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DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Vos, Niels; Reilly, Jack; Elting, Mariet W; Campeau, Philippe M; Coman, David; Stark, Zornitza; Tan, Tiong Yang; Amor, David J; Kaur, Simran; StJohn, Miya; Morgan, Angela T; Kamien, Benjamin A; Patel, Chirag; Tedder, Matthew L; Merla, Giuseppe; Prontera, Paolo; Castori, Marco; Muru, Kai; Collins, Felicity; Christodoulou, John; Smith, Janine; Zeev, Bruria Ben; Murgia, Alessandra; Leonardi, Emanuela; Esber, Natacha; Martinez-Monseny, Antonio; Casas-Alba, Didac; Wallis, Matthew; Mannens, Marcel; Levy, Michael A; Relator, Raissa; Alders, Marielle; Sadikovic, Bekim.
  • Vos N; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.
  • Reilly J; Department of Pathology & Laboratory Medicine, Western University, London, ON, N6A 5C1, Canada.
  • Elting MW; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.
  • Campeau PM; Department of Pediatrics, Sainte-Justine UHC & University of Montreal, Montreal, QC, H3T 1C5, Canada.
  • Coman D; Department of Metabolic Medicine, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.
  • Stark Z; School of Medicine, University of Queensland, Brisbane, QLD 4072, Australia.
  • Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, 3052, Australia.
  • Amor DJ; Department of Paediatrics, University of Melbourne, Grattan Street, Parkville, Victoria, 3010, Australia.
  • Kaur S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, 3052, Australia.
  • StJohn M; Department of Paediatrics, University of Melbourne, Grattan Street, Parkville, Victoria, 3010, Australia.
  • Morgan AT; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.
  • Kamien BA; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia.
  • Patel C; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.
  • Tedder ML; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia.
  • Merla G; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.
  • Prontera P; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia.
  • Castori M; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.
  • Muru K; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia.
  • Collins F; Genetics Services of Western Australia, Perth, 6008, Western Australia.
  • Christodoulou J; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Herston, QLD 4006, Australia.
  • Smith J; Greenwood Genetic Center, Greenwood, SC 29646, United States.
  • Zeev BB; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo (Foggia), Italy.
  • Murgia A; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federica II, 5 - 80131, Naples, Italy.
  • Leonardi E; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Piazza dell'Università, 1, 06123, Perugia PG, Italy.
  • Esber N; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo (Foggia), Italy.
  • Martinez-Monseny A; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Riia 23b, 51010, Tartu, Estonia.
  • Casas-Alba D; Discipline of Child and Adolescent Health and Genomic Medicine, Sydney Medical School, Sydney University, Sydney, Camperdown NSW, 2050, Australia.
  • Wallis M; Department of Clinical Genetics, Western Sydney Genetics Program, Children's Hospital at Westmead, Randwick NSW, 2031, Australia.
  • Mannens M; Department of Clinical Genetics, Western Sydney Genetics Program, Children's Hospital at Westmead, Randwick NSW, 2031, Australia.
  • Levy MA; Sydney Children's Hospitals Network-Westmead, Randwick NSW, 2031, Australia.
  • Relator R; University of Sydney, Camperdown NSW, 2006, Australia.
  • Alders M; Sackler School of Medicine Tel Aviv University, Tel Aviv, 6997801, Israel.
  • Sadikovic B; Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Via Giustiniani 3, 35128, Padua, Italy.
Epigenomics ; 15(6): 351-367, 2023 03.
Article en En | MEDLINE | ID: mdl-37249002
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Metilación de ADN / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Metilación de ADN / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article