Jenneke van den Ende

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe et al. · Nature Genetics · 2014 · 369 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetic Disorder +9

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

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer et al. · European Journal of Medical Genetics · 2009 · 215 citations

Developmental Biology, Genetic Disorder, Genetics +7

Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders

Annick Vogels, Jenneke van den Ende, Kathelijn Keymolen et al. · European Journal of Human Genetics · 2003 · 184 citations · Full text

Clinical Epidemiology, Pediatrics, Prader–willi Syndrome +4

A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene

Guy Van Camp, Rikkert L. Snoeckx, Nele Hilgert et al. · The American Journal of Human Genetics · 2006 · 181 citations · Full text

Stickler Syndrome Is, Autoimmune Disease, Mendelian Disorder +10