Gertjan van Ommen

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Peter A.C. 't HoenProfessor Bioinformatics, Centre for Molecular and Biomolecular Informatics, Radboudumc NijmegenVerified email at radboudumc.nl
Peter PearsonVisiting Professor Human Genetics, Dept Genetics and Evolutionary Biology, University of Sao PauloVerified email at ib.usp.br
Marten HofkerProfessor of Molecular Genetics, UMCG, Groningen University, The NetherlandsVerified email at umcg.nl
Silvère van der MaarelProfessor of Medical Epigenetics, Head of Department, Human Genetics, Leiden University MedicalVerified email at lumc.nl
Martin C WapenaarVerified email at umcg.nl
Cisca Wijmenga, PhDERC advanced investigator; Professor of Human Genetics, Dept Genetics (MGE), UMCG, Groningen, theVerified email at umcg.nl
P. Eline SlagboomProfessor Molecular Epidemiology, Leiden University Medical CenterVerified email at lumc.nl
Antoon MoormanDepartment of Medical Biology, AMC, AmsterdamVerified email at amsterdamumc.nl
Rachel H. GilesUniversity Medical Center UtrechtVerified email at umcutrecht.nl
Jan C. OosterwijkClinical Geneticist, MD, PhDVerified email at umcg.nl
Marian BeekmanAssistant Professor, Molecular Epidemiology, LUMCVerified email at lumc.nl
J van kriekenhoogleraar pathologie, UMC St RadboudVerified email at radboudumc.nl
Marjolein KriekLUMCVerified email at lumc.nl
Stefan WhiteWhiteFox Science ConsultingVerified email at whitefoxsc.com
Paul I W de BakkerVertex PharmaceuticalsVerified email at vrtx.com
Markus Perolaresearch professorVerified email at thl.fi
Morris SwertzFull Professor / Head of Genomics Coordination Center, Dept of Genetics, University MedicalVerified email at rug.nl
Vishna Devi NadarajahInternational Medical University, Leiden University Medical centreVerified email at imu.edu.my
Anthony P MonacoPresident, Tufts UniversityVerified email at tufts.edu
Niels TommerupProfessor in Medical Genetics, University of CopenhagenVerified email at sund.ku.dk

Gertjan van Ommen

Professor in Human Genetics, Leiden University Medical Centre

Verified email at lumc.nl

Genetics Genomics Duchenne Gene therapy Biobanking


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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome AJMH Verkerk, M Pieretti, JS Sutcliffe, YH Fu, DPA Kuhl, A Pizzuti, ... Cell 65 (5), 905-914, 1991	4302	1991
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index EK Speliotes, CJ Willer, SI Berndt, KL Monda, G Thorleifsson, AU Jackson, ... Nature genetics 42 (11), 937-948, 2010	3617	2010
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 RA Ophoff, GM Terwindt, MN Vergouwe, R van Eijk, PJ Oefner, ... Cell 87 (3), 543-552, 1996	2935	1996
Hundreds of variants clustered in genomic loci and biological pathways affect human height H Lango Allen, K Estrada, G Lettre, SI Berndt, MN Weedon, F Rivadeneira, ... Nature 467 (7317), 832-838, 2010	2342	2010
Transcriptome and genome sequencing uncovers functional variation in humans T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ... Nature 501 (7468), 506-511, 2013	2117	2013
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	1508	1995
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion M Koenig, AH Beggs, M Moyer, S Scherpf, K Heindrich, T Bettecken, ... American journal of human genetics 45 (4), 498, 1989	1277	1989
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution IM Heid, AU Jackson, JC Randall, TW Winkler, L Qi, V Steinthorsdottir, ... Nature genetics 42 (11), 949-960, 2010	1123	2010
Local dystrophin restoration with antisense oligonucleotide PRO051 JC Van Deutekom, AA Janson, IB Ginjaar, WS Frankhuizen, ... New England Journal of Medicine 357 (26), 2677-2686, 2007	1068	2007
Systemic administration of PRO051 in Duchenne's muscular dystrophy NM Goemans, M Tulinius, JT van den Akker, BE Burm, PF Ekhart, ... New England Journal of Medicine 364 (16), 1513-1522, 2011	913	2011
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading‐frame rule A Aartsma‐Rus, JCT Van Deutekom, IF Fokkema, GJB Van Ommen, ... Muscle & Nerve: Official Journal of the American Association of …, 2006	832	2006
A unifying genetic model for facioscapulohumeral muscular dystrophy RJLF Lemmers, PJ Van der Vliet, R Klooster, S Sacconi, P Camaño, ... Science 329 (5999), 1650-1653, 2010	787	2010
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms PAC 't Hoen, Y Ariyurek, HH Thygesen, E Vreugdenhil, RHAM Vossen, ... Nucleic acids research 36 (21), e141-e141, 2008	784	2008
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy C Wijmenga, JE Hewitt, LA Sandkuijl, LN Clark, TJ Wright, HG Dauwerse, ... Nature genetics 2 (1), 26-30, 1992	768	1992
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles CEG Bruder, A Piotrowski, AACJ Gijsbers, R Andersson, S Erickson, ... The American Journal of Human Genetics 82 (3), 763-771, 2008	737	2008
Whole-genome sequence variation, population structure and demographic history of the Dutch population Nature genetics 46 (8), 818-825, 2014	731	2014
Theoretic applicability of antisense‐mediated exon skipping for Duchenne muscular dystrophy mutations A Aartsma‐Rus, I Fokkema, J Verschuuren, I Ginjaar, J Van Deutekom, ... Human mutation 30 (3), 293-299, 2009	731	2009
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. JT Den Dunnen, PM Grootscholten, E Bakker, LA Blonden, HB Ginjaar, ... American journal of human genetics 45 (6), 835, 1989	695	1989
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit JCTV Deutekom, C Wljmenga, EAEV Tlenhoven, AM Gruter, JE Hewitt, ... Human molecular genetics 2 (12), 2037-2042, 1993	602	1993
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy LM Kunkel, co-authors Nature 322 (6074), 73-77, 1986	581	1986

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