Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) Disease.

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Bibliographic Details
Title: Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) Disease.
Authors: Ritter DI; Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics. Electronic address: dritter@bcm.edu., Badduke C; PreventionGenetics part of Exact Sciences, Marshfield, WI., Doonanco K; GeneDx, Gaithersburg, MD., Kang HC; Labcorp Genetics (formerly Invitae Corporation), Burlington, NC., Pesaran T; Ambry Genetics, Aliso Viejo, CA., Ridd S; University Health Network, Toronto, Ontario, Canada., Sheen C; University Health Network, Toronto, Ontario, Canada., Farncombe KM; University Health Network, Toronto, Ontario, Canada., Giles RH; VHL Europa, the Netherlands., Luo M; Children's Hospital of Philadelphia, Philadelphia, PA., Pipko N; The Hospital For Sick Children, Toronto, Canada., Tsoi CT; The Hospital For Sick Children, Toronto, Canada., McGoldrick K; Ambry Genetics, Aliso Viejo, CA., Mighton C; Broad Institute of MIT and Harvard, Cambridge, USA and Massachusetts General Hospital., Abu Kashabeh RH; Department of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Amman, Jordan., Sanabria-Salas MC; University Health Network, Toronto, Ontario, Canada., Talab Y; Department of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Amman, Jordan., Deka KB; University Health Network, Toronto, Ontario, Canada., Jacobs MF; University of Michigan, Ann Arbor, MI, USA., Tuzlali E; Ontario Institute for Cancer Network, Toronto, Ontario, Canada., Gallinger B; The Hospital For Sick Children, Toronto, Canada., Griffith M; Washington University School of Medicine, Saint Louis, MO, USA., Krysiak K; Washington University School of Medicine, Saint Louis, MO, USA., Machado J; Exact Sciences Laboratories, Madison, Wisconsin, USA., Maher ER; Aston Medical School, Aston University, Birmingham and Department of Genomic Medicine, University of Cambridge, Cambridge, UK., Tirosh A; Neuroendocrine Oncology Unit, Sheba Medical Center and Tel Aviv University Faculty of Medicine, Ramat Gan, Israel., Kim RH; University Health Network, Toronto, Ontario, Canada.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 May 01, pp. 102589. Date of Electronic Publication: 2026 May 01.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1016/j.gim.2026.102589