Chin‐To Fong

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

Tamio Suzuki, Wei Li, Qing Zhang et al. · Nature Genetics · 2002 · 182 citations

Life Sciences, Genetics, Molecular Genetics +5

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Patricia Heyn, Clare V. Logan, Adeline Fluteau et al. · Nature Genetics · 2018 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Bo Yuan, Juanita Neira, Davut Pehli̇van et al. · Genetics in Medicine · 2018 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

GRM7 variants associated with age-related hearing loss based on auditory perception

Dina L. Newman, Laurel M. Fisher, Jeffrey D. Ohmen et al. · Hearing Research · 2012 · 82 citations · Full text

Health Professions, Audiology, Neuroscience +13

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14