Angela Sun

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang et al. · The American Journal of Human Genetics · 2021 · 239 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Megalencephalic leukoencephalopathy with subcortical cysts

Eline M. Hamilton, Pınar Tektürk, Fia Cialdella et al. · Neurology · 2018 · 81 citations · Full text

Medicine, Neurology, Neuroscience +9

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 75 citations

Medicine, Speech-language Pathology, Articulation Disorders +16

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov et al. · The American Journal of Human Genetics · 2020 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

<i>FGFR3</i> mutation frequency in 324 cases from the International Skeletal Dysplasia Registry

Yuan Xue, Angela Sun, Pertchoui B. Mekikian et al. · Molecular Genetics & Genomic Medicine · 2014 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14