Hui Peng

Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease

M. Gelb, D. Iacono, M. Castanedes-Casey, 2022, Neurobiology of Disease.

Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

Yan Wu, Yongzhe Zhang, M. Tian, 2022, Frontiers in Medicine.

Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome

L. Ding, Xueyan Wang, D-L He, 2019, Molecular genetics & genomic medicine.

Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia

S. Robertson, E. Bedoukian, C. Skraban, 2021, American journal of medical genetics. Part A.

Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease

M. Gelb, D. Iacono, M. Castanedes-Casey, 2022, Neurobiology of Disease.

Association of mitochondrial DNA variation with high myopia in a Han Chinese population

Shilai Xing, Jialei Yang, Yinghao Yao, 2023, Molecular Genetics and Genomics.