Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease.
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| Title: | Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease. |
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| Authors: | Ritter DI; Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX. 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, ON, Canada., Sheen C; University Health Network, Toronto, ON, Canada., Farncombe KM; University Health Network, Toronto, ON, Canada., Giles RH; VHL Europa, The Netherlands., Luo M; Children's Hospital of Philadelphia, Philadelphia, PA., Pipko N; The Hospital For Sick Children, Toronto, ON, Canada., Tsoi CT; The Hospital For Sick Children, Toronto, ON, Canada., McGoldrick K; Ambry Genetics, Aliso Viejo, CA., Mighton C; Broad Institute of MIT and Harvard, Cambridge MA, and Massachusetts General Hospital, Boston, MA., Abu Kashabeh R; Department of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Amman, Jordan., Sanabria-Salas MC; University Health Network, Toronto, ON, Canada., Talab Y; Department of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Amman, Jordan., Deka KB; University Health Network, Toronto, ON, Canada., Jacobs MF; University of Michigan, Ann Arbor, MI., Tuzlali E; Ontario Institute for Cancer Research, Toronto, ON, Canada., Gallinger B; The Hospital For Sick Children, Toronto, ON, Canada., Griffith M; Washington University School of Medicine, Saint Louis, MO., Krysiak K; Washington University School of Medicine, Saint Louis, MO., Machado J; Exact Sciences Laboratories, Madison, WI., Maher ER; Aston Medical School, Aston University, Birmingham, United Kingdom and Department of Genomic Medicine, University of Cambridge, Cambridge, United Kingdom., Tirosh A; Neuroendocrine Oncology Unit, Sheba Medical Center and Tel Aviv University Faculty of Medicine, Ramat Gan, Israel., Kim RH; University Health Network, Toronto, ON, Canada; The Hospital For Sick Children, Toronto, ON, Canada; Ontario Institute for Cancer Research, Toronto, ON, Canada. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 May 01; Vol. 28 (8), 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 |
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