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.
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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
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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
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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.
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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.
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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)
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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) .
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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:
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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/
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