Jianqiang Tan

Liuzhou, 545000, China

Last Updated: 09/26/2026

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Found 17 publications

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.

Journal: Genome medicine

Published: July 31, 2025

Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.

Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.

Journal: BMC neurology

Published: February 26, 2025

A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.

A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.

Journal: Clinical genetics

Published: September 12, 2024

Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing.

Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing.

Journal: The Journal of molecular diagnostics : JMD

Published: November 16, 2023

Analysis of IVD gene variants in four children with isovalerate acidemia

Analysis of IVD gene variants in four children with isovalerate acidemia

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 01, 2022

Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia.

Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia.

Journal: Frontiers in genetics

Published: August 27, 2021

Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.

Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.

Journal: Molecular medicine reports

Published: July 01, 2021

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.

Journal: Frontiers in genetics

Published: November 20, 2020

Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy

Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: January 11, 2020

Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II

Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 09, 2019

Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi

Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: November 09, 2019

Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type Ⅰ

Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type Ⅰ

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: September 14, 2019

Showing 1-12 of 17

Last Updated: 09/26/2026