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Bruno Leheup | Researchclopedia

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Bruno Leheup

Centre Hospitalier Régional et Universitaire de Nancy

198

Works

7,858

Citations

48

h-index

117

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities Genomics and Rare Diseases

Affiliations

Inserm1993–2024

Institut Pasteur1993–1993

Université de Bourgogne2023–2023

Vanderbilt University1984–1984

University of Zurich2023–2023

Top Works

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

Robin Walters,Sébastien Jacquemont,et al.

2010557 citations

Connective tissue disorders research

RNA modifications and cancer

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel,Virginie Laurier,et al.

2006285 citations

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,et al.

2007254 citations

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Éric Pasmant,Audrey Sabbagh,et al.

2010239 citations

Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

Laurent Maı̈moun,Pascal Philibert,et al.

2010211 citations

Mutations of the<i>PRKAR1A</i>Gene in Cushing’s Syndrome due to Sporadic Primary Pigmented Nodular Adrenocortical Disease

Lionel Groussin,Eric Jullian,et al.

2002167 citations

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

Marie Vincent,David Geneviève,et al.

2015160 citations

Kallmann syndrome: 14 novel mutations in<i>KAL1</i>and<i>FGFR1</i>(<i>KAL2</i>)

Juliette Albuisson,Chistophe Pêcheux,et al.

2004143 citations

Noonan Syndrome: Relationships between Genotype, Growth, and Growth Factors

Jean‐Marie Limal,Béatrice Parfait,et al.

2006136 citations