Jéléna Martinovic

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

FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

Hila Barak, Sung‐Ho Huh, Shuang Chen et al. · Developmental Cell · 2012 · 318 citations · Full text

Life Sciences, Developmental Biology, Nephrology +14

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

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau, Marie Goulet, David Geneviève et al. · The American Journal of Human Genetics · 2009 · 258 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

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