ArticleDiagnostics (Basel, Switzerland)2021
NGS Analysis Revealed Digenic Heterozygous
Article in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- Digenic variant interpretation with hypothesis-driven explainable AI.NAR genomics and bioinformatics · 2025Article
- In Silico Analysis Identified Putative Pathogenic Missense Single Nucleotide Polymorphisms (SNPs) in the HumanInternational journal of molecular sciences · 2025Article
- Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young.Endocrinology, diabetes & metabolism case reports · 2024Article
- An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?Acta diabetologica · 2024Article
- An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment.Italian journal of pediatrics · 2023Article
- The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy.Medicina (Kaunas, Lithuania) · 2023Article
- Meta-analysis of HNF1A-MODY3 variants among human population.Journal of diabetes and metabolic disorders · 2022Review
- Metabolic Treatment of Wolfram Syndrome.International journal of environmental research and public health · 2022Review
- An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases.Computational and structural biotechnology journal · 2022Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monogenic diabetes (MD) represents a heterogeneous group of disorders whose most frequent form is maturity-onset diabetes of the young (MODY). MD is predominantly caused by a mutation in a single gene. We report a case of a female patient with suspected MD and a positive family history for diabetes and obesity. In this patient, two gene variants have been identified by next-generation sequencing (NGS): one in the Glucokinase (
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