Chloé Quēlin

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Christel Depienne, Delphine Bouteiller, Boris Keren et al. · PLoS Genetics · 2009 · 368 citations · Full text

Mainly Affects Females, Dravet Syndrome, Mendelian Disorder +15

Twelve new patients with 13q deletion syndrome: Genotype–phenotype analyses in progress

Chloé Quēlin, Claude Bendavid, Christèle Dubourg et al. · European Journal of Medical Genetics · 2008 · 127 citations

Genetic Disorder, Genetics, Genetic Epidemiology +8

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli et al. · European Journal of Human Genetics · 2014 · 121 citations · Full text

Genetics, Genotype–phenotype Correlation, Molecular Genetics +3

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

Nicolas Chassaing, Alexandre Causse, Adeline Vigouroux et al. · Clinical Genetics · 2013 · 117 citations · Full text

Syndromic Am, Ocular Disease, Developmental Biology +14

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

Elouan Chérot, Boris Keren, Christèle Dubourg et al. · Clinical Genetics · 2017 · 103 citations · Full text

Neurological Disorder, Genetics, Education +19