Publications by authors named "Xiangbin Jia"

5Publications

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Am J Hum Genet 2020 Nov;107(5):963-976

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan 410078, China; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai 200000, China. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674997PMC
November 2020

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development.

J Genet Genomics 2019 05 18;46(5):247-257. Epub 2019 May 18.

Center of Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, China; School of Life Sciences and Technology, Xinjiang University, Ürümqi, 830046, China; CAS Center for Excellence in Brain Science and Intelligence Technology (CEBSIT), Chinese Academy of Sciences, Shanghai, 200030, China. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jgg.2019.04.002DOI Listing
May 2019

Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.

Am J Med Genet A 2018 12 9;176(12):2668-2676. Epub 2018 Dec 9.

Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.40666
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.40666DOI Listing
December 2018