John Yang

Pathogenic variants that alter protein code often disrupt splicing

Rachel Soemedi, Kamil J. Cygan, Christy L. Rhine et al. · Nature Genetics · 2017 · 252 citations

Genetics, Pathogenesis, Protein Code +5

Mean platelet volume/platelet count ratio in hepatocellular carcinoma

Sun Young Cho, John Yang, Eunkyoung You et al. · Platelets · 2012 · 98 citations

Tissue-specific and developmental stage-specific DNA binding by a mammalian SWI/SNF complex associated with human fetal-to-adult globin gene switching

David O’Neill, John Yang, Hediye Erdjument‐Bromage et al. · Proceedings of the National Academy of Sciences · 1999 · 89 citations · Full text

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Oguz Kanca, Jonathan C. Andrews, Pei-Tseng Lee et al. · The American Journal of Human Genetics · 2019 · 55 citations · Full text

Wdr37 Are Associated, Mendelian Disorder, Genetic Disorder +9

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke et al. · Genetics in Medicine · 2020 · 49 citations · Full text