Concepedia
Statistics
Publications
8
Citations
422
H-Index
Active since
2011
Affiliations
Inserm(Current)
Université Paris-Est Créteil
Assistance Publique – Hôpitaux de Paris
Université Paris Cité
Hôpital Armand-Trousseau
Asma Chaoui is an author at Inserm specializing in life sciences, genetic disorders, and genetics.
Publications per year
2011–2015
Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness
Véronique Pingault, Virginie Bodereau, Viviane Baral et al. · The American Journal of Human Genetics · 2013 · 197 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Identification and functional analysis of<i>SOX10</i>missense mutations in different subtypes of waardenburg syndrome
Asma Chaoui, Yuli Watanabe, Renaud Touraine et al. · Human Mutation · 2011 · 83 citations
An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease
Laure Lecerf, Anthula Kavo, Macarena Ruiz‐Ferrer et al. · Human Mutation · 2013 · 37 citations
Life Sciences, Genetics, Molecular Genetics +14
Combined Computational-Experimental Analyses of<i>CFTR</i>Exon Strength Uncover Predictability of Exon-Skipping Level
Abdel Aissat, Alix de Becdelièvre, Lisa Golmard et al. · Human Mutation · 2013 · 31 citations · Full text
Life Sciences, Genetics, Molecular Biology +17
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease
Anne‐Sophie Jannot, Anna Pelet, Alexandra Henrion‐Caude et al. · PLoS ONE · 2013 · 29 citations · Full text
Life Sciences, Genetics, Molecular Genetics +8
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