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Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.

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Title: Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.
Authors: Männistö JME; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.; Kuopio Pediatric Research Unit, Faculty of Health Sciences, School of Medicine, University of Eastern Finland, 70211 Kuopio, Finland., Hopkins JJ; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Hewat TI; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Nasser F; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Burrage J; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Dastamani A; Endocrinology Department, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Mirante A; Pediatric Endocrinology, Hospital Pediátrico de Coimbra, ULS de Coimbra, 3000-602 Coimbra, Portugal., Murphy N; Department of Paediatric Endocrinology, CHI Temple St, Dublin, D01 XD99, Ireland., Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada., Johnson MB; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Laver TW; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Weymouth L; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Houghton JAL; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK., Wakeling MN; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 5C1, Canada., Dempster EL; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Flanagan SE; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.
Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2025 Apr 22; Vol. 110 (5), pp. e1524-e1530.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.
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  Data: <searchLink fieldCode="AU" term="%22Männistö+JME%22">Männistö JME</searchLink>; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.; Kuopio Pediatric Research Unit, Faculty of Health Sciences, School of Medicine, University of Eastern Finland, 70211 Kuopio, Finland.<br /><searchLink fieldCode="AU" term="%22Hopkins+JJ%22">Hopkins JJ</searchLink>; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Hewat+TI%22">Hewat TI</searchLink>; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Nasser+F%22">Nasser F</searchLink>; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Burrage+J%22">Burrage J</searchLink>; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Dastamani+A%22">Dastamani A</searchLink>; Endocrinology Department, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.<br /><searchLink fieldCode="AU" term="%22Mirante+A%22">Mirante A</searchLink>; Pediatric Endocrinology, Hospital Pediátrico de Coimbra, ULS de Coimbra, 3000-602 Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Murphy+N%22">Murphy N</searchLink>; Department of Paediatric Endocrinology, CHI Temple St, Dublin, D01 XD99, Ireland.<br /><searchLink fieldCode="AU" term="%22Rzasa+J%22">Rzasa J</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada.<br /><searchLink fieldCode="AU" term="%22Kerkhof+J%22">Kerkhof J</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada.<br /><searchLink fieldCode="AU" term="%22Relator+R%22">Relator R</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada.<br /><searchLink fieldCode="AU" term="%22Johnson+MB%22">Johnson MB</searchLink>; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Laver+TW%22">Laver TW</searchLink>; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Weymouth+L%22">Weymouth L</searchLink>; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Houghton+JAL%22">Houghton JAL</searchLink>; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Wakeling+MN%22">Wakeling MN</searchLink>; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Sadikovic+B%22">Sadikovic B</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 5C1, Canada.<br /><searchLink fieldCode="AU" term="%22Dempster+EL%22">Dempster EL</searchLink>; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.<br /><searchLink fieldCode="AU" term="%22Flanagan+SE%22">Flanagan SE</searchLink>; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.
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