Associated Papers
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.
Meinel JA et al.
Journal of Medical Genetics, 2023
36227713 (PubMed )
Supplement: jmg-2022-108635supp001.pdf
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
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
27899157 (PubMed )
Supplement: 13059_2016_1105_MOESM1_ESM.xlsx › Sheet2
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
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
Select a paper to view details