Niels Tommerup

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Zeynep TumerClinical Professor, Applied Human Genetics, Kennedy CenterCorreu electrònic verificat a regionh.dk
Mads BakUniversity of CopenhagenCorreu electrònic verificat a regionh.dk
Asli SilahtarogluAssociate Professor,Correu electrònic verificat a SUND.KU.DK
Rikke S MøllerProfessor, Danish Epilepsy CentreCorreu electrònic verificat a filadelfia.dk
Vera KalscheuerMax Planck Institute for Molecular GeneticsCorreu electrònic verificat a molgen.mpg.de
Hans EibergKøbenhavns universitetCorreu electrònic verificat a sund.ku.dk
Henrik VissingCEOCorreu electrònic verificat a artscience.dk
Jutta Wirth, Dr. rer. nat.Wageningen University & Research, BiobioseminarsCorreu electrònic verificat a wur.nl
Mana M MehrjouyMehrjouy MMCorreu electrònic verificat a sund.ku.dk
Shahid Mahmood BaigDean Life Sciences Health Services Academy (HSA), Ministry of Health Services, Islamabad, PakistanCorreu electrònic verificat a hsa.edu.pk
Søren BrunakProfessor of Disease Systems Biology, University of CopenhagenCorreu electrònic verificat a cpr.ku.dk
Lars HansenUniversity of CopenhagenCorreu electrònic verificat a sund.ku.dk
Sakari KauppinenProfessor, Center for RNA Medicine, Aalborg UniversityCorreu electrònic verificat a dcm.aau.dk
Stefan MundlosInstitut für Medizinische Genetik und Humangenetik, CharitéCorreu electrònic verificat a molgen.mpg.de
Peder MadsenAarhus UniversityCorreu electrònic verificat a biomed.au.dk
Hans Gerd NothwangProfessor für Neurogenetik Universität OldenburgCorreu electrònic verificat a uni-oldenburg.de
Yves MoreauUniversity of LeuvenCorreu electrònic verificat a esat.kuleuven.be
Juri RappsilberTU Berlin and University of EdinburghCorreu electrònic verificat a tu-berlin.de
Gertjan van OmmenProfessor in Human Genetics, Leiden University Medical CentreCorreu electrònic verificat a lumc.nl
Søren MoestrupUniversity of AarhusCorreu electrònic verificat a health.sdu.dk

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Niels Tommerup

Professor in Medical Genetics, University of Copenhagen

Correu electrònic verificat a sund.ku.dk - Pàgina d'inici

Genetics Genomics Chromosomes


Títol Ordena per cites Ordena per any Ordena per títol	Citada per Citada per	Any
ISCN 2005: an international system for human cytogenetic nomenclature (2005): recommendations of the International Standing Committee on Human Cytogenetic Nomenclature LG Shaffer, N Tommerup Karger Medical and Scientific Publishers, 2005	2398	2005
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 T Wagner, J Wirth, J Meyer, B Zabel, M Held, J Zimmer, J Pasantes, ... Cell 79 (6), 1111-1120, 1994	1822	1994
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP F Petrif, RH Giles, HG Dauwerse, JJ Saris, RCM Hennekam, M Masuno, ... Nature 376 (6538), 348-351, 1995	1513	1995
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene GL Xu, TH Bestor, D Bourc'his, CL Hsieh, N Tommerup, M Bugge, ... Nature 402 (6758), 187-191, 1999	1481	1999
A human phenome-interactome network of protein complexes implicated in genetic disorders K Lage, EO Karlberg, ZM Størling, PI Olason, AG Pedersen, O Rigina, ... Nature biotechnology 25 (3), 309-316, 2007	1078	2007
Ancient human genome sequence of an extinct Palaeo-Eskimo M Rasmussen, Y Li, S Lindgreen, JS Pedersen, A Albrechtsen, I Moltke, ... Nature 463 (7282), 757-762, 2010	1032	2010
BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression DE Jensen, M Proctor, ST Marquis, HP Gardner, SI Ha, LA Chodosh, ... Oncogene 16 (9), 1097-1112, 1998	909	1998
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein J Chelly, Z Tümer, T Tønnesen, A Petterson, Y Ishikawa-Brush, ... Nature genetics 3 (1), 14-19, 1993	873	1993
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation F Rousseau, D Heitz, V Biancalana, S Blumenfeld, C Kretz, J Boué, ... New England Journal of Medicine 325 (24), 1673-1681, 1991	755	1991
JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells D Pasini, PAC Cloos, J Walfridsson, L Olsson, JP Bukowski, JV Johansen, ... Nature 464 (7286), 306-310, 2010	648	2010
MicroRNA expression in the adult mouse central nervous system M Bak, A Silahtaroglu, M Møller, M Christensen, MF Rath, B Skryabin, ... Rna 14 (3), 432-444, 2008	599	2008
Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography CM Petersen, MS Nielsen, A Nykjær, L Jacobsen, N Tommerup, ... Journal of Biological Chemistry 272 (6), 3599-3605, 1997	509	1997
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region JS Sutcliffe, M Nakao, S Christian, KH Örstavik, N Tommerup, ... Nature genetics 8 (1), 52-58, 1994	488	1994
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome MV Bell, MC Hirst, Y Nakahori, RN MacKinnon, A Roche, TJ Flint, ... Cell 64 (4), 861-866, 1991	464	1991
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation VM Kalscheuer, J Tao, A Donnelly, G Hollway, E Schwinger, S Kübart, ... The American Journal of Human Genetics 72 (6), 1401-1411, 2003	390	2003
Molecular characterization of a novel human hybrid-type receptor that binds the α2-macroglobulin receptor-associated protein L Jacobsen, P Madsen, SK Moestrup, AH Lund, N Tommerup, A Nykjær, ... Journal of Biological Chemistry 271 (49), 31379-31383, 1996	311	1996
The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015	307	2015
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy HC Mefford, S Clauin, AJ Sharp, RS Moller, R Ullmann, R Kapur, D Pinkel, ... The American Journal of Human Genetics 81 (5), 1057-1069, 2007	301	2007
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency MH Berryer, FF Hamdan, LL Klitten, RS Møller, L Carmant, ... Human mutation 34 (2), 385-394, 2013	291	2013
Single-molecule denaturation mapping of DNA in nanofluidic channels W Reisner, NB Larsen, A Silahtaroglu, A Kristensen, N Tommerup, ... Proceedings of the National Academy of Sciences 107 (30), 13294-13299, 2010	282	2010

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