Férechté Encha‐Razavi

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous, Lekbir Baala, Rémi Salomon et al. · Nature Genetics · 2007 · 493 citations

Life Sciences, Genetics, Molecular Genetics +10

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jéléna Martinovic et al. · The American Journal of Human Genetics · 2007 · 282 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

Karine Poirier, Yoann Saillour, Nadia Bahi‐Buisson et al. · Human Molecular Genetics · 2010 · 266 citations · Full text

Life Sciences, Genetics, Neuroscience +17

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L. M. Coene et al. · Nature Genetics · 2011 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Phenotypic spectrum of CHARGE syndrome in fetuses with <i>CHD7</i> truncating mutations correlates with expression during human development

Damien Sanlaville, Heather Etchevers, Marie Gonzalès et al. · Journal of Medical Genetics · 2005 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +16