Associated Papers
Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.
Zhou Y et al.
Science Advances, 2025
41071877 (PubMed )
Supplement: sciadv.adt0836_tables_s1_to_s6.zip › adt0836_table_s1.xlsx › Table_S1
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.
Pan Y et al.
Translational Pediatrics, 2023
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8
Generation of an induced pluripotent stem cell line (MUSIi015-A) from a diabetic patient carrying mutations in ZYG11A (p.L475P) and GATA6 (p.E51K).
Suwanpitak S et al.
Stem Cell Research, 2022
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes.
Williams SG et al.
Journal of Human Genetics, 2022
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.
Zu B et al.
Computational and Structural Biotechnology Journal, 2021
34194672 (PubMed )
Supplement: mmc1.xlsx › S3
EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.
Jin R et al.
Frontiers in Oncology, 2021
34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR_wild-type_SCC
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.
Sharma A et al.
Elife, 2020
33054971 (PubMed )
Supplement: elife-53278-supp1.xlsx › 1B._Unique___Recurrent_Variants
From embryogenesis to adulthood: Critical role for GATA factors in heart development and function.
Whitcomb J et al.
Iubmb Life, 2020
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Škorić-Milosavljević D et al.
American Journal of Medical Genetics. Part A, 2019
Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects.
Zhang E et al.
Gene, 2018
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
Wang X et al.
Molecular Medicine Reports, 2014
Select a paper to view details