbo, J. H., Klinge, U. C. & Minssen, T. (2018). Reap what you sow! - But what about

SPC squatting? Journal of Intellectual Property Law & Practice

Sheikh, Z & K Hoeyer (in press) “That is why I have trust": unpacking what 'trust' means to

participants in international genetic research in Pakistan and Denmark, Medicine, Health Care

and Philosophy, DOI: 10.1007/s11019-017-9795-9

Kongsholm Halmsted, N. C., Christensen, S. T., Herrmann, J. R., Larsen, L. A.; Minssen, T.,

Pedersen, L. B., Rajam, N., Tommerup, N., Tupasela, A. M., Schovsbo, J. H. (2018)

Challenges for the sustainability of university-run biobanks. Biopreservation and Biobanking,

16 (4), 312-321.

Additional publications of the Niels Tommerup Group (since 2016):

2016

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289. Farooq M, Mang Y, Fatima A, Hansen L, Kjaer KW, Baig SM, Larsen LA, Tommerup N.

A novel splice site mutation in CEP135 is associated with primary microcephaly in a

Pakistani family. J Hum Genet. 2016;61:271-3.

290. Gardella EG, Becker F, Møller R, Schubert J, Lemke J, Larsen L, Eiberg H, Nothnagel

M, Thiele H, Altmüller J, Syrbe S, Lerche H, Merkenschlager A, Bast T, Steinhoff B,

Nürnberg P, Mang Y, Møller LB, Gellert P, Heron S, Dibbens L, Weckhuysen S, Dahl

HA, Biskup S, Tommerup N, Hjalgrim H, Beniczky S, Weber Y. Benign infantile seizures

and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016;79:428-36.

291. Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E,

Tommerup N, Tranebjærg L, Rendtorff ND. Phenotypic subregions within the split-

hand/foot malformation 1 locus. Hum Genet. 2016;135:345-57.

292. Nazaryan L, Bertelsen B, Bak M, Jønson L, Tommerup N, Hancks DC, Tümer Z. L1-

mediated retrotransposition and Alu/Alu homologous recombination driven germline

chromothripsis. Hum Mut. 2016;37:385-95.

293. Bak M, Boonen SE Dahl C, Dahl C, Hahnemann JMD, Mackay DJ, Tümer Z, Grønskov

K, Temple KI, Guldberg P, Tommerup N. Genome-wide DNA methylation analysis of

transient neonatal diabetes type 1 patients with mutations in ZFP57. BMC Med Genet.

2016;17:29.

294. Fryland T, Christensen JH, Pallesen J, Mattheisen M, Palmfeldt J, Bak M, Grove J,

Demontis D, Blechingberg J, Ooi HS, Nyegaard M, Hauberg ME, Tommerup N,

Gregersen N, Mors O, Corydon TJ, Nielsen AL, Børglum AD. Identification of the BRD1

interaction network and its impact on mental disorder risk. Genome Med. 2016;8:53.

295. Jennum PJ, Kornum BR, Issa NM, Gammeltoft S, Tommerup N, Morling N, Tümer Z,

Knudsen S. Monozygotic Twins Discordant for Narcolepsy Type 1 and Multiple Sclerosis.

Neuroimmun Neuroinflam. 2016;3:e249..

296. Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Pendziwiat M, Salmi M, Bache I, Bruneau

N, Fluss J, de Bellescize J, Scholly J, Møller RS, Tommerup N, Valenti-Hirsch MP,

Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas

M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DL, Mefford HC,

Neagu E, Huether R, Lu H-M, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J,

Helbig I, Sanlaville D, Hirsch E, Szepetowski P. Loss-of-function of the retinoid-related

nuclear receptor (RORB) gene and epilepsy. Eur J Hum Genet. 2016;24:1761-70.

297. Møller RS, Larsen LHG, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda M,

Farooq M, Nielsen JEK, Lavard L, Linnet K, Hao Q, Uldall P, Frangu M, Tommerup N,

Baig SM, Born PA, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Lana

Al-Zehhawi, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK,

Dahl HA. Gene panel testing in epileptic encephalopathies and familial epilepsies. Mol

Syndrom. 2016;7:210-9.

