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Huifang Yan

Peking University

21

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174

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Lymphedema complicated by protein-losing enteropathy with a 22q13.3 deletion and the potential role of CELSR1: A case report.

2021 Medicine
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Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.

2021 Journal of Human Genetics
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Novel insight into the potential pathogenicity of mitochondrial dysfunction resulting from PLP1 duplication mutations in patients with Pelizaeus–Merzbacher disease

2021
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Epilepsy in children with leukodystrophies.

2020 Journal of Neurology
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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

2020 European Journal of Human Genetics
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Germline de novo variants in CSNK2B in Chinese patients with epilepsy.

2019 Scientific Reports
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Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation

2019 Gene
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Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models

2019 World Journal of Pediatrics
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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

2019 Journal of Clinical Investigation
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Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy

2019 American Journal of Human Genetics
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