A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.
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| Title: | A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine. |
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| Authors: | Wang M; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada., Helal S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada., Torabi-Marashi A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada., Goodman S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada., Kallurkar P; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada., Truong TK; Center for Human Genetics & Genomics, Departments of Pediatrics and Neuroscience and Physiology, New York University Grossman School of Medicine, New York, NY 10016, USA., Mizrahi-Powell E; Center for Human Genetics & Genomics, Departments of Pediatrics and Neuroscience and Physiology, New York University Grossman School of Medicine, New York, NY 10016, USA., Evrony GD; Center for Human Genetics & Genomics, Departments of Pediatrics and Neuroscience and Physiology, New York University Grossman School of Medicine, New York, NY 10016, USA., Chacon-Fonseca I; Genetics Division, Department of Oncology, Lakeridge Health, Oshawa, ON L1G 2B9, Canada., Valenzuela Palafoll I; Clinical Genetics Area, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain., Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2R3, Canada., Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), University of Strasbourg, 67400 Illkirch, France., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada., Boerkoel CF; Sanford Imagenetics Research Center on Genomic & Molecular Medicine, Sanford Health, Sioux Falls, SD 57105, USA., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada., Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), 08950 Barcelona, Spain., Kwint M; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, 6500 HE Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, 3000 CA Rotterdam, the Netherlands., Rots D; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, 6500 HE Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, 3000 CA Rotterdam, the Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, 6500 HE Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, 3000 CA Rotterdam, the Netherlands., Wojcik MH; Center for Mendelian Genomics, Broad Institute, Cambridge, MA 02142, USA; Division of Newborn Medicine, Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School Boston, Boston, MA 02115, USA., Scherer SW; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada., Hon-Yin Chung B; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Ko JM; Department of Pediatrics, Department of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon 21565, Republic of Korea., Bjornsson HT; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; The Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, 102 Reykjavik, Iceland; Department of Genetics and Molecular Medicine, Landspitali University Hospital, 105 Reykjavik, Iceland., Harris JR; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Kennedy Krieger Institute, Baltimore, MD 21046, USA., Choufani S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada., Weksberg R; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address: rweksb@sickkids.ca. |
| Source: | American journal of human genetics [Am J Hum Genet] 2026 Jun 04; Vol. 113 (6), pp. 1233-1252. Date of Electronic Publication: 2026 May 13. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42134323 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Wang+M%22">Wang M</searchLink>; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.<br /><searchLink fieldCode="AU" term="%22Helal+S%22">Helal S</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.<br /><searchLink fieldCode="AU" term="%22Torabi-Marashi+A%22">Torabi-Marashi A</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.<br /><searchLink fieldCode="AU" term="%22Goodman+S%22">Goodman S</searchLink>; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.<br /><searchLink fieldCode="AU" term="%22Kallurkar+P%22">Kallurkar P</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.<br /><searchLink fieldCode="AU" term="%22Truong+TK%22">Truong TK</searchLink>; Center for Human Genetics & Genomics, Departments of Pediatrics and Neuroscience and Physiology, New York University Grossman School of Medicine, New York, NY 10016, USA.<br /><searchLink fieldCode="AU" term="%22Mizrahi-Powell+E%22">Mizrahi-Powell E</searchLink>; Center for Human Genetics & Genomics, Departments of Pediatrics and Neuroscience and Physiology, New York University Grossman School of Medicine, New York, NY 10016, USA.<br /><searchLink fieldCode="AU" term="%22Evrony+GD%22">Evrony GD</searchLink>; Center for Human Genetics & Genomics, Departments of Pediatrics and Neuroscience and Physiology, New York University Grossman School of Medicine, New York, NY 10016, USA.