Associated Papers
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 2023
37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.
Çubuk H et al.
The Protein Journal, 2021
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S et al.
American Journal of Human Genetics, 2020
Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations.
Alvelos MI et al.
Journal of Clinical Medicine, 2020
Immunogenicity and Immune Silence in Human Cancer.
Yarmarkovich M et al.
Frontiers in Immunology, 2020
32256484 (PubMed )
Supplement: Table_4.XLSX › TCGA_HLAs_and_mutations
Targeted next-generation sequencing for molecular diagnosis of endometriosis-associated ovarian cancer.
Er TK et al.
Journal of Molecular Medicine (berlin, Germany), 2016
A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome.
Haaland WC et al.
Diabetes Care, 2009
Low prevalence of MODY2 and MODY3 mutations in Brazilian individuals with clinical MODY phenotype.
Furuzawa GK et al.
Diabetes Research and Clinical Practice, 2008
The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.
Bellanné-Chantelot C et al.
Diabetes, 2008
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