Jelena Martinović

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 · 489 citations

Cerebello-oculo-renal Syndrome, Ciliary Gene Rpgrip1l, Developmental Biology +9

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 · 312 citations · Full text

Cell Lineage, Developmental Biology, Fgf20 Maintain +12

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

Lekbir Baala, Sophie Audollent, Jelena Martinović et al. · The American Journal of Human Genetics · 2007 · 280 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +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 · 255 citations · Full text

Genetic Disorder, Genetics, Short Rib-polydactyly Syndrome +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