Albert David

Overview

Best Publications

• X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

  Frédéric Laumonnier;Frédérique Bonnet-Brilhault;Marie Gomot;Romuald Blanc

  905
  Citations

• A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

  R. G. Walters;S. Jacquemont;A. Valsesia;A. Valsesia;A. Valsesia;A. J. de Smith

  623
  Citations

• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

  Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  557
  Citations

• High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

  Virginie Bubien;Françoise Bonnet;Françoise Bonnet;Veronique Brouste;Stéphanie Hoppe

  397
  Citations

• A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

  Flore Zufferey;Elliott H. Sherr;Noam D. Beckmann;Ellen Hanson

  348
  Citations

• Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

  Jennifer J. Johnston;Isabelle Olivos-Glander;Christina Killoran;Emma Elson

  299
  Citations

• Distribution of Mutations in the PEX Gene in Families with X-linked Hypophosphataemic Rickets (HYP)

  Peter S.N. Rowe;Claudine L. Oudet;Fiona Francis;Christiane Sinding

  290
  Citations

• SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

  Sébastien Albert;Hélène Blons;Laurence Jonard;Delphine Feldmann

  281
  Citations

• Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

  Debra D'Angelo;Sébastien Lebon;Qixuan Chen;Sandra Martin-Brevet

  276
  Citations

• A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

  Philippe Latour;Christel Thauvin-Robinet;Chantal Baudelet-Méry;Pierre Soichot

  251
  Citations

• Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

  C Le Caignec;M Boceno;P Saugier-Veber;S Jacquemont

  227
  Citations

• Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

  Zandra A Jenkins;Margriet van Kogelenberg;Tim Morgan;Aaron Jeffs

  207
  Citations

• Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

  Bertrand Isidor;Pierre Lindenbaum;Pierre Lindenbaum;Olivier Pichon;Stéphane Bézieau

  202
  Citations

• Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

  Alexander Pearlman;Johnny Loke;Cedric Le Caignec;Stefan John White

  201
  Citations

• Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

  C Thauvin-Robinet;M Cossée;V Cormier-Daire;L Van Maldergem

  181
  Citations

• Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

  Sascha Vermeer;Alexander Hoischen;Rowdy P.P. Meijer;Christian Gilissen

  170
  Citations

• Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

  Marie Vincent;David Geneviève;Agnès Ostertag;Sandrine Marlin

  169
  Citations

• TCTN3 Mutations Cause Mohr-Majewski Syndrome

  Sophie Thomas;Sophie Thomas;Marine Legendre;Sophie Saunier;Sophie Saunier;Bettina Bessières

  156
  Citations

• Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

  Julie Demars;Mansur Ennuri Shmela;Sylvie Rossignol;Jun Okabe

  151
  Citations

• Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

  Tomoko Kobayashi;Yoko Aoki;Tetsuya Niihori;Hélène Cavé

  149
  Citations