Authors: Bartels, Cynthia F. Bükülmez, Hülya Padayatti, Pius Rhee, David K. Ravenswaaij-Arts, Conny, Van Pauli, Richard M. Mundlos, Stefan Chiatayat, David Shih, Ling-Yu Al-Gazali, Lihadh I. Kant, Sarina Cole, Trevor Morton, Jenny Cormier-Daire, Valérie Faivre, Laurence Lees, Melissa Kirk, Jeremy Mortier, Geert R. Leory, Jules Zabel, Bernhard Kim, Chong Ae Crow, Yanick Braveman, Nancy E. Akker, Focco, Van : der Warman, Matthew L.

Citation: F. Bartels, Cynthia et al., Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux, American journal of human genetics , 75(1), 2004, pp. 27-34

Authors: Malan, Valérie Rajan, Diana Thomas, Sophie Shaw, Adam C. Cormier-Daire, Valérie

Citation: Malan, Valérie et al., Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 189-198

Authors: Tatton-Brown, Katrina Douglas, Jenny Coleman, Kim Baujat, Geneviève Cole, Trevor R.P. Das, Soma Horn, Denise Hughes, Helen E. Temple, Karen I. Faravelli, Francesca Waggoner, Darrel Türkmen, Seval Cormier-Daire, Valérie Irrthum, Alexandre Rahman, Nazneen Childhood Overgrowth Collaboration

Citation: Tatton-brown, Katrina et al., Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations, American journal of human genetics , 77(2), 2005, pp. 193-204

Authors: Dagoneau, Nathalie Scheffer, Deborah Huber, Céline Al-Gazali, Lihadh I. Di Rocco, Maja Godard, Anne Martinovic, Jelena Raas-Rothschild, Annick Sigaudy, Sabine Unger, Sheila Nicole, Sophie Fontaine, Bertrand Taupin, Jean-Luc Moreau, Jean-François Superti-Fuga, Andrea Le Merrer, Martine Bonaventure, Jacky Munnich, Arnold Legeai-Mallet, Laurence Cormier-Daire, Valérie

Citation: Dagoneau, Nathalie et al., Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome, American journal of human genetics , 74(2), 2004, pp. 298-305

Authors: Benito-Sanz, Sara Thomas, Simon N. Huber, Céline Gorbenko del Blanco, Darya Aza-Carmona, Miriam Crolla, John A. Maloney, Vivienne Argente, Jesùs Campos-Barros, Ángel Cormier-Daire, Valérie Heath, Karen E.

Citation: Benito-sanz, Sara et al., A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis, American journal of human genetics , 77(4), 2005, pp. 533-544

Authors: Dagoneau, Nathalie Benoist-Lasselin, Catherine Huber, Céline Faivre, Laurence Mégarbané, André Alswaid, Abdulrahman Dollfus, Hélène Alembik, Yves Munnich, Arnold Legeai-Mallet, Laurence Cormier-Daire, Valérie

Citation: Dagoneau, Nathalie et al., ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome, American journal of human genetics , 75(5), 2004, pp. 801-806