Page 11 of 18

298. Nazaryan-Petersen L, Tommerup N (2016). Chromothripsis and Human Genetic Disease.

In: eLS. John Wiley & Sons, Ltd: Chichester. DOI: 10.1002/9780470015902.a0024627.

2017

299. Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U,

Borggräfe I, Talvik I, Talvik T, Kluger G, Blichfeldt S, Hentzschel K, Jacobs-LeVan J,

Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers C, Larsen LHG, Vejzovic S,

Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, van Gassen KL, Dahl HA,

Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H,

Maljevic S. Mutations in GABRB3 cause a spectrum of epilepsy phenotypes from febrile

seizures to severe epileptic encephalopathies. Neurology. 2017;88:483-492.

300. Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Behjati F, Tanteles G,

Anastasiadou V, Tommerup N, Sismani C. Accurate breakpoint mapping in apparently

balanced translocation families with discordant phenotypes using whole genome mate-

pair sequencing. PLoS ONE. 2017 Jan 10;12(1):e0169935.

301. Seemann SE, Mirza AH, Hansen C, Bertelsen CHB, Christensen-Dalsgaard M,

Torarinsson E, Yao Z, Pociot F, Nielsen H, Tommerup N, Ruzzo WL, Gorodkin J. The

identification and functional annotation of RNA structures conserved in vertebrates.

Genome Res. 2017;27:1371-83.

302. Bugge M, Drachmann G, Kern P, Budtz-Jørgensen E, Eiberg H, Olsen B, Tommerup N,

Nielsen IM. Abdominal wall defects in Greenland 1989-2015. Birth Defects Res.

2017;109:836-842.

303. Fatima A, Farooq M, Abdullah U, Mustafa T, Muhammad I, Tariq M, Tommerup N, Baig

SM. Genome-wide supported risk variants in MIR137, CACNA1C, CSMD1, DRD2 and

GRM3 contribute to schizophrenia susceptibility in Pakistani population. Psychiatry

Investig. 2017;14:687-692.

304. Abdullah U, Farooq M, Fatima A, Touseef W, Sarwar Y, Nuri MMH, Tommerup N, Baig

SM. Homozygous Mutation in the NPHP3 gene causing Fetal Nephronophthisis.

Nephrology. 2017;22:818-20

305. Abdullah U, Farooq M, Mang Y, Bakhtiar SM, Fatima A, Hansen L, Kjaer KW, Lars

Allan Larsen LA, Baig SM, Tommerup N. A novel mutation in CDK5RAP2 gene causes

primary microcephaly with speech impairment and sparse eyebrows in a consanguineous

Pakistani family. Eur J Med Genet. 2017;60:627-630.

306. Luukkonen T, Mehrjouy M, Pöyhönen M, Anttonen A-K, Lahermo P, Ellonen P, Paulin

L, Tommerup N, Palotie A, Varilo T. Breakpoint mapping and haplotype analysis of

Page 12 of 18

translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular

phenotypes. Mol Genet Genomic Med. 2017 Nov 23. [Epub ahead of print].

307. Łopacińska-Jørgensen JM, Pedersen JN, Bak M, Mehrjouy MM, Sørensen KT, Østergaard

PF, Bilenberg B, Kristensen A, Taboryski RJ, Flyvbjerg H, Marie R, Tommerup N,

Silahtaroglu A. Enrichment of megabase-sized DNA molecules for single-molecule

optical mapping and next-generation sequencing. Sci Rep. 2017 Dec 20;7(1):17893.

2018

308. Mehrjoyu M, Fonseca ACDS, Ehmke N, Novelli A, Benedicenti F, Mencarelli MA,

Renieri A, Busa T, Missirian C, Hansen C, Abe KT, Speck-Martins CE, Vienna-Morgante

A, Tommerup N. Regulatory variants of FOXG1 in the context of its topological domain

organisation. Eur J Hum Genet. 2018;26:186-96.

