Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
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| Title: | Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. |
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| Authors: | Fortuno C; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Lee K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Olivier M; International Agency for Research on Cancer, Lyon, France., Pesaran T; Ambry Genetics, Aliso Viejo, California, USA., Mai PL; Magee-Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA., de Andrade KC; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA., Attardi LD; Departments of Radiation-Oncology and Genetics, Stanford University, Stanford, California, USA., Crowley S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Evans DG; University of Manchester, Manchester, UK., Feng BJ; University of Utah, Salt Lake City, Utah, USA., Foreman AKM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA., Huether R; Tempus, Chicago, Illinois, USA., James PA; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia., McGoldrick K; Ambry Genetics, Aliso Viejo, California, USA., Mester J; GeneDx, Gaithersburg, Maryland, USA., Seifert BA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Slavin TP; City of Hope, Duarte, California, USA., Witkowski L; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Maryland, USA., Zhang L; Memorial Sloan Kettering Cancer Center, New York, New York, USA., Plon SE; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA., Spurdle AB; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA. |
| Corporate Authors: | ClinGen TP53 Variant Curation Expert Panel |
| Source: | Human mutation [Hum Mutat] 2021 Mar; Vol. 42 (3), pp. 223-236. Date of Electronic Publication: 2020 Dec 25. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33300245 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Fortuno+C%22">Fortuno C</searchLink>; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Lee+K%22">Lee K</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Olivier+M%22">Olivier M</searchLink>; International Agency for Research on Cancer, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Pesaran+T%22">Pesaran T</searchLink>; Ambry Genetics, Aliso Viejo, California, USA.<br /><searchLink fieldCode="AU" term="%22Mai+PL%22">Mai PL</searchLink>; Magee-Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22de+Andrade+KC%22">de Andrade KC</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Attardi+LD%22">Attardi LD</searchLink>; Departments of Radiation-Oncology and Genetics, Stanford University, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22Crowley+S%22">Crowley S</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Evans+DG%22">Evans DG</searchLink>; University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Feng+BJ%22">Feng BJ</searchLink>; University of Utah, Salt Lake City, Utah, USA.<br /><searchLink fieldCode="AU" term="%22Foreman+AKM%22">Foreman AKM</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Frone+MN%22">Frone MN</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Huether+R%22">Huether R</searchLink>; Tempus, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22James+PA%22">James PA</searchLink>; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22McGoldrick+K%22">McGoldrick K</searchLink>; Ambry Genetics, Aliso Viejo, California, USA.<br /><searchLink fieldCode="AU" term="%22Mester+J%22">Mester J</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Seifert+BA%22">Seifert BA</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Slavin+TP%22">Slavin TP</searchLink>; City of Hope, Duarte, California, USA.<br /><searchLink fieldCode="AU" term="%22Witkowski+L%22">Witkowski L</searchLink>; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink>; Memorial Sloan Kettering Cancer Center, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Plon+SE%22">Plon SE</searchLink>; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Spurdle+AB%22">Spurdle AB</searchLink>; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Savage+SA%22">Savage SA</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22ClinGen+TP53+Variant+Curation+Expert+Panel%22">ClinGen TP53 Variant Curation Expert Panel</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2021 Mar; Vol. 42 (3), pp. 223-236. <i>Date of Electronic Publication: </i>2020 Dec 25. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33300245 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/humu.24152 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 223 Titles: – TitleFull: Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Fortuno C – PersonEntity: Name: NameFull: Lee K – PersonEntity: Name: NameFull: Olivier M – PersonEntity: Name: NameFull: Pesaran T – PersonEntity: Name: NameFull: Mai PL – PersonEntity: Name: NameFull: de Andrade KC – PersonEntity: Name: NameFull: Attardi LD – PersonEntity: Name: NameFull: Crowley S – PersonEntity: Name: NameFull: Evans DG – PersonEntity: Name: NameFull: Feng BJ – PersonEntity: Name: NameFull: Foreman AKM – PersonEntity: Name: NameFull: Frone MN – PersonEntity: Name: NameFull: Huether R – PersonEntity: Name: NameFull: James PA – PersonEntity: Name: NameFull: McGoldrick K – PersonEntity: Name: NameFull: Mester J – PersonEntity: Name: NameFull: Seifert BA – PersonEntity: Name: NameFull: Slavin TP – PersonEntity: Name: NameFull: Witkowski L – PersonEntity: Name: NameFull: Zhang L – PersonEntity: Name: NameFull: Plon SE – PersonEntity: Name: NameFull: Spurdle AB – PersonEntity: Name: NameFull: Savage SA IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: 2021 Mar Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1098-1004 Numbering: – Type: volume Value: 42 – Type: issue Value: 3 Titles: – TitleFull: Human mutation Type: main |
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