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Last Posted: Jun 06, 2024

• Variants of Unknown Significance (VUS) in Maturity-Onset Diabetes of the Young (MODY): High Rate of Conundrum Resolution via VUS Reanalysis.
  Guido Alarcon et al. Horm Res Paediatr 2024
• 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
• A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms.
  Sophie Welsch et al. Diabetes Metab J 2024
• 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
• Cost-effectiveness of genetic-based screening strategies for maturity-onset diabetes of the young.
  Gábor Kovács et al. Per Med 2023
• 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
• 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
• 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)
• 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
• 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
• 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
• 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
• 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
• Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes.
  Li Meng et al. Journal of diabetes 2020 Dec
• Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.
  Bonnefond Amélie et al. Nature metabolism 2020 Oct
• Clinical experience from a regional monogenic diabetes referral centre in Singapore.
  Fen Ang Su et al. Diabetes research and clinical practice 2020 Aug 108390
• 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
• 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)
• Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators.
  Guan Yue et al. Journal of genetic counseling 2020 Mar
• 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
• 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
• Next Generation Sequencing Targeted Gene Panel in Greek MODY patients increases diagnostic accuracy.
  Tatsi Elizabeth Barbara et al. Pediatric diabetes 2019 Oct
• Monogenic Forms of Diabetes Mellitus.
  Gaál Zsolt et al. Experientia supplementum (2012) 2019 111385-416
• 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
• 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
• Screening for monogenic diabetes in primary care.
  Baldacchino Ian et al. Primary care diabetes 2019 Jun
• 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
• Monogenic diabetes in adults: what are the new developments?
  Owen Katharine R et al. Current opinion in genetics & development 2018 50103-110
• Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.
  Jing Xiang-Yi et al. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2019 Jan 1-5
• Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life.
  Johnson Stephanie R et al. Diabetes care 2018 Dec
• Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY).
  Özdemir Taha R et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Nov
• Mexican Carriers of the HNF1A p.E508K Variant Do Not Experience an Enhanced Response to Sulfonylureas.
  Martagón Alexandro J et al. Diabetes care 2018 41(8) 1726-1731
• Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort.
  Johnson Stephanie R et al. Pediatric diabetes 2018 Sep
• Traditional clinical criteria outperform high-sensitivity C-reactive protein for the screening of hepatic nuclear factor 1 alpha maturity-onset diabetes of the young among young Asians with diabetes.
  Rama Chandran Suresh et al. Therapeutic advances in endocrinology and metabolism 2018 Sep 9(9) 271-282
• 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
• CLINGEN Actionability Report for Maturity Onset Diabetes of the Young Type III - HNF1A
  ClinGen Actionability Working Group
• Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.
  Firdous Parveena et al. Frontiers in endocrinology 2018 9253
• Clinical usefulness of comprehensive genetic screening in MODY: a novel ABCC8 mutation in a previously screened family.
  Johnson Stephanie Robyn et al. Journal of diabetes 2018 May

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