Sylvie Odent

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Xavier H. Jaglin, Karine Poirier, Yoann Saillour et al. · Nature Genetics · 2009 · 372 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Katarina Pelin, Pirta Hilpelä, Kati Donner et al. · Proceedings of the National Academy of Sciences · 1999 · 332 citations

Medicine, Genetics, Molecular Genetics +11

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica E. Davis et al. · Nature Genetics · 2006 · 286 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Comparison of Clinical Presentations and Outcomes Between Patients With <i>TGFBR2</i> and <i>FBN1</i> Mutations in Marfan Syndrome and Related Disorders

David Attias, Chantal Stheneur, Carine Roy et al. · Circulation · 2009 · 238 citations · Full text

Medicine, Cardiology, Genetics +16

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

Karine Poirier, David A. Keays, Fiona Francis et al. · Human Mutation · 2007 · 236 citations

Life Sciences, Genetics, Neuroscience +15