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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Diabetes
Last data update: May 16, 2024
. (Total: 63877 Documents since 2012)
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Implementing genetic testing in diabetes: Knowledge, perceptions of healthcare professionals, and barriers in a developing country.
Williams O Balogun et al. Popul Med 2024 6
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A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms.
Sophie Welsch et al. Diabetes Metab J 2024
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Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
Sunita M C De Sousa et al. Acta Diabetol 2023
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Cost-effectiveness of genetic-based screening strategies for maturity-onset diabetes of the young.
Gábor Kovács et al. Per Med 2023
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Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand.
Francesca Harrington et al. Front Endocrinol (Lausanne) 2023 141116880
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Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry.
Forough Noohi et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100019
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The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study.
Elashi Asma A et al. International journal of molecular sciences 2023 24(1)
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Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options
H Younis et al, J Per Med, October 25, 2022
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford Jennifer L et al. Nature communications 2022 13(1) 5106
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Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population.
Rafique Ibrar et al. World journal of diabetes 2021 12(11) 1957-1966
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The clinical characteristics and mutation search within monogenic diabetes genes in type 1 diabetes patients with long-term disease and preserved kidney function.
Hohendorff Jerzy et al. Polish archives of internal medicine 2021
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Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic.
Al-Kandari Hessa et al. Scientific reports 2021 11(1) 16060
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Monogenic Diabetes in Youth With Presumed Type 2 Diabetes: Results From the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration.
Todd Jennifer N et al. Diabetes care 2021
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Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes.
Li Meng et al. Journal of diabetes 2020 Dec
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Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.
Bonnefond Amélie et al. Nature metabolism 2020 Oct
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Clinical experience from a regional monogenic diabetes referral centre in Singapore.
Fen Ang Su et al. Diabetes research and clinical practice 2020 Aug 108390
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A new screening strategy and whole-exome sequencing for the early diagnosis of maturity-onset diabetes of the young.
Liu Yue et al. Diabetes/metabolism research and reviews 2020 Jul e3381
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Machine Learning for Interpretation of DNA Variants of Maturity-Onset Diabetes of the Young Genes Based on ACMG Criteria
Y Liu et al, MEDRXIV, May 23, 2020
New clinical screening strategy to distinguish HNF1A variant-induced diabetes from young early-onset type 2 diabetes in a Chinese population.
Ma Yumin et al. BMJ open diabetes research & care 2020 Mar 8(1)
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Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators.
Guan Yue et al. Journal of genetic counseling 2020 Mar
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Review of current status of molecular diagnosis and characterization of monogenic diabetes mellitus: a focus on next-generation sequencing.
Campbell Michelle Renee et al. Expert review of molecular diagnostics 2020 Feb
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The utility of MODY Probability Calculator in probands of families with early-onset autosomal dominant diabetes from Poland.
Hohendorff Jerzy et al. Minerva medica 2019 Dec 110(6) 499-506
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Next Generation Sequencing Targeted Gene Panel in Greek MODY patients increases diagnostic accuracy.
Tatsi Elizabeth Barbara et al. Pediatric diabetes 2019 Oct
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Monogenic Forms of Diabetes Mellitus.
Gaál Zsolt et al. Experientia supplementum (2012) 2019 111385-416
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The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing.
GoodSmith Matthew S et al. Diabetes care 2019 Sep
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How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.
Vaxillaire Martine et al. Current diabetes reports 2019 Aug 19(9) 79
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The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.
Komazec Jovana et al. Endokrynologia Polska 2019 70(1) 28-36
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CLINGEN Actionability Report for Maturity Onset Diabetes of the Young Type III - HNF1A
ClinGen Actionability Working Group
Screening for monogenic diabetes in primary care.
Baldacchino Ian et al. Primary care diabetes 2019 Jun
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Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing.
Dallali Hamza et al. Acta diabetologica 2019 May 56(5) 515-523
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 16, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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