Lionel Van Maldergem

Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13

Jocelyne Magré, Marc Délepine, Eliane Khallouf et al. · Nature Genetics · 2001 · 751 citations

Life Sciences, Genetics, Molecular Genetics +9

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Max A. Tischfield, Hagit Baris, Chen Wu et al. · Cell · 2010 · 602 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 559 citations · Full text

Medicine, Genetics, Otolaryngology +12

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Sabine Endele, Georg Rosenberger, Kirsten Geider et al. · Nature Genetics · 2010 · 509 citations

Life Sciences, Genetics, Neuroscience +16

Genome-Wide Scan for Autism Susceptibility Genes

Anne Philippe, María Martínez, M Guilloud-Bataille et al. · Human Molecular Genetics · 1999 · 476 citations

Life Sciences, Genetics, Molecular Genetics +17