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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Jean Muller
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Corinne Stoetzel
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Marie-Claire Vincent
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Carmen C Leitch
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Virginie Laurier
et al.
Journal articles
inserm-00462147v1
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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
Megana K. Prasad
,
Véronique Geoffroy
,
Serge Vicaire
,
Bernard Jost
,
Michael Dumas
et al.
Journal articles
hal-01272929v1
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High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in France and characterization of biochemical and clinical features.
Gaël Manes
,
Tremeur Guillaumie
,
Werner L Vos
,
Aurore Devos
,
Isabelle Audo
et al.
Journal articles
hal-01091447v1
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The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol
Catherine Lejeune
,
Charley Robert-Viard
,
Nicolas Meunier-Beillard
,
Myriam Alice Borel
,
Léna Gourvès
et al.
Journal articles
hal-03678712v1
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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Marie Vincent
,
David Geneviève
,
Agnès Ostertag
,
Sandrine Marlin
,
Didier Lacombe
et al.
Journal articles
hal-01134364v1
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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
Nicolas Chassaing
,
Erica E. Davis
,
Kelly L. Mcknight
,
Adrienne R. Niederriter
,
Alexandre Causse
et al.
Journal articles
hal-01282340v1
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
Clarisse Delvallée
,
Samuel Nicaise
,
Manuela Antin
,
Anne-Sophie Leuvrey
,
Elsa Nourisson
et al.
Journal articles
hal-03007093v1
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Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Marc Ferré
,
Dominique Bonneau
,
Dan Milea
,
Arnaud Chevrollier
,
Christophe Verny
et al.
Journal articles
inserm-00372261v1
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Hereditary optic neuropathies share a common mitochondrial coupling defect.
Arnaud Chevrollier
,
Virginie Guillet
,
Dominique Loiseau
,
Naïg Gueguen
,
Marie-Anne Pou de Crescenzo
et al.
Journal articles
istex
hal-00282865v1
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Non-USH2A mutations in USH2 patients.
Thomas Besnard
,
Christel Vaché
,
David Baux
,
Lise Larrieu
,
Caroline Abadie
et al.
Journal articles
istex
inserm-00650795v1
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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Henri Margot
,
Guilaine Boursier
,
Claire Duflos
,
Elodie Sanchez
,
Jeanne Amiel
et al.
Journal articles
hal-02268419v1
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
Marine Legendre
,
Véronique Abadie
,
Tania Attié-Bitach
,
Nicole Philip
,
Tiffany Busa
et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩
Journal articles
hal-01691932v1
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