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Albert David | Researchclopedia

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Albert David

202

Works

10,338

Citations

55

h-index

134

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Congenital heart defects research

Affiliations

Centre National de la Recherche Scientifique2021–2022

University of Bonn2014–2014

Inserm1994–2021

Centre de Recherche en Mathématiques de la Décision2022–2022

University of Zurich2011–2011

Top Works

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,et al.

2004760 citations

Connective tissue disorders research

RNA modifications and cancer

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

Sébastien Jacquemont,Alexandre Reymond,et al.

2011476 citations

High cumulative risks of cancer in patients with <i>PTEN</i> hamartoma tumour syndrome

Virginie Bubien,Françoise Bonnet,et al.

2013365 citations

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

Debra D’Angelo,Sébastien Lebon,et al.

2015292 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,et al.

2005276 citations

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

Sébastien Albert,Hélène Blons,et al.

2006241 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,et al.

2010227 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,et al.

2010222 citations

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

Zandra A. Jenkins,Margriet van Kogelenberg,et al.

2008197 citations