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Marie-Laure Vuillaume (M-L Vuillaume)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2020
Publications (10 Years): 7

Top Venues

Human mutation

European journal of human genetics : EJHG

Molecular genetics & genomic medicine

Annals of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Fatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, Patrick J Morrison, Evren Gumus, Katherine D Mathews, Benjamin W Darbro, David J Amor, Maie Walsh, Yves Sznajer, Luisa Weiß, Sabine Weidensee, David Chitayat, Patrick Shannon, Eva Bermejo-Sánchez, Isolina Riaño Galán, Ian Hayes, Gemma Poke, Caroline Rooryck, Perrine Pennamen, Suonavy Khung-Savatovsky, Annick Toutain, Marie-Laure Vuillaume, Siavash Ghaderi-Sohi, Mohamad H Kariminejad, Sönke Weinert, Heinrich Sticht, Martin Zenker, Denny Schanze
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Human mutation 41 (9) (2020)
Cédric Le Caignec, Olivier Pichon, Annaig Briand, Benoît de Courtivron, Christian Bonnard, Pierre Lindenbaum, Richard Redon, Caroline Schluth-Bolard, Flavie Diguet, Pierre-Antoine Rollat-Farnier, Marta Sanchez-Castro, Marie-Laure Vuillaume, Damien Sanlaville, Denis Duboule, André Mégarbané, Annick Toutain
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster. European journal of human genetics : EJHG 28 (3) (2019)
Tania Bitar, Walid Hleihel, Sylviane Marouillat, Sandrine Vonwill, Marie-Laure Vuillaume, Michel Soufia, Patrick Vourc'h, Frederic Laumonnier, Christian Robert Andres
Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders. Molecular genetics & genomic medicine 7 (8) (2019)
Marie-Laure Vuillaume, Marie-Pierre Moizard, Alessandra Baumer, Edouard Cottereau, Fréderic Brioude, Anita Rauch, Annick Toutain
CUGC for Simpson-Golabi-Behmel syndrome (SGBS). European journal of human genetics : EJHG 27 (4) (2019)
Marie-Laure Vuillaume, Marie-Pierre Moizard, Sylvie Rossignol, Edouard Cottereau, Sandrine Vonwill, Jean-Luc Alessandri, Tiffany Busa, Estelle Colin, Marion Gérard, Fabienne Giuliano, Laetitia Lambert, Mathilde Lefevre, Udhaya Kotecha, Sheela Nampoothiri, Irène Netchine, Martine Raynaud, Frédéric Brioude, Annick Toutain
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. Human mutation 39 (6) (2018)
Marie-Laure Vuillaume, Médéric Jeanne, Li Xue, Sophie Blesson, Anne Sophie Denommé-Pichon, Servane Alirol, Céline Brulard, Estelle Colin, Bertrand Isidor, Brigitte Gilbert-Dussardier, Sylvie Odent, Philippe Parent, Audrey Donnart, Richard Redon, Stéphane Bézieau, Philippe Rondard, Frédéric Laumonnier, Annick Toutain
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype. Annals of neurology 83 (2) (2018)
Marie-Laure Vuillaume, M-P Moizard, E Hammouche, M-A Delrue, L Perrin, C Maftei, C Dupont, S Drunat, E Cottereau, C Baumann, A Toutain
Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis? Clinical genetics 93 (5) (2018)

Marie-Laure Vuillaume.css-eqlu8i{font-size:small;padding-left:4px;} (M-L Vuillaume)

Publication Activity (10 Years)

Top Topics

Top Venues

Marie-Laure Vuillaume (M-L Vuillaume)