المؤلفون: Jin, SC, Lewis, SA, Bakhtiari, S, Zeng, X, Sierant, MC, Shetty, S, Nordlie, SM, Elie, A, Corbett, MA, Norton, BY, van Eyk, CL, Haider, S, Guida, BS, Magee, H, Liu, JM, Pastore, S, Vincent, JB, Brunstrom-Hernandez, J, Papavasileiou, A, Fahey, MC, Berry, JG, Harper, K, Zhou, CC, Zhang, JH, Li, BY, Heim, J, Webber, DL, Frank, MSB, Xia, L, Xu, YR, Zhu, DN, Zhang, BH, Sheth, AH, Knight, JR, Castaldi, C, Tikhonova, IR, Lopez-Giraldez, F, Keren, B, Whalen, S, Buratti, J, Doummar, D, Cho, MG, Retterer, K, Millan, F, Wang, YG, Waugh, JL, Rodan, L, Cohen, JS, Fatemi, A, inE, Phillips, JP, Feyma, T, MacLennan, SC, Vaughan, S, Crompton, KE, Reid, SM, Reddihough, DS, Shang, Q, Gao, C, Novak, I, Badawi, N, Wilson, YA, McIntyre, SJ, Mane, SM, Wang, XY, Amor, DJ, Zarnescu, DC, Lu, QS, Xing, QH, Zhu, CL, Bilguvar, K, Padilla-Lopez, S, Lifton, RP, Gecz, J, MacLennan, AH, Kruer, MC

المصدر: Nature genetics. 52(10):1046

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144790969

المؤلفون: Venugopal P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Arts P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Fox LC; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Clinical Haematology at Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, VIC, Australia.; Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, VIC, Australia., Simons A; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Oncology, Radboud University Medical Center, Nijmegen, The Netherlands., Hiwase DK; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia.; Precision Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Bardy PG; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia., Swift A; Department of Paediatric Haematology, Queensland Children's Hospital, South Brisbane, QLD, Australia., Ross DM; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Precision Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.; Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia.; Department of Haematology, Flinders Medical Centre, Adelaide, SA, Australia., van Vulpen LFD; Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Buijs A; Department of Genetics, University Medical Center, Utrecht, The Netherlands., Bolton KL; Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO., Getta B; Department of Haematology, Liverpool Hospital, Liverpool, NSW, Australia., Furlong E; Department of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children's Hospital, Perth, WA, Australia., Carter T; Department of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children's Hospital, Perth, WA, Australia., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Hoeks M; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands., Al Kindy A; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital and Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman., Al Kindy F; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital and Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman., de Munnik S; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Evans P; Children's Health Ireland at Crumlin, Dublin, Ireland., Frank MSB; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Bournazos AM; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia.; The Children's Medical Research Institute, Westmead, NSW, Australia., Cooper ST; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia.; The Children's Medical Research Institute, Westmead, NSW, Australia.; School of Medicine, Faculty of Health and Medicine, The University of Sydney, Sydney, NSW, Australia., Ha TT; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Jackson MR; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Australian Genomics, Parkville, VIC, Australia., Arriola-Martinez L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Phillips K; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia., Brennan Y; Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia., Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia., Ambler K; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Gao S; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Kenyon R; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Hung K; Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia., Babic M; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., McGovern A; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Rawlings L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Vakulin C; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Dejong L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Fathi R; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., McRae S; Western Haematology and Oncology Clinics, West Perth, WA, Australia., Myles N; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia., Ladon D; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Jongmans M; Department of Genetics, University Medical Center, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Kuiper RP; Department of Genetics, University Medical Center, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Poplawski NK; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia., Barbaro P; Department of Paediatric Haematology, Queensland Children's Hospital, South Brisbane, QLD, Australia., Blombery P; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Clinical Haematology at Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, VIC, Australia.; Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, VIC, Australia., Brown AL; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Hahn CN; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Scott HS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.

المصدر: Blood advances [Blood Adv] 2024 Jul 09; Vol. 8 (13), pp. 3437-3443.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE

مواضيع طبية MeSH: Clonal Hematopoiesis* , Phenotype*, Humans ; Mutation ; Syndrome

المؤلفون: Byrne AB; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Arts P; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia., Ha TT; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Kassahn KS; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Pais LS; Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Donnell-Luria A; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Childrens Hospital, Boston, MA, USA., Babic M; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Frank MSB; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Feng J; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Wang P; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Lawrence DM; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Eshraghi L; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Arriola L; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Toubia J; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Nguyen H; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Royal Women's Hospital, Melbourne, Victoria, Australia., Pinner J; Centre for Clinical Genetics, Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of NSW, Sydney, New South Wales, Australia., McKenzie F; Genetic Services of Western Australia, Perth, Western Australia, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia., Morrow R; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Lipsett J; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Manton N; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Khong TY; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Moore L; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Liebelt JE; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Repromed, Dulwich, South Australia, Australia., Schreiber AW; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia., King-Smith SL; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics, Parkville, Victoria, Australia., Hardy TSE; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Repromed, Dulwich, South Australia, Australia., Jackson MR; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics, Parkville, Victoria, Australia., Barnett CP; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. christopher.barnett@sa.gov.au.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia. christopher.barnett@sa.gov.au., Scott HS; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Australian Genomics, Parkville, Victoria, Australia. hamish.scott@sa.gov.au.

