F Duriez

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 · 240 citations · Full text

Developmental Biology, Medicine, Genetics +11

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

GJB2 and GJB6 Mutations

Sandrine Marlin, Delphine Feldmann, Hélène Blons et al. · Archives of Otolaryngology - Head and Neck Surgery · 2005 · 103 citations

Screening of <i>SLC26A4</i> (<i>PDS</i>) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Hélène Blons, D Feldmann, Vincent Duval et al. · Clinical Genetics · 2004 · 98 citations

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

M. Lévêque, Sandrine Marlin, Laurence Jonard et al. · European Journal of Human Genetics · 2007 · 95 citations · Full text

Developmental Biology, Mitochondrial Function, Genetics +11