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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm, Heidi L; Alaimo, Joseph T; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G; Chao, Elizabeth C; Chen, Elaine; Clifford, Jacob; Cohen, Ana S A; Conlin, Laura K; Das, Soma; Davis, Kyle W; Del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B; Harrison, Steven M; Hatchell, Kathryn E; Dyer, Lindsay Havens; Hoang, Lily U; Holt, James M; Jobanputra, Vaidehi; Karbassi, Izabela D; Kearney, Hutton M; Kelly, Melissa A; Kelly, Jacob M; Kluge, Michelle L; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S; Marshall, Christian R; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K; Paolucci, Sarah A; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J; Retterer, Kyle.
Afiliación
  • Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Pathology, Harvard Medical School, Boston, MA. Electronic address: hrehm@mgh.harvard.edu.
  • Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.
  • Aradhya S; Invitae, San Francisco, CA; Department of Pathology, Stanford University School of Medicine, Palo Alto, CA.
  • Bayrak-Toydemir P; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT.
  • Best H; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT.
  • Brandon R; GeneDx, LLC, Gaithersburg, MD.
  • Buchan JG; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA.
  • Chao EC; Ambry Genetics, Aliso Viejo, CA.
  • Chen E; Invitae, San Francisco, CA.
  • Clifford J; Ambry Genetics, Aliso Viejo, CA.
  • Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.
  • Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA; Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA.
  • Das S; Human Genetics, University of Chicago, Chicago, IL.
  • Davis KW; Variantyx, Framingham, MA.
  • Del Gaudio D; Human Genetics, University of Chicago, Chicago, IL.
  • Del Viso F; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.
  • DiVincenzo C; Quest Diagnostics, Marlborough, MA.
  • Eisenberg M; Women's Health and Genetics, Labcorp, Research Triangle Park, NC.
  • Guidugli L; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Hammer MB; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Harrison SM; Ambry Genetics, Aliso Viejo, CA.
  • Hatchell KE; Invitae, San Francisco, CA.
  • Dyer LH; GeneDx, LLC, Gaithersburg, MD.
  • Hoang LU; Ambry Genetics, Aliso Viejo, CA.
  • Holt JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL.
  • Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.
  • Karbassi ID; Quest Diagnostics, Marlborough, MA.
  • Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
  • Kelly MA; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL.
  • Kelly JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL.
  • Kluge ML; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
  • Komala T; Ambry Genetics, Aliso Viejo, CA.
  • Kruszka P; GeneDx, LLC, Gaithersburg, MD.
  • Lau L; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Lebo MS; Pathology, Harvard Medical School, Boston, MA; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA.
  • Marshall CR; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
  • McKnight D; Invitae, San Francisco, CA.
  • McWalter K; GeneDx, LLC, Gaithersburg, MD.
  • Meng Y; Fulgent Genetics, Temple City, CA.
  • Nagan N; Women's Health and Genetics, Labcorp, Westborough, MA.
  • Neckelmann CS; Fulgent Genetics, Temple City, CA.
  • Neerman N; Variantyx, Framingham, MA.
  • Niu Z; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
  • Paolillo VK; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.
  • Paolucci SA; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA.
  • Perry D; Illumina, Inc, San Diego, CA.
  • Pesaran T; Ambry Genetics, Aliso Viejo, CA.
  • Radtke K; Ambry Genetics, Aliso Viejo, CA.
  • Rasmussen KJ; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
  • Retterer K; GeneDx, LLC, Gaithersburg, MD.
Genet Med ; 25(12): 100947, 2023 Dec.
Article en En | MEDLINE | ID: mdl-37534744
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Predisposición Genética a la Enfermedad Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Predisposición Genética a la Enfermedad Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article