Associated Papers
Genotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance of GCK-MODY
Kayaş L et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Carrera P et al.
Diabetologia, 2023
Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.
Schwab C et al.
Leukemia, 2023
36550215 (PubMed )
Supplement: 41375_2022_1799_MOESM1_ESM.pdf
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
Unique roles of rare variants in the genetics of complex diseases in humans.
Momozawa Y et al.
Journal of Human Genetics, 2021
Rare genetic variants in systemic autoimmunity.
Jiang SH et al.
Immunology and Cell Biology, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
Jiang SH et al.
Nature Communications, 2019
Age-related mutations and chronic myelomonocytic leukemia.
Mason CC et al.
Leukemia, 2016
26648538 (PubMed )
Supplement: 41375_2016_BFleu2015337_MOESM120_ESM.xlsx › ST10
The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations.
Tatsi C et al.
Pediatric Diabetes, 2013
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