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Gertjan van Ommen
Gertjan van Ommen
Professor in Human Genetics, Leiden University Medical Centre
Verifisert e-postadresse på lumc.nl
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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
40001991
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
33182010
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
27971996
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
21852010
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
18602013
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, 348-351, 1995
14231995
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
12411989
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
10432007
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
10242010
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
8842011
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
7762008
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
7291992
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
6862006
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
6802008
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
6712010
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
6691989
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Nature genetics 46 (8), 818-825, 2014
6522014
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
6392009
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
LM Kunkel, co-authors
Nature 322 (6074), 73-77, 1986
5681986
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
5561993
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Artikler 1–20