A
Alain Verloes
Researcher at University of Paris
Publications - 464
Citations - 21574
Alain Verloes is an academic researcher from University of Paris. The author has contributed to research in topics: Microcephaly & Noonan syndrome. The author has an hindex of 73, co-authored 450 publications receiving 19231 citations. Previous affiliations of Alain Verloes include Institut Universitaire de France & Max Planck Society.
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Journal ArticleDOI
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Jean-Baptiste Rivière,Bregje W.M. van Bon,Alexander Hoischen,S.S. Kholmanskikh,Brian J. O'Roak,Christian Gilissen,Sabine Gijsen,Christopher T. Sullivan,Susan L. Christian,Omar A. Abdul-Rahman,Joan F. Atkin,Nicolas Chassaing,Valérie Drouin-Garraud,Andrew E. Fry,Jean-Pierre Fryns,Karen W. Gripp,Marlies Kempers,Tjitske Kleefstra,Grazia M.S. Mancini,Małgorzata J.M. Nowaczyk,Conny M. A. van Ravenswaaij-Arts,Tony Roscioli,Michael Marble,Jill A. Rosenfeld,Victoria Mok Siu,Bert B.A. de Vries,Jay Shendure,Alain Verloes,Joris A. Veltman,Han G. Brunner,M. Elizabeth Ross,Daniela T. Pilz,William B. Dobyns +32 more
TL;DR: The results confirm that trio-based exome sequencing is a powerful approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles of cytoplasmic actin proteins in development and suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes.
Journal ArticleDOI
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome
Caroline Nava,Nadine Hanna,Caroline Michot,Sabrina Pereira,Nathalie Pouvreau,Tetsuya Niihori,Yoko Aoki,Yoichi Matsubara,Benoit Arveiler,Didier Lacombe,Eric Pasmant,Béatrice Parfait,Clarisse Baumann,Delphine Héron,Sabine Sigaudy,Annick Toutain,Marlène Rio,Alice Goldenberg,Bruno Leheup,Alain Verloes,Hélène Cavé +20 more
TL;DR: Results confirm that KRAS is a minor contributor to NS and show that MEK is involved in some cases of NS, demonstrating a phenotypic continuum between the clinical entities.
Journal ArticleDOI
Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome
Corinne Stoetzel,Jean Muller,Virginie Laurier,Erica E. Davis,Norann A. Zaghloul,Serge Vicaire,Cécile Jacquelin,Frédéric Plewniak,Carmen C. Leitch,Pierre Sarda,Christian P. Hamel,Thomy de Ravel,Richard A. Lewis,Evelyne Friederich,Christelle Thibault,Jean-Marc Danse,Alain Verloes,Dominique Bonneau,Nicholas Katsanis,Olivier Poch,Jean-Louis Mandel,Hélène Dollfus +21 more
TL;DR: A new BBS gene is identified, BBS12, which is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of the type II chaperonin superfamily, and is likely to perform ciliary functions specific to vertebrates that are important in the pathophysiology of the syndrome.
Journal ArticleDOI
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
TL;DR: Data show that NCL and KRS may share etiological features and implicate the lysosomal pathway in Parkinson's disease, and a single homozygous mutation in ATP13A2 that fully segregates with disease within the family is identified.
Journal ArticleDOI
Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis
Shih-hsin Kan,N Elanko,David Johnson,Laura R. Cornejo-Roldan,Jackie Cook,Elsa Reich,Susan Tomkins,Alain Verloes,Stephen R.F. Twigg,Sahan V. Rannan-Eliya,Donna M. McDonald-McGinn,Elaine H. Zackai,Steven A. Wall,Maximilian Muenke,Andrew O.M. Wilkie +14 more
TL;DR: The spectrum of FGFR2 mutations causing craniosynostosis is wider than previously recognized but that, nevertheless, the IgIIIa/IIIc region represents a genuine mutation hotspot.