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

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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
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  Data: Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) Disease.
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  Data: <searchLink fieldCode="AU" term="%22Ritter+DI%22">Ritter DI</searchLink>; Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics. Electronic address: dritter@bcm.edu.<br /><searchLink fieldCode="AU" term="%22Badduke+C%22">Badduke C</searchLink>; PreventionGenetics part of Exact Sciences, Marshfield, WI.<br /><searchLink fieldCode="AU" term="%22Doonanco+K%22">Doonanco K</searchLink>; GeneDx, Gaithersburg, MD.<br /><searchLink fieldCode="AU" term="%22Kang+HC%22">Kang HC</searchLink>; Labcorp Genetics (formerly Invitae Corporation), Burlington, NC.<br /><searchLink fieldCode="AU" term="%22Pesaran+T%22">Pesaran T</searchLink>; Ambry Genetics, Aliso Viejo, CA.<br /><searchLink fieldCode="AU" term="%22Ridd+S%22">Ridd S</searchLink>; University Health Network, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Sheen+C%22">Sheen C</searchLink>; University Health Network, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Farncombe+KM%22">Farncombe KM</searchLink>; University Health Network, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Giles+RH%22">Giles RH</searchLink>; VHL Europa, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Luo+M%22">Luo M</searchLink>; Children's Hospital of Philadelphia, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Pipko+N%22">Pipko N</searchLink>; The Hospital For Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Tsoi+CT%22">Tsoi CT</searchLink>; The Hospital For Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22McGoldrick+K%22">McGoldrick K</searchLink>; Ambry Genetics, Aliso Viejo, CA.<br /><searchLink fieldCode="AU" term="%22Mighton+C%22">Mighton C</searchLink>; Broad Institute of MIT and Harvard, Cambridge, USA and Massachusetts General Hospital.<br /><searchLink fieldCode="AU" term="%22Abu+Kashabeh+RH%22">Abu Kashabeh RH</searchLink>; Department of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Amman, Jordan.<br /><searchLink fieldCode="AU" term="%22Sanabria-Salas+MC%22">Sanabria-Salas MC</searchLink>; University Health Network, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Talab+Y%22">Talab Y</searchLink>; Department of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Amman, Jordan.<br /><searchLink fieldCode="AU" term="%22Deka+KB%22">Deka KB</searchLink>; University Health Network, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Jacobs+MF%22">Jacobs MF</searchLink>; University of Michigan, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Tuzlali+E%22">Tuzlali E</searchLink>; Ontario Institute for Cancer Network, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Gallinger+B%22">Gallinger B</searchLink>; The Hospital For Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Griffith+M%22">Griffith M</searchLink>; Washington University School of Medicine, Saint Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Krysiak+K%22">Krysiak K</searchLink>; Washington University School of Medicine, Saint Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Machado+J%22">Machado J</searchLink>; Exact Sciences Laboratories, Madison, Wisconsin, USA.<br /><searchLink fieldCode="AU" term="%22Maher+ER%22">Maher ER</searchLink>; Aston Medical School, Aston University, Birmingham and Department of Genomic Medicine, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Tirosh+A%22">Tirosh A</searchLink>; Neuroendocrine Oncology Unit, Sheba Medical Center and Tel Aviv University Faculty of Medicine, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Kim+RH%22">Kim RH</searchLink>; University Health Network, Toronto, Ontario, Canada.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2026 May 01, pp. 102589. <i>Date of Electronic Publication: </i>2026 May 01.
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