Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.

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Title: Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Authors: Płoszaj T; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland. tomasz.ploszaj@umed.lodz.pl., Skoczylas S; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Gadzalska K; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Gorządek M; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Jakiel P; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Juścińska E; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Borowiec M; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Mojsak P; Clinical Research Centre - Metabolomics and Proteomics Laboratory, Medical University of Bialystok, Białystok, Poland., Oto A; Student Society for Genetic Counseling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Ołubiec A; Student Society for Genetic Counseling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Chobot A; Department of Pediatrics, Institute of Medical Sciences, University of Opole, Opole, Poland., Cypryk K; Department of Internal Diseases and Diabetology, Medical University of Lodz, Lodz, Poland., Głowińska-Olszewska B; Department of Pediatrics, Endocrinology, Diabetology with Cardiology Division, Medical University of Bialystok, Bialystok, Poland., Iwaniszewska B; Division of Pediatrics, Pediatric Endocrinology and Pediatric Neurology, Ludwik Rydygier's Provincial Hospital in Torun, Children's Hospital, Torun, Poland., Jarosz-Chobot P; Department of Children's Diabetology and Lifestyle Medicine, Medical University of Silesia, Katowice, Poland., Kasznicki J; Clinic of Internal Medicine, Diabetology and Clinical Pharmacology, Medical University of Lodz, Lodz, Poland., Kowalska I; Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland., Mazur A; Department of Pediatrics, Pediatric Endocrinology and Diabetes, The University of Rzeszow, Faculty of Medicine, Rzeszow, Poland., Moczulski D; Department of Internal Medicine and Nephrodiabetology, Medical University of Lodz, Lodz, Poland., Myśliwiec M; Medical University of Gdansk, Department of Pediatric Diabetology and Endocrinology, Gdansk, Poland., Nazim J; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Krakow, Poland., Robak-Kontna K; Outpatient Clinic for Pediatric Diabetology, Regional Children's Hospital in Bydgoszcz, Bydgoszcz, Poland., Skowrońska B; Department of Pediatric Diabetes and Obesity, Poznan University of Medical Sciences, Poznan, Poland., Stawerska R; Department of Developmental Age and Adult Endocrinology, Medical University of Lodz, Lodz, Poland., Szadkowska A; Department of Pediatrics, Diabetology, Endocrinology and Nephrology, Medical University of Lodz, Lodz, Poland., Urbańska-Kosińska M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Walczak M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, Szczecin, Poland., Zmysłowska A; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.
Source: Acta diabetologica [Acta Diabetol] 2026 May; Vol. 63 (5), pp. 839-848. Date of Electronic Publication: 2026 Feb 13.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9200299 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-5233 (Electronic) Linking ISSN: 09405429 NLM ISO Abbreviation: Acta Diabetol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1432-5233
DOI:10.1007/s00592-026-02653-0