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 · 679 citations

Medicine, Genetics, Molecular Genetics +14

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 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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 · 160 citations

Life Sciences, Genetics, Molecular Genetics +12

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

Life Sciences, Genetics, Molecular Genetics +14

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 · 120 citations

Medicine, Genetics, Obstetrics +17