Associated Papers
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808701 (PubMed )
Supplement: media-2.xlsx › T6
In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.
Abbasi S et al.
Journal of Cardiovascular and Thoracic Research, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1
A novel mutation in exon 1 of GATA4 in Egyptian patients with congenital heart disease.
Shaker O et al.
Turkish Journal of Medical Sciences, 2017
A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.
Zhang X et al.
Plos One, 2016
27391137 (PubMed )
Supplement: pone.0158904.s003.pdf
Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.
Prendiville T et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Identification of functional mutations in GATA4 in patients with congenital heart disease.
Wang E et al.
Plos One, 2013
23626780 (PubMed )
Supplement: pone.0062138.s004.xlsx › information_of_all_mutations
GATA4 mutations in 357 unrelated patients with congenital heart malformation.
Butler TL et al.
Genetic Testing and Molecular Biomarkers, 2010
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