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

Huifang Yan, Haoran Ji, Thomas L. Kubisiak, +17

Journal of Human Genetics

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

Huifang Yan, Zhen Shi, Ye Wu, +12

BMC Medical Genetics

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients

Haoran Ji, Dongxiao Li, Ye Wu, +24

PLoS ONE

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease

Ye Wu, Yanxia Pan, Li Du, +8

Journal of Human Genetics

EngineeringAutoimmune DiseaseDisease MechanismGenetic DisorderMedicine +12

Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder

Xiaoli Chen, Jingmin Wang, Hua Xie, +14

BMC Pediatrics

Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations

Lili Zang, Jingmin Wang, Yuwu Jiang, +5

Journal of Human Genetics

Genetic TestingChinese ChildrenGenetic DisorderGeneticsGenetic Epidemiology +10

Ketogenic Diet Therapy for Drug-Resistant Epilepsy and Cognitive Impairment in Children With Tuberous Sclerosis Complex

Yu Fang, Dan Li, Man Wang, +14

Frontiers in Neurology

Identification of Novel <i>ARSA</i> Mutations in Chinese Patients with Metachromatic Leukodystrophy

Li Chen, Huifang Yan, Binbin Cao, +15

International Journal of Genomics

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)

Jingmin Wang, Jing Shang, Ye Wu, +7

Journal of Human Genetics

Neurobiology Of DiseaseNeurological DisorderMedicineNeurological ProgressPathology +6

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

Kaili Shi, Zhen Shi, Huifang Yan, +7

BMC Medical Genetics