Zobrazeno 1 - 10 of 251 pro vyhledávání: '"Tudini E"'
3
Akademický článek
Consultation informs strategies to improve functional evidence use in variant classification.
Autor: Villani RM, Terrill B, Tudini E, McKenzie ME, Cliffe CC, Hahn CN, Lundie B, Mattiske T, Matotek E, McEwen AE, Nickerson SL, Breen J, Fowler DM, Christodoulou J, Starita L, Rubin AF, Spurdle AB
Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Dec 06. Date of Electronic Publication: 2024 Dec 06.
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4
Akademický článek
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.
Autor: Best S; Australian Genomics, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Victorian Comprehensive Cancer Centre Alliance, Melbourne, VIC, Australia., Fehlberg Z; Australian Genomics, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Richards C; Centre for Population Genomics, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Quinn MCJ; Australian Genomics, Melbourne, VIC, Australia.; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia., Lunke S; University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Spurdle AB; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Kassahn KS; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia., Vears DF; University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Goranitis I; Australian Genomics, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia., Lynch F; University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Robertson A; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; The University of Queensland, Brisbane, QLD, Australia.; The Genomic Institute, Department of Health, Queensland Government, Brisbane, QLD, Australia., Tudini E; Australian Genomics, Melbourne, VIC, Australia.; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Christodoulou J; University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Scott H; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia., McGaughran J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.; The University of Queensland, Brisbane, QLD, Australia., Stark Z; Australian Genomics, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.; University of Melbourne, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.
Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov; Vol. 32 (11), pp. 1428-1435. Date of Electronic Publication: 2024 May 25.
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Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants
Autor: Thomassen, M., Mesman, R.L.S., Hansen, T.V.O., Menendez, M., Rossing, M., Esteban-Sanchez, A., Tudini, E., Torngren, T., Parsons, M.T., Pedersen, I.S., Teo, S.H., Kruse, T.A., Moller, P., Borg, A., Jensen, U.B., Christensen, L.L., Singer, C.F., Muhr, D., Santamarina, M., Brandao, R., Andresen, B.S., Feng, B.J., Canson, D., Richardson, M.E., Karam, R., Pesaran, T., LaDuca, H., Conner, B.R., Abualkheir, N., Hoang, L., Calleja, F.M.G.R., Andrews, L., James, P.A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D.E., Walker, L.C., Engel, C., Claes, K.B.M., Machackova, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Vreeswijk, M.P.G., Hoya, M. de la, Spurdle, A.B., ENIGMA Consortium
Publikováno v: HUMAN MUTATION
Human Mutation: Variation, Informatics and Disease, 43(12), 1921-1944. WILEY-HINDAWI
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Human Mutation, 43(12), 1921-1944. Wiley
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, ENIGMA consortium, Vreeswijk, M P G, de la Hoya, M & Spurdle, A B 2022, ' Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splice event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efdcb327400da54193715f5122a2d7c3
https://doi.org/10.1002/humu.24449
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6
Akademický článek
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
Autor: Parsons MT; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia. Electronic address: michael.parsons@qimrberghofer.edu.au., de la Hoya M; Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC, 28040 Madrid Spain., Richardson ME; Ambry Genetics Corporation, Aliso Viejo, CA 92656, USA., Tudini E; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Anderson M; Invitae Corporation, San Francisco, CA, USA., Berkofsky-Fessler W; GeneDx, Gaithersburg, MD, USA., Caputo SM; Department of Genetics, Institut Curie, and Paris Sciences Lettres Research University, 75005 Paris, France., Chan RC; Color Health, Burlingame, CA, USA., Cline MS; UC Santa Cruz Genomics Institute, Genomics, University of California, 1156 High Street, Santa Cruz, CA 95064, USA., Feng BJ; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA., Fortuno C; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Gomez-Garcia E; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Hadler J; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Hiraki S; GeneDx, Gaithersburg, MD, USA., Holdren M; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Houdayer C; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics, FHU G4 Génomique, F-76000 Rouen, France., Hruska K; GeneDx, Gaithersburg, MD, USA., James P; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia., Karam R; Ambry Genetics Corporation, Aliso Viejo, CA 92656, USA., Leong HS; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia., Martins A; University Rouen Normandie, Inserm U1245, F-76000 Rouen, France., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Monteiro AN; Department of Cancer Epidemiology, H Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA., Nathan V; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., O'Connor R; Color Health, Burlingame, CA, USA., Pedersen IS; Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark., Pesaran T; Ambry Genetics Corporation, Aliso Viejo, CA 92656, USA., Radice P; Predictive Medicine: Molecular Bases of Genetic Risk, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale Dei Tumori, Via Venezian 1, 20133 Milano, Italy., Schmidt G; Institute of Human Genetics, Hannover Medical School, 30625 Hannover, Germany., Southey M; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC, Australia; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia; Department of Clinical Pathology, The Melbourne Medical School, The University of Melbourne, Melbourne, VIC 3010, Australia., Tavtigian S; Department of Oncological Sciences and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84132, USA., Thompson BA; Department of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., Toland AE; Department of Cancer Biology and Genetics, The Ohio State University College of Medicine, Columbus, OH 43210, USA., Turnbull C; Translational Genetics Team, Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Vogel MJ; Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Weyandt J; Ambry Genetics Corporation, Aliso Viejo, CA 92656, USA., Wiggins GAR; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand., Zec L; Natera, Inc, San Carlos, CA, USA., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Walker LC; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Goldgar DE; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA., Spurdle AB; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia. Electronic address: amanda.spurdle@qimrberghofer.edu.au.
Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Sep 05; Vol. 111 (9), pp. 2044-2058. Date of Electronic Publication: 2024 Aug 13.
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7
Akademický článek
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8
Akademický článek
Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.
Autor: Davidson AL; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia., Kondrashova O; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Leonard C; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Wood S; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Tudini E; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.; Australian Genomics, Melbourne, Victoria, Australia., Hollway GE; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Pearson JV; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Newell F; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Spurdle AB; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Waddell N; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Publikováno v: Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 2054-2062. Date of Electronic Publication: 2022 Oct 02.
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Akademický článek
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Autor: Davidson AL; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Dressel U; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Norris S; Faculty of Medicine and Health, University of Sydney, L2.22 The Quadrangle (A14), Sydney, NSW, 2006, Australia., Canson DM; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Glubb DM; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Fortuno C; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Hollway GE; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Parsons MT; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Vidgen ME; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Australian Genomics, Melbourne, VIC, Australia., Holmes O; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Koufariotis LT; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Lakis V; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Leonard C; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Wood S; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Xu Q; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., McCart Reed AE; Centre for Clinical Research, University of Queensland, Brisbane, QLD, Australia., Pickett HA; Children's Medical Research Institute, University of Sydney, Westmead, NSW, Australia., Al-Shinnag MK; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Austin RL; Australian Genomics, Melbourne, VIC, Australia.; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Burke J; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia., Cops EJ; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia., Nichols CB; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia., Goodwin A; Cancer Genetics Department, Royal Prince Alfred Hospital, Sydney, NSW, Australia.; University of Sydney, Sydney, NSW, Australia., Harris MT; Monash Health Familial Cancer, Monash Health, Melbourne, VIC, Australia.; Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, VIC, Australia., Higgins MJ; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Ip EL; Cancer Genetics, Liverpool Hospital, Sydney, NSW, Australia., Kiraly-Borri C; Department of Health, Genetic Services of WA, Subiaco, WA, Australia., Lau C; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; Genomics, Pathology Queensland, Brisbane, QLD, Australia., Mansour JL; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia., Millward MW; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia., Monnik MJ; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia., Pachter NS; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.; Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia., Ragunathan A; Familial Cancer Services, The Crown Princess Mary Cancer Centre, Westmead Hospital, Westmead, NSW, Australia., Susman RD; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Townshend SL; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia., Trainer AH; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia.; Department of Medicine, University of Melbourne, Melbourne, VIC, Australia., Troth SL; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Tucker KM; Prince of Wales Clinical School, UNSW Medicine and Health, The University of New South Wales, Sydney, NSW, Australia.; Hereditary Cancer Centre, Prince of Wales Hospital, Sydney, NSW, Australia., Wallis MJ; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia., Walsh M; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia., Williams RA; Prince of Wales Clinical School, UNSW Medicine and Health, The University of New South Wales, Sydney, NSW, Australia.; Hereditary Cancer Centre, Prince of Wales Hospital, Sydney, NSW, Australia., Winship IM; Department of Medicine, University of Melbourne, Melbourne, VIC, Australia.; Genomic Medicine and Familial Cancer Clinic, Royal Melbourne Hospital, Melbourne, VIC, Australia., Newell F; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Tudini E; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Australian Genomics, Melbourne, VIC, Australia., Pearson JV; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Poplawski NK; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia., Mar Fan HG; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., James PA; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia.; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia., Spurdle AB; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia. amanda.spurdle@qimrberghofer.edu.au.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia. amanda.spurdle@qimrberghofer.edu.au., Waddell N; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Ward RL; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia. robyn.ward@sydney.edu.au.; Faculty of Medicine and Health, University of Sydney, L2.22 The Quadrangle (A14), Sydney, NSW, 2006, Australia. robyn.ward@sydney.edu.au.
Publikováno v: Genome medicine [Genome Med] 2023 Sep 19; Vol. 15 (1), pp. 74. Date of Electronic Publication: 2023 Sep 19.
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10
Report
Correspondence on "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)" by Riggs et al.
Autor: Spurdle AB; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Drackley A; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Center for Genomics, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL., Ing A; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Center for Genomics, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL., Tudini E; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia; Australian Genomics, Melbourne, VIC, Australia., Yap KL; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Center for Genomics, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL., Tavtigian SV; Department of Oncological Sciences, University of Utah School of Medicine, Salt Lake City, UT; Huntsman Cancer Institute at the University of Utah, Salt Lake City, UT. Electronic address: sean.tavtigian@hci.utah.edu.
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Aug; Vol. 25 (8), pp. 100868. Date of Electronic Publication: 2023 Jun 01.
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