Concepedia
Statistics
Publications
48
Citations
2.3K
H-Index
27
Active since
2008
Affiliations
Inserm(Current)
Assistance Publique – Hôpitaux de Paris
Université Paris Cité
Centre National de la Recherche Scientifique
Centre Hospitalier Universitaire de Rennes
Chloé Quēlin is an author at Inserm specializing in genetics, medical genetics, and life sciences.
Publications per year
2008–2023
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 · 371 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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 · 129 citations
Life Sciences, Genetics, Molecular Genetics +16
New insights into genotype–phenotype correlation for GLI3 mutations
Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli et al. · European Journal of Human Genetics · 2014 · 122 citations · Full text
Life Sciences, Genetics, Molecular Genetics +11
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 · 119 citations · Full text
Medicine, Genetics, Molecular Genetics +15
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 · 110 citations · Full text
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