309. Slamova Z, Nazaryan-Petersen L, Mehrjouy MM, Drabova J, Hancarova M, Marikova T,

Novotna D, Vlckova M, Vlckova Z, Bak M, Zemanova Z, Tommerup N, Sedlacek Z. Very

short DNA segments can be detected and handled by the repair machinery during germline

chromothriptic chromosome reassembly. Hum Mutat. 2018 Feb 6. doi:

10.1002/humu.23408. [Epub ahead of print]

310. Karstensen HG, Vestergaard M, Baaré WFC, Skimminge A, Djurhuus B, Ellefsen B,

Brüggemann N, Klausen C, Leffers AM, Tommerup N, Siebner HR. Congenital olfactory

impairment is linked to cortical changes in prefrontal and limbic brain regions. Brain

Imaging Behav. 2018 Feb 13. doi: 10.1007/s11682-017-9817-5. [Epub ahead of print]

311. Østergaard P, Lopacinska-Jørgensen J, Pedersen J, Tommerup N, Kristensen A, Flyvbjerg

H, Silahtaroglu A, Marie R, Taboryski R. Optical mapping of single-molecule human

DNA in disposable, mass-produced all-polymer devices. J Micromech Microeng.

Accepted.

Amicus briefs & court petitions:

2016

Minssen T. & Schwartz R., In The U.S. Supreme Court SEQUENOM v. ARIOSA

DIAGNOSTICS- On Petition For A Writ Of Certiorari To The U.S. Court Of Appeals For The

Federal Circuit: BRIEF OF TIMO MINSSEN & ROBERT M. SCHWARTZ WITH 10

EUROPEAN & AUSTRALIAN LAW PROFESSORS AS AMICI CURIAE, 20 April 2016,

available at: https://goo.gl/iD59nh

Page 13 of 18

Contributions to Monographs

2015

Minssen, T. & Kokoulina, O. (2015). More competition law-FRANDly IPR policies: A

solution to SSOs’problems of self-governance? Riis, T. (ed.). User Generated Law - Re-

constructing Intellectual Property Law in the Knowledge Society. Edward Elgar.

Minssen, T. & Wested, J. (2015). Standardization, IPRs & Open Innovation in Synthetic

Biology. Beldiman, D. (ed.). Innovation, Competition and Collaboration. (34-66). Edward

Elgar Publishing, U Design Law and 3D Printing: Finding the Right Balance in a New E-

Ecosystem

2016

Rajam, Neethu, Elberte V Latvia, To be or not to be question of Consent, Oxford Medical Law

Review,(Published online on Dec 27, 2016)

Schovsbo, J (2016). The Private Legal Governance of Domain Names, User Generated Law.

Reconstructing Intellectual Property Law in a Knowledge Society edited by Thomas Riis

(Edward Elgar).

Tupasela, A., & Liede, S. (2016) State Responsibility And Accountability In Managing Big

Data In Biobank Research - Tensions And Challenges In The Right Of Access To Data. Pp.

257-275, In Mittelstadt, B. and Floridi, L. (eds). Ethics of Biomedical Big Data. Oxford

University Publishing, Oxford.

Minssen, T. & Nilsson, D. (2016). 'The Industrial Application Requirement for Biotech

Inventions in Europe'. Rosén, J. (red.). European Intellectual Property Law: Critical Concepts

in Intellectual Property Law series. vol. 1. Edward Elgar Publishing, Incorporated,

Cheltenham, UK (forthcoming).

2017

Herrmann, J.R. (2017). The Human Embryo and Foetus. Den Exter, A. (ed.). European Health

Law. Maklu

Minssen, T & Schovsbo, JH 2017, "Big Data in the Health & Live Sciences: What are the

challenges for European Competition Law and where can they be found?", in Digitalisation

and Intellectual Property, Global Perspectives and Challenges for the Intellectual Property

System. A CEIPI-ICTSD Publication Series, nº 5, 2018.

Page 14 of 18

Minssen, T. & Nordberg, A., Rules as Legal tools: A Call for New Incentives and “Integrated

Strategies” in the Battle against Superbugs, in Mark Eccleston-Turner (ed.), Infectious

Diseases in the New Millennium: Legal and Ethical Challenges (submitted, accepted &

forthcoming in 2017/18).

Minssen, T & Mimler, M, “Patenting Bioprinting Technologies in the US and Europe– The 5th

element in the 3rd dimension”, in RM Ballardini, M Norrgård & J Partanen (red), 3D printing,

Intellectual Property and Innovation – Insights from Law and Technology (forthcoming in

2017, Wolters Kluwer).

