Nicole Van Regemorter

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

Sonia Abdelhak, Vasiliki Kalatzis, Roland Heilig et al. · Nature Genetics · 1997 · 678 citations

Biology, Developmental Biology, Novel Gene Family +9

Borate transporter <i>SLC4A11</i> mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Julie Désir, Graciela Moya, Orit Reish et al. · Journal of Medical Genetics · 2007 · 163 citations · Full text

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

Ali Benomar, Luc Krols, Giovanni Stévanin et al. · Nature Genetics · 1995 · 159 citations

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +6

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Frauke Coppieters, Ingele Casteels, Françoise Meire et al. · Human Mutation · 2010 · 146 citations · Full text

Should determination of the karyotype be systematic for all malformations detected by obstetrical ultrasound?

Melanie Staebler, Catherine Donner, Nicole Van Regemorter et al. · Prenatal Diagnosis · 2005 · 119 citations