Jacques C. Giltay

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

Albertien M. van Eerde, Xueping Fan, Fabiola Quintero‐Rivera et al. · The American Journal of Human Genetics · 2007 · 213 citations · Full text

Urinary Tract Anomalies, Urological Research, Urology +8

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Joris M. van Montfrans, Esther A R Hartman, Kees P. J. Braun et al. · Lara D. Veeken · 2016 · 144 citations · Full text

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

Deniz Kanber, Jacques C. Giltay, Dagmar Wieczorek et al. · European Journal of Human Genetics · 2008 · 134 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +14