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Whole‐exome sequencing identifies a homozygous donor splice‐site mutation in STAG3 that causes primary ovarian insufficiency

H. Huang, G. Lin, Yueqiu Tan, 2018, Clinical genetics.

SPG35 contributes to the second common subtype of AR‐HSP in China: frequency analysis and functional characterization of FA2H gene mutations

K. Xia, Q. Pan, X. Yan, 2015, Clinical genetics.

Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia

Zhening Liu, Haihong Liu, Jingping Zhao, 2016, 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.

Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32.

M. Zeviani, R. Rizzuto, B. Darras, 1988, Genomics.

Chromosomal mapping of genes for transforming growth factors beta 2 and beta 3 in man and mouse: dispersion of TGF-beta gene family.

R. Derynck, D. Barton, U. Francke, 1988, Oncogene research.

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.