Xingkun Yang

Guangzhou, 510120, China

Last Updated: 09/26/2026

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Found 11 publications

Genetic dissection of clinical heterogeneity in hemoglobin H patients by targeted long-read sequencing.

Genetic dissection of clinical heterogeneity in hemoglobin H patients by targeted long-read sequencing.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: December 11, 2025

ARID1B regulates sphingolipid metabolism and myelin development via STAG2: Mechanistic insights into ARID1B-related coffin-siris syndrome.

ARID1B regulates sphingolipid metabolism and myelin development via STAG2: Mechanistic insights into ARID1B-related coffin-siris syndrome.

Journal: Cellular signalling

Published: November 26, 2025

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing.

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing.

Journal: Human mutation

Published: July 30, 2025

Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features.

Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features.

Journal: Molecular cytogenetics

Published: May 07, 2025

A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7.

A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7.

Journal: Molecular syndromology

Published: March 04, 2025

A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability.

A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability.

Journal: Orphanet journal of rare diseases

Published: May 16, 2024

High-throughput primer design by scoring in piecewise logistic model for multiple polymerase chain reaction variants.

High-throughput primer design by scoring in piecewise logistic model for multiple polymerase chain reaction variants.

Journal: Scientific reports

Published: August 16, 2022

Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome.

Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome.

Journal: Frontiers in pediatrics

Published: October 21, 2021

Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia.

Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia.

Journal: Frontiers in pediatrics

Published: September 14, 2021

Integrated miRNA-mRNA Expression Profiles Revealing Key Molecules in Ovarian Cancer Based on Bioinformatics Analysis.

Integrated miRNA-mRNA Expression Profiles Revealing Key Molecules in Ovarian Cancer Based on Bioinformatics Analysis.

Journal: BioMed research international

Published: December 28, 2020

A Cell-free DNA Barcode-Enabled Single-Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β-Thalassemia.

A Cell-free DNA Barcode-Enabled Single-Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β-Thalassemia.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: December 27, 2018

Showing 1-11 of 11

Last Updated: 09/26/2026