Associated Papers
Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Płoszaj T et al.
Acta Diabetologica, 2026
Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.
Zhang N et al.
Frontiers in Endocrinology, 2025
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
[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].
Pikó H et al.
Orvosi Hetilap, 2024
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
A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature.
Aversa T et al.
Genes, 2023
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Globa E et al.
Frontiers in Endocrinology, 2022
Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCs.
Choi JB et al.
Stem Cell Reports, 2021
34242618 (PubMed )
Supplement: mmc1.pdf
Lung cancer deficient in the tumor suppressor GATA4 is sensitive to TGFBR1 inhibition.
Gao L et al.
Nature Communications, 2019
Analysis of Rare Variants in the Alcohol Dependence Candidate Gene GATA4.
Degenhardt F et al.
Alcoholism, Clinical and Experimental Research, 2016
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