J. Roume

Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

Anne-Sixtine Jobert, Alain Couvineau, Jacky Bonaventure et al. · Journal of Clinical Investigation · 1998 · 327 citations · Full text

Sclerostin, Genetics, Parathyroid Disease +17

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Olivier Gribouval, Marie Gonzalès, Thomas J. Neuhaus et al. · Nature Genetics · 2005 · 287 citations

Renal Function, Developmental Biology, Genetics +7

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 281 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jelena Martinović et al. · The American Journal of Human Genetics · 2007 · 280 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +7

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

Gaëtan Lesca, Carla Olivieri, Nelly Burnichon et al. · Genetics in Medicine · 2007 · 224 citations

Genotype-phenotype Correlations, Hereditary Hemorrhagic Telangiectasia, Genetic Disorder +10