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

Marion Delous, Lekbir Baala, Rémi Salomon, +34

Nature Genetics

Cerebello-oculo-renal SyndromeCiliary Gene Rpgrip1lDevelopmental BiologyGenetic DisorderMeckel Syndrome +7

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

S. Hadj‐Rabia, Lekbir Baala, P. Vabres, +8

Gastroenterology

Claudin-1 Gene MutationsGeneticsPathogenesisNeonatal Sclerosing CholangitisPathology +4

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

Lekbir Baala, Sophie Audollent, Jelena Martinović, +32

The American Journal of Human Genetics

Mendelian DisorderDisease MechanismGenetic DisorderMeckel SyndromeGenetics +5

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

Lekbir Baala, Stéphane Romano, Rana Khaddour, +18

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderJoubert SyndromeMedicineGenetics +7

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Lekbir Baala, Sylvain Briault, Heather Etchevers, +12

Nature Genetics

Transcriptional RegulationDevelopmental BiologyEpendymaGene RegulationHomozygous Silencing +7

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

Élodie Bal, Lekbir Baala, Céline Cluzeau, +8

Human Mutation

Spectrum of<i>MKS1</i>and<i>MKS3</i>mutations in Meckel syndrome: a genotype-phenotype correlation

Rana Khaddour, Ursula M. Smith, Lekbir Baala, +29

Human Mutation

Spectrum of<i>HLXB9</i>gene mutations in Currarino syndrome and genotype-phenotype correlation

Célia Cretolle, Anna Pelet, Damien Sanlaville, +8

Human Mutation

Developmental AnomalyTranscriptional RegulationDevelopmental BiologyMendelian DisorderGenetic Disorder +11

Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28

Lekbir Baala, S. Hadj‐Rabia, Dominique Hamel‐Teillac, +10

Journal of Investigative Dermatology

Chromosome DynamicsMendelian DisorderCytogeneticsMedicineGenetics +7

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report

Siham Chafai-Elalaoui, Matthias Chalon, Nadia Elkhartoufi, +5

Journal of Medical Case Reports