Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
Malcher A et al.
Andrology, 2022
Genetic insights into non-syndromic Tetralogy of Fallot.
Althali NJ et al.
Frontiers in Physiology, 2022
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
Lehmkuhl P et al.
Cellular & Molecular Immunology, 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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.
Kammoun M et al.
Prenatal Diagnosis, 2018
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
Priest JR et al.
Plos Genetics, 2016
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
D'Alessandro LC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.
Longoni M et al.
Clinical Genetics, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.
Longoni M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
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
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
De Luca A et al.
Clinical Genetics, 2011
Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF).
Lee JS et al.
Journal of Animal Breeding and Genetics = Zeitschrift Fur Tierzuchtung Und Zuchtungsbiologie, 2009
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
Pizzuti A et al.
Human Mutation, 2003