C. Calais

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

Sébastien Albert, Hélène Blons, Laurence Jonard et al. · European Journal of Human Genetics · 2006 · 243 citations

Medicine, Genetics, Molecular Genetics +12

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Crystel Bonnet, M’hamed Grati, Sandrine Marlin et al. · Orphanet Journal of Rare Diseases · 2011 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

GJB2 and GJB6 Mutations

Sandrine Marlin, Delphine Feldmann, Hélène Blons et al. · Archives of Otolaryngology - Head and Neck Surgery · 2005 · 104 citations

Medicine, Genetics, Molecular Genetics +12

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

David Baux, Christel Vaché, Christophe Blanchet et al. · Scientific Reports · 2017 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain of Jagged 1

Cédric Le Caignec, M. Lefevre, Jean‐Jacques Schott et al. · The American Journal of Human Genetics · 2002 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12