Minssen, T. & Pierce J., Big Data and Intellectual Property Rights in the Health and Life

Sciences, Chapter 21 in "Big Data, Health Law, and Bioethics"- based on a symposium at

Harvard Law School (forthcoming in the summer 2017, Cambridge University Press 2017).

Minssen, T., “Patenting Human Genes in Europe- and how it compares to the US and

Australia”, Ch. 1.5, pp- 26-39, in: Research Handbook on IP and the Life Sciences. (Edward

Elgar 2017).

Nordberg, A. & Schovsbo, J. H. (2017). 3D Printing, Intellectual Property and Innovation:

Insights from Law and Technology. Ballardini, R. M., Norrgård, M. & Partanen, J. (red.). The

Hague : Wolters Kluwer Incorporated.

Rajam, Neethu, Nature Biotechnology, What the roll out of EU data legislation means for you,

35,712–713(2017) doi:10.1038/nbt.3928

Rajam, Neethu, “Biobank Related Research and Intellectual property Rights: Deconstructing

the Obscurity’, Oxford Journal of Intellectual Property Law & Practice, 2017)

Tupasela, A. (2017) Data-Sharing Politics and the Logics of Competition in Biobanking. Pp.

187-206, In Vincenzo Pavone and Joanna Goven (eds.) Bioeconomies: Life, Technology And

Capital In The 21st Century. Palgrave.

2018

Hoeyer, K., Tupasela, A. & Bøgehus Rasmussen, M. (2018) Big Data And The Ethics Of

Detail: The Role Of Ethics Work In The Making Of A Cross-National Research Infrastructure

For Genetic Research. In Timo Minssen, Jens Schovsbo & Janne Rothmar Herrmann (eds.).

Global Genes, Local Concerns: Legal, Ethical and Scientific Challenges in International

Biobanking. Edward Elgar. Forthcoming.

Ortega-Paíno, E., & Tupasela, A. (2018) Biobanks and Biobank Networks. In Timo Minssen,

Jens Schovsbo & Janne Rothmar Herrmann (eds.). Global Genes, Local Concerns: Legal,

Ethical and Scientific Challenges in International Biobanking. Edward Elgar. Forthcoming.

Page 15 of 18

Monographs

2013

Hoeyer, K. (2013). Exchanging Human Bodily Material: Rethinking Bodies and Markets.

Dordrecht: Springer.

2016

Adolphsen, C.; Madsen, H.B.; Birkeland, S.; Kristensen, K.; Herrmann, J.R. (2016)

International Encyclopedia of Law - Medical Law- Denmark..Kluwer Law

2018

Rajam, Neethu, Intellectual Property Rights and Publicly Funded Biobanks: Perspectives for

Industrial and Research Partnerships within Biobanks in Europe, PhD thesis, defended in

March 2018.

Under review, accepted & forthcoming:

Journal Articles

2016

Hoeyer, K. (2016) Biobanking: Ethical issues [82057] (in) International Encyclopedia of

Social and Behavioral Sciences, 2nd Edition (by) James D Wright (ed.). Oxford: Elsevier

Rajam, N. (2016) Strategizing a Game theory of trademark harmonization: Conflicts to

coexistence of use (under peer review)

2017

Schovsbo, J. H. (2017). ‘Mark my words’ - Trademarks and Fundamental Rights in the EU,

UC Irvine Law Review. (Accepteret/In press)

Nielsen, M. E. J., Kongsholm, N. C. H. & Schovsbo, J. H. (2017). Property and Human Genetic

Information, Journal of Community Genetics (pending revision)

Page 16 of 18

Kongsholm, NCH, Lassen, J, Sandøe, P “I didn’t have anything to decide, I wanted to help my

kids” – An interview-based study of consent procedures in sampling human biological material

for genetic research in rural Pakistan. AJOB Empirical Bioethics

Contributions to Monographs

2018

Hellstadius, Å. & Schovsbo, J. H. (2017). You told me, Right? - Free and Informed Consent in

European Patent Law. (Accepted) Global Genes, Local Concerns: Legal, Ethical and

Scientific Challenges in International Biobanking, Minssen, T., Rothmar Herrmann, J. &

Schovsbo, J. (red.). Edward Elgar (2018).

2018

Petersen, C. S. & Schovsbo, J. H. (2018). Decision-making in the Unified Patent Court:

Ensuring a balanced approach in Geiger C. [title to be announced], Edward Elgar.

