List of works - Jianguo Zhang - Paulina

List of works by Jianguo Zhang

A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms

scientific article

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

scientific article published on 11 April 2016

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

scientific article published on 20 September 2019

De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.

scientific article published on 10 June 2014

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

scientific article published on 28 October 2017

Identified OAS3 gene variants associated with coexistence of HBsAg and anti-HBs in chronic HBV infection.

scientific article published on 27 March 2018

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

scientific article published in Scientific Reports

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

scientific article published on 2 January 2015

Mutations in topoisomerase IIβ result in a B cell immunodeficiency

scientific article published on 13 August 2019

New Gene Variants Associated with the Risk of Chronic HBV Infection

scientific article published on 15 April 2020

Revealing Alzheimer's disease genes spectrum in the whole-genome by machine learning.

scientific article published on 10 January 2018

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

scientific article published on 27 January 2016

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