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authFullName_s : Josseline Kaplan

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

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Mouna Barat-Houari , Bruno Dumont , Aurelie J Fabre , Frédéric Tm Them , Yves Alembik et al.
European Journal of Human Genetics, 2016, 24 (7), pp.992-1000. ⟨10.1038/ejhg.2015.250⟩
Journal articles hal-01239808v1
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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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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

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
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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria.

Lucas Fares-Taie , Sylvie Gerber , Akihiko Tawara , Arturo Ramirez-Miranda , Jean-Yves Douet et al.
American Journal of Human Genetics, 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
Journal articles hal-01134461v1
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First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Bertrand Chesneau , Marion Aubert-Mucca , Felix Fremont , Jacmine Pechmeja , Vincent Soler et al.
Clinical Genetics, 2022, 101 (5-6), pp.494-506. ⟨10.1111/cge.14123⟩
Journal articles hal-03610074v1