Hui Huang

Whole‐exome sequencing identifies a homozygous donor splice‐site mutation in <i><scp>STAG3</scp></i> that causes primary ovarian insufficiency

Wenjie He, Santasree Banerjee, Juan Du et al. · Clinical Genetics · 2017 · 102 citations

Medicine, Genetics, Molecular Genetics +15

Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening

Ting Chen, Chunna Fan, Yonglan Huang et al. · JAMA Network Open · 2023 · 85 citations · Full text

Medicine, Genetics, Pediatrics +16

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

Niu Li, Yirou Wang, Yu Yang et al. · Orphanet Journal of Rare Diseases · 2018 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

Yan Sun, Fengxia Liu, Chunna Fan et al. · BMC Medical Genomics · 2021 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Silencing of microRNA-146a alleviates the neural damage in temporal lobe epilepsy by down-regulating Notch-1

Hui Huang, Guiyun Cui, Hai Tang et al. · Molecular Brain · 2019 · 34 citations · Full text

Life Sciences, Neurobiology, Neuroscience +16