Ilse J. de Wijs

L1 retrotransposition can occur early in human embryonic development

José A. J. M. van den Hurk, Iwan C. Meij, Maria del Carmen Seleme et al. · Human Molecular Genetics · 2007 · 187 citations · Full text

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

Nike Stikkelbroeck, Lies H. Hoefsloot, Ilse J. de Wijs et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 170 citations · Full text

Specific Cluster, Mendelian Disorder, Congenital Adrenal Hyperplasia +14

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

Konstantinos Nikopoulos, Hanka Venselaar, Rob W.J. Collin et al. · Human Mutation · 2010 · 148 citations · Full text

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra et al. · European Journal of Human Genetics · 2016 · 143 citations · Full text

Bioinformatics, Engineering, Gene Panel +13

Duplication of the proteolipid protein gene is the major cause of Pelizaeus‐Merzbacher disease

Erik A. Sistermans, I.F.M. de Coo, Ilse J. de Wijs et al. · Neurology · 1998 · 142 citations