Rebecca O. Littlejohn

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 221 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari et al. · Human Genetics · 2016 · 170 citations · Full text

Medicine, Clinical Sciences, Pathology +13

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn et al. · The American Journal of Human Genetics · 2016 · 104 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Teresa Santiago‐Sim, Lindsay C. Burrage, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Mari Tokita, Alicia Braxton, Yunru Shao et al. · The American Journal of Human Genetics · 2016 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16