Claudine Rieubland

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Pierre Rustin et al. · PubMed · 2003 · 548 citations

Adrenal Gland, Germ-line Mutations, Endocrine Disease +11

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

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Functional Consequences of a<i>SDHB</i>Gene Mutation in an Apparently Sporadic Pheochromocytoma

Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Pierre Rustin et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 209 citations · Full text

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

Sylvia Huisman, Paul A. Mulder, E. Redeker et al. · American Journal of Medical Genetics Part A · 2017 · 94 citations · Full text