Concepedia
Statistics
Publications
16
Citations
614
H-Index
13
Active since
2016
Affiliations
Peking University First Hospital(Current)
Peking University
National Health and Family Planning Commission
University of Michigan
Capital Medical University
Huifang Yan is an author at Peking University First Hospital specializing in life sciences, genetics, and genetic disorders.
Publications per year
2016–2022
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 106 citations · Full text
Life Sciences, Neurology, Neuroscience +17
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
Huifang Yan, Guy Helman, Swetha E. Murthy et al. · The American Journal of Human Genetics · 2019 · 96 citations · Full text
Life Sciences, Genetics, Neuroscience +16
Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation
Jinliang Li, Kai Gao, Huifang Yan et al. · Gene · 2019 · 73 citations
Medicine, Molecular Genetics, Neuroscience +14
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G. Drivas, Dong Li, Divya Nair et al. · European Journal of Human Genetics · 2020 · 51 citations · Full text
Life Sciences, Genetics, Molecular Genetics +4
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
Huifang Yan, Haoran Ji, Thomas L. Kubisiak et al. · Journal of Human Genetics · 2021 · 46 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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