Robert Kleyner

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski et al. · The American Journal of Human Genetics · 2019 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland et al. · The American Journal of Human Genetics · 2018 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Hanyin Cheng, Leah Gottlieb, Elaine Marchi et al. · Human Molecular Genetics · 2019 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Missense variants in <i>TAF1</i> and developmental phenotypes: Challenges of determining pathogenicity

Hanyin Cheng, Simona Capponi, Emma Wakeling et al. · Human Mutation · 2019 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

KBG syndrome involving a single-nucleotide duplication in <i>ANKRD11</i>

Robert Kleyner, Janet Malcolmson, David Tegay et al. · Molecular Case Studies · 2016 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17