Associated Papers
Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.
Tu LT et al.
Diagnostics (basel, Switzerland), 2025
Identification of a novel TOP2B::AFF2 fusion gene in B-cell acute lymphoblastic leukemia.
Liu T et al.
Scientific Reports, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R et al.
International Journal of Molecular Sciences, 2024
Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1.
Cheng Y et al.
Orphanet Journal of Rare Diseases, 2021
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
van den Bergen JA et al.
Molecular Genetics & Genomic Medicine, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.
Zhang W et al.
Molecular Genetics & Genomic Medicine, 2019
Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect.
Hu P et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2018
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Robevska G et al.
Human Mutation, 2018
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.
Longoni M et al.
Clinical Genetics, 2015
Identification of novel significant variants of ZFPM2/FOG2 in non-syndromic Tetralogy of Fallot and double outlet right ventricle in a Chinese Han population.
Huang X et al.
Molecular Biology Reports, 2014
Novel missense variants of ZFPM2/FOG2 identified in conotruncal heart defect patients do not impair interaction with GATA4.
Zhang W et al.
Plos One, 2014
Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle.
Tan ZP et al.
Clinical Genetics, 2012
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
Wat MJ et al.
Journal of Medical Genetics, 2011
Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.
Bleyl SB et al.
European Journal of Human Genetics : Ejhg, 2007
Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations.
Brady PD et al.
European Journal of Medical Genetics, 0