Didier Lacombe

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Yaoqin Gong, Roger B. Slee, N Fukai et al. · Cell · 2001 · 2.2K citations · Full text

Bone Accrual, Sclerostin, Signal Transduction +8

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

Sonia Abdelhak, Vasiliki Kalatzis, Roland Heilig et al. · Nature Genetics · 1997 · 678 citations

Biology, Developmental Biology, Novel Gene Family +9

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick J. Crow, Andrea Leitch, Bruce E. Hayward et al. · Nature Genetics · 2006 · 666 citations

Ribonuclease H2, Viral Evolution, Genetic Disorder +10

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Karine Poirier, Nicolas Lebrun, Loïc Broix et al. · Nature Genetics · 2013 · 488 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +9

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8