<br /><searchLink fieldCode="AU" term="%22Chacon-Fonseca+I%22">Chacon-Fonseca I</searchLink>; Genetics Division, Department of Oncology, Lakeridge Health, Oshawa, ON L1G 2B9, Canada.<br /><searchLink fieldCode="AU" term="%22Valenzuela+Palafoll+I%22">Valenzuela Palafoll I</searchLink>; Clinical Genetics Area, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Kannu+P%22">Kannu P</searchLink>; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2R3, Canada.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), University of Strasbourg, 67400 Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Chitayat+D%22">Chitayat D</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.<br /><searchLink fieldCode="AU" term="%22Boerkoel+CF%22">Boerkoel CF</searchLink>; Sanford Imagenetics Research Center on Genomic & Molecular Medicine, Sanford Health, Sioux Falls, SD 57105, USA.<br /><searchLink fieldCode="AU" term="%22Mendoza-Londono+R%22">Mendoza-Londono R</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.<br /><searchLink fieldCode="AU" term="%22Ortigoza-Escobar+JD%22">Ortigoza-Escobar JD</searchLink>; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), 08950 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Kwint+M%22">Kwint M</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, 6500 HE Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, 3000 CA Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Rots+D%22">Rots D</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, 6500 HE Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, 3000 CA Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, 6500 HE Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, 3000 CA Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Wojcik+MH%22">Wojcik MH</searchLink>; Center for Mendelian Genomics, Broad Institute, Cambridge, MA 02142, USA; Division of Newborn Medicine, Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School Boston, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.<br /><searchLink fieldCode="AU" term="%22Hon-Yin+Chung+B%22">Hon-Yin Chung B</searchLink>; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Ko+JM%22">Ko JM</searchLink>; Department of Pediatrics, Department of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon 21565, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Bjornsson+HT%22">Bjornsson HT</searchLink>; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; The Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, 102 Reykjavik, Iceland; Department of Genetics and Molecular Medicine, Landspitali University Hospital, 105 Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Harris+JR%22">Harris JR</searchLink>; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Kennedy Krieger Institute, Baltimore, MD 21046, USA.<br /><searchLink fieldCode="AU" term="%22Choufani+S%22">Choufani S</searchLink>; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.<br /><searchLink fieldCode="AU" term="%22Weksberg+R%22">Weksberg R</searchLink>; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address: rweksb@sickkids.ca. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2026 Jun 04; Vol. 113 (6), pp. 1233-1252. <i>Date of Electronic Publication: </i>2026 May 13. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ajhg.2026.04.010 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1233 Titles: – TitleFull: A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Wang M – PersonEntity: Name: NameFull: Helal S – PersonEntity: Name: NameFull: Torabi-Marashi A – PersonEntity: Name: NameFull: Goodman S – PersonEntity: Name: NameFull: Kallurkar P – PersonEntity: Name: NameFull: Truong TK – PersonEntity: Name: NameFull: Mizrahi-Powell E – PersonEntity: Name: NameFull: Evrony GD – PersonEntity: Name: NameFull: Chacon-Fonseca I – PersonEntity: Name: NameFull: Valenzuela Palafoll I – PersonEntity: Name: NameFull: Kannu P – PersonEntity: Name: NameFull: Piton A – PersonEntity: Name: NameFull: Chitayat D – PersonEntity: Name: NameFull: Boerkoel CF – PersonEntity: Name: NameFull: Mendoza-Londono R – PersonEntity: Name: NameFull: Ortigoza-Escobar JD – PersonEntity: Name: NameFull: Kwint M – PersonEntity: Name: NameFull: Rots D – PersonEntity: Name: NameFull: Kleefstra T – PersonEntity: Name: NameFull: Wojcik MH – PersonEntity: Name: NameFull: Scherer SW – PersonEntity: Name: NameFull: Hon-Yin Chung B – PersonEntity: Name: NameFull: Ko JM – PersonEntity: Name: NameFull: Bjornsson HT – PersonEntity: Name: NameFull: Harris JR – PersonEntity: Name: NameFull: Choufani S – PersonEntity: Name: NameFull: Weksberg R IsPartOfRelationships: – BibEntity: Dates: – D: 04 M: 06 Text: 2026 Jun 04 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1537-6605 Numbering: – Type: volume Value: 113 – Type: issue Value: 6 Titles: – TitleFull: American journal of human genetics Type: main |
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