Catherine Ozilou

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

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

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

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Lekbir Baala, Stéphane Romano, Rana Khaddour et al. · The American Journal of Human Genetics · 2006 · 235 citations · Full text

Developmental Biology, Mendelian Disorder, Joubert Syndrome +9

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

Houda Karmous‐Benailly, Jelena Martinović, Marie-Claire Gübler et al. · The American Journal of Human Genetics · 2005 · 136 citations · Full text

Developmental Anomaly, Pediatrics, Antenatal Presentation