Jianguo G. Zhang

Shenzhen, 518083, China

Last Updated: 09/26/2026

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Found 36 publications

Clinical and genetic architecture of a large cohort with auditory neuropathy.

Clinical and genetic architecture of a large cohort with auditory neuropathy.

Journal: Human genetics

Published: October 03, 2023

Letter regarding the article "two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability" (Isidor et al., 2015).

Letter regarding the article "two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability" (Isidor et al., 2015).

Journal: European journal of medical genetics

Published: September 07, 2020

Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype.

Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype.

Journal: Cell & bioscience

Published: January 18, 2019

Mutations in topoisomerase IIβ result in a B cell immunodeficiency.

Mutations in topoisomerase IIβ result in a B cell immunodeficiency.

Journal: Nature communications

Published: October 23, 2018

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Journal: Scientific reports

Published: August 24, 2018

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.

Journal: Frontiers in genetics

Published: July 25, 2018

Dysfunction of Myosin Light-Chain 4 (MYL4) Leads to Heritable Atrial Cardiomyopathy With Electrical, Contractile, and Structural Components: Evidence From Genetically-Engineered Rats.

Dysfunction of Myosin Light-Chain 4 (MYL4) Leads to Heritable Atrial Cardiomyopathy With Electrical, Contractile, and Structural Components: Evidence From Genetically-Engineered Rats.

Journal: Journal of the American Heart Association

Published: October 30, 2017

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

Journal: Oncotarget

Published: March 27, 2017

Exome sequencing identifies FATP1 mutation in Melkersson-Rosenthal syndrome.

Exome sequencing identifies FATP1 mutation in Melkersson-Rosenthal syndrome.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: November 19, 2016

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.

Journal: BMC medical genetics

Published: July 27, 2016

Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.

Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.

Journal: Nature genetics

Published: June 06, 2016

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.

Journal: Journal of clinical immunology

Published: February 11, 2016

Showing 1-12 of 36

Last Updated: 09/26/2026