C. Verellen‐Dumoulin

A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)

Barbera Veldhuisen, Jasper J. Saris, Simone de Haij et al. · The American Journal of Human Genetics · 1997 · 107 citations · Full text

Medicine, Genetics, Molecular Genetics +13

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Bernard Grisart, Lionel Willatt, Anne Destrèe et al. · Journal of Medical Genetics · 2009 · 95 citations

Life Sciences, Genetics, Molecular Genetics +17

Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2

Yves Pirson, N. Lannoy, Dorien J.M. Peters et al. · Hepatology · 1996 · 82 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

Isabelle Maystadt, Mohammed Zarhrate, P. Landrieu et al. · Human Mutation · 2004 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

<i>IRF6</i> Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

Laurence Desmyter, Nicole Revençu, Odile Boute et al. · Molecular Syndromology · 2010 · 29 citations · Full text

Dentistry, Genetics, Molecular Genetics +16