Forskning ved Københavns Universitet - Københavns Universitet

Niels Tommerup

Niels Tommerup

Professor,, Professor

Personal data

Name: Niels Tommerup

Nationality: Danish

Current position
Professor of Medical Genetics, Department of Cellular and Molecular Medicine, Univ. of Copenhagen (UCPH). Director of Wilhelm Johannsen Centre for Functional Genome Research, a Centre-of-Excellence established in 2001 by The Danish National Research Foundation. Deputy Head of Department of Cellular and Molecular Medicine (UCPH).

Education and Training
DMSc. in genetics, UCPH (1994). UCPH (1978).

Scientific Focus
Isolation of disease genes and dissection of chromosomal topological domains and genomic and nuclear organization by chromosomal translocations/inversions. Characterization of germline chromothripsis. Integration of gene expression/function/biological pathways during normal and abnormal fetal development, with a special focus on cognitive comorbidity. Functional studies of non-coding RNA genes.

Professional Experience
1976-77: Scholarship. Dept. of Biochemistry. 1978-89: Junior doctor, research assistant and senior doctor, J.F. Kennedy Institute, Glostrup, Denmark. 1989-91: Consultant, Dept. of Medical Genetics, Ullevål University Hospital, Oslo, Norway. 1991-96:Seniorresearcher, Danish Center for Human Genome Research. Visiting scientist:1982: Biochemistry Dept., St. Mary's Hospital Medical School, London. 1986:Dept. of Pathology, Newcastle Mater Misericordia Hospital, Univer­sity of Newcastle, New South Wales, Australia. 1991-95: Dept. of Medical Genetics, Oslo University, Norway. 1996-:Full Professor of Medical Genetics, Dept. of Medical Biochemistry and Genetics (from 2007: Department of Cellular and Molecular Medicine), UCPH. 2001-:Director of Wilhelm Johannsen Centre for Functional Genome Research.

Academic Activities
Board Member of the Danish Society of Medical Genetics (1983-87; 1997-2001); Danish Centre for Human Genome Research (1994-96); European Society of Human Genetics (1995-99); European Cytogenetics Association (1997-99); HjerneForum (2008-2016); President: Danish Society of Reproduction and Fetal Development (1996-2001). Member (1996-2006) and Chair (2001-2006) of the International Standing Committee on Human Cytogenetic Nomenclature (ISCN).

Scientific Committee Member: European Society of Human Genetics (1992-93; 2000-2005). The Faculty of Health Sciences, UCPH (2003-2008). Dept. of Cellular and Molecular Medicine, UCPH (2008). Folkhälsan, Helsinki (2009-2015)

Editorial boards: Briefings in Functional Genomics; Clinical Genetics; Computational and Structural Biotechnology Journal; PeerJ; Australasian Med J.

Invited speaker in Armenia, Australia, Brazil, China, Czech Republic Denmark, Finland, France, FYR Macedonia, Germany, Greece, India, Italy, Japan, Norway, Poland, Portugal ,Spain, Sweden, The Netherlands, Turkey, UK, USA.

Opponent for PhD and medical theses in Denmark, Norway, Finland, Sweden, Holland. Supervisor of 26 ph.d. and 8

Organizer of International Summer School in Functional Genomics, Copenhagen, 2007, 2008. Wilhelm Johannsen Symposium 2002, 2011, Copenhagen. Co-organizer of UCPH Summer University Course in Human Genome Variation 2017.

Prices and Awards
Det Classenske Fideicommis Boglegat (1987). Iris Preuss's Mindelegat (1994).First Harold Klinger Memmorial Award Lecture, Atlanta, USA (2006).

International Collaboration
Coordinator of EU-concerted action Mendelian Cytogenetics Network (Biomed 2: 1997-2000). Coordinator of International Breakpoint Mapping Consortium (2014-), involving >150 diagnostic cytogenetic laboratories from >50 countries/6 continents.

329 published/accepted peer reviewed publications, including papers in Nature, Cell, Nature Genetics, Nature Biotechnology, New England Journal Medicine, Lancet. >21,000 citations -- h-index: 67 -- i10-index: 220 -- h-index since 2012: 41-- i10-index since 2012: 125 (

  • Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007;85:1057-69. (176 citations).
  • Silahtaroglu AN, Nolting D, Dyrskjøt L, Berezikov E, Møller M, Tommerup N, Kauppinen S. Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification. Nat Protoc. 2007;2:2520-8. (186 citations).

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