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European Journal of Human Genetics : EJHG|May 19, 2022
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1Maya Chopra, Richard Caswell, Giulia Barcia, et al.
American Journal of Medical Genetics. Part A|November 13, 2007
Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiencyFrédéric Lirussi, Laurence Jonard, Véronique Gaston, et al.
Gene|May 18, 2013
Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing lossZied Riahi, Hassen Hammami, Houyem Ouragini, et al.
Genes|May 27, 2026
COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype CorrelationsRalyath Balogoun, Margaux Serey-Gaut, Véronique Pingault, et al.
Human Mutation|September 22, 2016
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the LiteratureJustine Lerat, Laurence Jonard, Natalie Loundon, et al.
Plos One|June 14, 2014
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafnessZied Riahi, Crystel Bonnet, Rim Zainine, et al.
Human Genetics|February 7, 2025
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variantsMargaux Serey-Gaut, Ralyath Balogoun, Laurence Jonard, et al.
Clinical Genetics|October 10, 2018
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5Justine Lerat, Crystel Bonnet, François Cartault, et al.
Human Molecular Genetics|November 10, 2011
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in childrenFlorence Flamein, Laure Riffault, Céline Muselet-Charlier, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chipMarianne Lévêque, Sandrine Marlin, Laurence Jonard, et al.
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