Peng Han

发表

Identification of causative variants in patients with non-syndromic hearing loss in the Minnan region, China by targeted next-generation sequencing

Xiaohui Wu, Xingqiang Gao, Peng Han, 2019, Acta oto-laryngologica.

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

S. Banerjee, Hui Huang, Jing Wu, 2018, Front. Genet..

Family-Based Whole Genome Sequencing Identified Novel Variants in ABCA5 Gene in a Patient with Idiopathic Ventricular Tachycardia

Xin Liu, Xun Xu, S. Banerjee, 2020, Pediatric Cardiology.

Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

S. Banerjee, Hui Huang, Jing Wu, 2018, Front. Genet..

Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis

Xi Xiang, Zhanying Dong, Yonglun Luo, 2020, Journal of cellular and molecular medicine.

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome

S. Banerjee, Subrata Kumar Dey, Chen Li, 2019, Journal of cellular and molecular medicine.

Clinical diagnosis and genetic counseling of atypical ataxia-telangiectasia in a Chinese family

Aifen Zhou, Xuemei Tan, Jing Wu, 2019, Molecular medicine reports.

Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome

Saijun Liu, Hui Huang, Jing Wu, 2019, Science China Life Sciences.

A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome

S. Pan, Peng Han, Z. Ji, 2017, Oncotarget.

Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome

Saijun Liu, Hui Huang, Jing Wu, 2019, Science China Life Sciences.

A comprehensive assessment of Next‐Generation Sequencing variants validation using a secondary technology

Ye Yin, Hongyun Zhang, Qian Yang, 2019, Molecular genetics & genomic medicine.