Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Kym M. Boycott, Ana Rath, Jessica X. Chong et al. · The American Journal of Human Genetics · 2017 · 453 citations · Full text

Medicine, Genetics, Molecular Genetics +14

A genetic mechanism for Tibetan high-altitude adaptation

Felipe Lorenzo, Chad D. Huff, Mikko Myllymäki et al. · Nature Genetics · 2014 · 435 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Digital Commons@Becker (Washington University School of Medicine) · 2014 · 421 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Placental but Not Heart Defects Are Associated with Elevated Hypoxia-Inducible Factor α Levels in Mice Lacking Prolyl Hydroxylase Domain Protein 2

Kotaro Takeda, Vivienne C. Ho, Hiromi Takeda et al. · Molecular and Cellular Biology · 2006 · 401 citations · Full text

Life Sciences, Developmental Biology, Molecular Biology +17