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authFullName_s : Hélène Dollfus

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Jean Muller , Corinne Stoetzel , Marie-Claire Vincent , Carmen C Leitch , Virginie Laurier et al.
Human Genetics, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
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 of Medical Genetics, 2016, 53 (2), pp.98--110. ⟨10.1136/jmedgenet-2015-103302⟩
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.
Ophthalmology: Journal of The American Academy of Ophthalmology, 2015, 159 (2), pp.302-314. ⟨10.1016/j.ajo.2014.10.033⟩
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.
Frontiers in Genetics, 2022, 13, pp.852472. ⟨10.3389/fgene.2022.852472⟩
Journal articles hal-03678712v1

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.
Genetics in Medicine, 2016, 18 (1), pp.49-56. ⟨10.1038/gim.2015.29⟩
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.
Genome Research, 2016, 26 (4), pp.474-485. ⟨10.1101/gr.196048.115⟩
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.
Clinical Genetics, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Journal articles hal-03007093v1

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.
Human Mutation, 2009, 30 (7), pp.E692-705. ⟨10.1002/humu.21025⟩
Journal articles inserm-00372261v1

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Arnaud Chevrollier , Virginie Guillet , Dominique Loiseau , Naïg Gueguen , Marie-Anne Pou de Crescenzo et al.
Annals of Neurology, 2008, 63 (6), pp.794-8. ⟨10.1002/ana.21385⟩
Journal articles istex hal-00282865v1

Non-USH2A mutations in USH2 patients.

Thomas Besnard , Christel Vaché , David Baux , Lise Larrieu , Caroline Abadie et al.
Human Mutation, 2012, 33 (3), pp.504-10. ⟨10.1002/humu.22004⟩
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.
Genetics in Medicine, 2020, 22 (1), pp.181-188. ⟨10.1038/s41436-019-0623-x⟩
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