متابعة
Gertjan van Ommen
Gertjan van Ommen
Professor in Human Genetics, Leiden University Medical Centre
بريد إلكتروني تم التحقق منه على lumc.nl
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
42081991
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
35232010
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
29061996
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
23042010
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
20432013
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
14811995
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
12821989
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
10982010
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
10642007
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
9042011
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
7972008
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
7872006
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
7601992
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
7582010
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
7252008
Whole-genome sequence variation, population structure and demographic history of the Dutch population‏
Nature genetics 46 (8), 818-825, 2014‏
7112014
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
7022009
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
6891989
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
5871993
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy‏
LM Kunkel, co-authors‏
Nature 322 (6074), 73-77, 1986‏
5821986
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مقالات 1–20