Huifang Yan

发表

Genotype–phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus–merzbacher disease

Ming Li, Yuwu Jiang, Ye Wu, 2022, Orphanet Journal of Rare Diseases.

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

L. D. de Vries, A. Patapoutian, R. Taft, 2019, American journal of human genetics.

Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy

L. D. de Vries, A. Patapoutian, R. Taft, 2019, bioRxiv.

Study on the Economic Burden of Neurodevelopmental Diseases on Patients With Genetic Diagnosis

Zhiqun Xie, Donghua Xie, Junqun Fang, 2022, Frontiers in Public Health.

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

N. Perrimon, M. Burmeister, J. Penninger, 2022, EMBO molecular medicine.

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre

Zhaoxia Wang, Huifang Yan, X. Chang, 2022, BMC Pediatrics.

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

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus–Merzbacher Disease

M. He, Liangyi Chen, Liuju Li, 2021, Neuroscience.

Clinical observation in 31 cases of chronic bronchitis at remission stage treated with bufei keli.

Huifang Yan, Guanping Liu, Yangchun Liu, 2003, Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan.

A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review

Fan Yang, Huifang Yan, Yan Lu, 2022, Molecular genetics & genomic medicine.

The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

M. Burmeister, T. Kubisiak, Jiangxi Xiao, 2018, Brain : a journal of neurology.

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy

Zhixian Yang, Huixia Yang, Yuehua Zhang, 2018, International journal of genomics.

Epilepsy in children with leukodystrophies

Zhen Shi, Yuwu Jiang, Ye Wu, 2020, Journal of Neurology.

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

M. Burmeister, Yuehua Zhang, X. Bao, 2021, Journal of Human Genetics.

Germline de novo variants in CSNK2B in Chinese patients with epilepsy

Y. Liu, Zhixian Yang, Yuwu Jiang, 2019, Scientific Reports.

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Yiping Shen, Linlin M Chen, D. Liang, 2022, Human mutation.

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

Xiaoping Yang, Zhen Shi, Yuwu Jiang, 2019, BMC Medical Genetics.

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research

Yuwu Jiang, Yanling Yang, Jiangxi Xiao, 2016, PloS one.

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

Zhen Shi, Yuwu Jiang, Yanling Yang, 2019, World Journal of Pediatrics.

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin

Zhen Shi, Yuwu Jiang, Kaili Shi, 2019, BMC Medical Genetics.

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

Yuwu Jiang, Wenshu XiangWei, Jinliang Li, 2019, Gene.

Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy

M. Burmeister, T. Kubisiak, Yuwu Jiang, 2022, Cells.

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

W. Shen, Kun Chang, Huifang Yan, 2021, Medicine.

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Xiaoping Yang, D. Liang, Xuefan Gu, 2018, American journal of human genetics.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Kiely N. James, A. Fatemi, M. Tarnopolsky, 2019, The Journal of clinical investigation.

FIBCD1 is a Conserved Receptor for Chondroitin Sulphate Proteoglycans of the Brain Extracellular Matrix and a Candidate Gene for a Complex Neurodevelopmental Disorder

N. Perrimon, M. Burmeister, J. Penninger, 2021 .

Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation

Yanquan Mo, Liangyi Chen, Xiaolu Zheng, 2023, Science China Life Sciences.

Live-cell superresolution pathology reveals different molecular mechanisms of pelizaeus-merzbacher disease.

Liuju Li, Xiaolu Zheng, R. Duan, 2020, Science bulletin.

Paraplegia and paraparesis from intrathecal methotrexate and cytarabine contaminated with trace amounts of vincristine in China during 2007.

Feng Ruan, Hui-lai Ma, R. Fontaine, 2011, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.

M. Burmeister, T. Kubisiak, Yuwu Jiang, 2022, Brain : a journal of neurology.

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

Liuju Li, Xiaolu Zheng, Shiqun Zhao, 2021 .

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Yiping Shen, Linlin M Chen, D. Liang, 2021, Human mutation.