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2018

Monfermé S, Lasseaux E, Duncombe-Poulet C, Hamel C, Defoort-Dhellemmes S, Drumare I, Zanlonghi X, Dollfus H, Perdomo Y, Bonneau D, Korobelnik J-F, Plaisant C, Michaud V, Pennamen P, Rooryck-Thambo C, Morice-Picard F, Paya C, Arveiler B. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. Br J Ophthalmol Published Online First: 24 November 2018. doi:10.1136/bjophthalmol-2018-312729

Barny I, Perrault I, Michel C, Soussan M, Goudin N, Rio M, Thomas S, Attié-Bitach T, Hamel C, Dollfus H, Kaplan J, Rozet J-M, Gerard X. Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. Hum Mol Genet Published Online First: 16 May 2018. doi:10.1093/hmg/ddy179

Dollfus H. [France Genomics Medicine 2025 plan]. Med Sci (Paris) 2018;34 Hors série n°1:39–41.

Delyfer M-N, Gaucher D, Govare M, Cougnard-Grégoire A, Korobelnik J-F, Ajana S, Mohand-Saïd S, Ayello-Scheer S, Rezaiguia-Studer F, Dollfus H, Sahel J-A, Barale P-O. Adapted Surgical Procedure for Argus II Retinal Implantation: Feasibility, Safety, Efficiency, and Postoperative Anatomic Findings. Ophthalmol Retina 2018;2:276–87.

Geoffroy V, Herenger Y, Kress A, Stoetzel C, Piton A, Dollfus H, Muller J. AnnotSV: an integrated tool for structural variations annotation. Bioinformatics 2018;34:3572–4.

Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey A-S, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze J-F, Friant S, Saunier S, Rozet J-M, Bergmann C, Dollfus H, Muller J. Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. Hum Mutat 2018;39:983–92.

Schalk A, Greff G, Drouot N, Obringer C, Dollfus H, Laugel V, Chelly J, Calmels N. Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome. Eur J Hum Genet 2018;26:527–36.

Laugel-Haushalter V, Morkmued S, Stoetzel C, Geoffroy V, Muller J, Boland A, Deleuze J-F, Chennen K, Pitiphat W, Dollfus H, Niederreither K, Bloch-Zupan A, Pungchanchaikul P. Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning. Front Physiol 2018;9:1329.