Rajam, Neethu, On Trade secret law and Genetic research , Edward Elgar: Jens Schovsbo et

al. EU, Trade Secret Law (forthcoming 2018)

Rajam, Neethu, Revisiting the EU copyright Law in the age of biobanks and Synthetic Biology

(accepted EIPR, awaiting publication).

Jacob Sherkow & Timo Minssen, Genetic Data, Trade Secrets, and Public Research: Adaptive

Immunoreceptor Repertoire Projects, in Trade Secrets book project, (Jens Schovsbo, Timo

Minssen & Thomas Riis, ed.).

Timo Minssen, Tension at the Interface of Clinical Trials Data Transparency and Trade Secrets

protection, in Trade Secrets book project, (Jens Schovsbo, Timo Minssen & Thomas Riis, ed.).

Monographs

2018

Minssen T., Rothmar Herrmann J., Schovsbo J. (editors) , Global Genes, Local Concerns:

Legal, Ethical & Scientific Challenges in International Biobanking (forthcoming in late 2018,

Edward Elgar, ca. 500pp) .

Page 17 of 18

Minssen, T. (ed.), Nordberg, A. (ed.) & Wested, J. (ed.), Synthetic Biology and Gene Editing:

Legal Implications on a Social and Ethical Context (In preparation), forthcoming in late. 2018

(Edward Elgar Publishing, Incorporated).

Books & editorials

2016

Cilia: Methods and Protocols (2016) Satir, P. & Christensen, S. T. (Eds) Methods and

Molecular Biology series. Springer Protocols. Humana Press. ISBN 978-1-4939-3787-5.

2019

Global Genes, Local Concerns : Legal, Ethical and Scientific Challenges in International

Biobanking (2019) Minssen, T, Herrmann, J. R., Schovsbo, J. H. (Eds) Cheltenham : Edward

Elgar Publishing.

Interdisciplinary cross-faculty and other important papers related to Global Genes

submitted or forthcoming:

2018

Morten Ebbe Juul Nielsen, Nana Cecilie Halmsted Kongsholm, Jens Schovsbo, Property and

Human Genetic Information, submitted to Journal of Community Genetics in March 2018.’

Mehrjoyu M, Fonseca ACDS, Ehmke N, Novelli A, Benedicenti F, Mencarelli MA, Renieri A,

Busa T, Missirian C, Hansen C, Abe KT, Speck-Martins CE, Vienna-Morgante A, Tommerup

N. Regulatory variants of FOXG1 in the context of its topological domain organisation. Eur J

Hum Genet. 2018;26:186-96.

Halgren C, Nielsen NM, Nazaryan-Petersen L, Silahtaroglu A, Collins RL, Lowther C,

Kjaergaard S, Frisch M, Kirchhoff M, Brøndum-Nielsen K, Lind-Thomsen A, Mang Y, El-

Schich Z, Boring CA, Mehrjouy MM, Jensen PKA, Fagerberg C, Krogh LN, Hansen J,

Bryndorf T, Hansen C, Talkowski M, Bak M Tommerup N. Bache I. Risks and

recommendations in Prenatally Detected de novo Balanced Chromosomal Rearrangements

from Assessment of Long-Term Outcomes. Am J Hum Genet 2018.

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Extraordinary publications

Podcasts:

Page 18 of 18

14/12/2017

Podcast recording commissioned by the European Biopharmaceutical Industries Organization

(EBE). The interview was carried out, recorded and featured by the media company Vital

Tranformation.

The podcast is available here:

https://www.ebe-biopharma.eu/wp-content/uploads/2018/01/EBE_Open-Innovation-Podcast-

3.mp3

Webinars

Webinar series on Trips and the Life Sciences, see:http://jura.ku.dk/cebil/research/trips/

Including the following webinars:

27 April 2017: Perspectives on limitations to patentability

28 June 2017: Procedural aspects of compulsory licensing under TRIPS

29 November 2017: Bolar provisions – Recent developments and possible scenarios

18 January 2018: Data Exclusivities and TRIPS Art. 39.3

Blogs:

PI Timo Minssen is also a regular contributor on Harvard Law School's "Bill of Health" blog

at: http://blogs.harvard.edu/billofhealth/category/contributors/timo-minssen/