Bruno Leheup
Centre Hospitalier Régional et Universitaire de Nancy(FR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Connective tissue disorders research, RNA modifications and cancer
Most-Cited Works
- → A new highly penetrant form of obesity due to deletions on chromosome 16p11.2(2010)557 cited
- → BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus(2006)285 cited
- → Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome(2007)254 cited
- → NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype(2010)239 cited
- → Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients(2010)210 cited
- → Mutations of thePRKAR1AGene in Cushing’s Syndrome due to Sporadic Primary Pigmented Nodular Adrenocortical Disease(2002)167 cited