Yongjia Yang

86 Ziyuan Road
Changsha, China

Last Updated: 09/26/2026

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Found 33 publications

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

Journal: Journal of medical genetics

Published: March 12, 2026

AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases.

AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases.

Journal: Journal of medical genetics

Published: April 29, 2025

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 14, 2025

Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 19, 2024

Advances in genetic research on Non-syndromic congenital joint synostosis

Advances in genetic research on Non-syndromic congenital joint synostosis

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

Published: August 03, 2024

Familial pancreatitis associated with a splice-site variant in CPA1.

Familial pancreatitis associated with a splice-site variant in CPA1.

Journal: Gut

Published: May 10, 2024

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192.

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192.

Journal: HGG advances

Published: August 03, 2023

Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants.

Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants.

Journal: Frontiers in genetics

Published: February 13, 2023

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.

Journal: Journal of clinical immunology

Published: August 30, 2022

Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea.

Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea.

Journal: Frontiers in genetics

Published: February 10, 2022

Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.

Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.

Journal: Frontiers in genetics

Published: November 29, 2021

Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.

Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.

Journal: Human genetics

Published: November 10, 2021

Showing 1-12 of 33

Last Updated: 09/26/2026