مؤلفون مشاركون: Broad Institute Center for Mendelian Genomics, Genomic Autopsy Study Research Network

المصدر: Nature medicine [Nat Med] 2024 Jan; Vol. 30 (1), pp. 302.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Byrne AB; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Arts P; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia., Ha TT; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Kassahn KS; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Pais LS; Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Donnell-Luria A; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Childrens Hospital, Boston, MA, USA., Babic M; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Frank MSB; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Feng J; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Wang P; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Lawrence DM; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Eshraghi L; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Arriola L; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Toubia J; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Nguyen H; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Royal Women's Hospital, Melbourne, Victoria, Australia., Pinner J; Centre for Clinical Genetics, Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of NSW, Sydney, New South Wales, Australia., McKenzie F; Genetic Services of Western Australia, Perth, Western Australia, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia., Morrow R; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Lipsett J; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Manton N; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Khong TY; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Moore L; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Liebelt JE; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Repromed, Dulwich, South Australia, Australia., Schreiber AW; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia., King-Smith SL; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics, Parkville, Victoria, Australia., Hardy TSE; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Repromed, Dulwich, South Australia, Australia., Jackson MR; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics, Parkville, Victoria, Australia., Barnett CP; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. christopher.barnett@sa.gov.au.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia. christopher.barnett@sa.gov.au., Scott HS; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au.; Australian Genomics, Parkville, Victoria, Australia. hamish.scott@sa.gov.au.

مؤلفون مشاركون: Broad Institute Center for Mendelian Genomics, Genomic Autopsy Study Research Network

المصدر: Nature medicine [Nat Med] 2023 Jan; Vol. 29 (1), pp. 180-189. Date of Electronic Publication: 2023 Jan 19.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

مواضيع طبية MeSH: Perinatal Death*/etiology , Abortion, Spontaneous*/genetics, Pregnancy ; Humans ; Female ; Autopsy ; Prenatal Diagnosis ; Genomics

المؤلفون: Jin SC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA.; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA., Lewis SA; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Zeng X; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Sierant MC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Shetty S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Nordlie SM; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Elie A; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Corbett MA; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Norton BY; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., van Eyk CL; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Haider S; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, London, UK., Guida BS; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Magee H; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Liu J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Pastore S; Molecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Vincent JB; Molecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Brunstrom-Hernandez J; One CP Place, Plano, TX, USA., Papavasileiou A; Division of Paediatric Neurology, Iaso Children's Hospital, Athens, Greece., Fahey MC; Department of Pediatrics, Monash University, Melbourne, Victoria, Australia., Berry JG; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Harper K; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Zhou C; Henan Key Laboratory of Child Genetics and Metabolism, Rehabilitation Department, Children's Hospital of Zhengzhou University, Zhengzhou, China., Zhang J; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Li B; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Zhao H; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Heim J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Webber DL; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Frank MSB; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Xia L; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Xu Y; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhu D; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhang B; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Sheth AH; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Knight JR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Castaldi C; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Tikhonova IR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., López-Giráldez F; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Whalen S; UF de Génétique Clinique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France., Buratti J; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Doummar D; Sorbonne Université, APHP, Service de Neurologie Pédiatrique et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France., Cho M; GeneDx, Gaithersburg, MD, USA., Retterer K; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Wang Y; Institute of Biomedical Science and Children's Hospital, and Key Laboratory of Reproduction Regulation of the National Population and Family Planning Commission (NPFPC), Shanghai Institute of Planned Parenthood Research (SIPPR), IRD, Fudan University, Shanghai, China., Waugh JL; Departments of Pediatrics & Neurology, University of Texas Southwestern and Children's Medical Center of Dallas, Dallas, TX, USA., Rodan L; Departments of Genetics & Genomics and Neurology, Boston Children's Hospital, Boston, MA, USA., Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA., Fatemi A; Division of Neurogenetics and Hugo W. 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المصدر: Nature genetics [Nat Genet] 2021 Mar; Vol. 53 (3), pp. 412.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: van Eyk CL; 1Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 2Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia., Corbett MA; 1Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 2Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia., Frank MSB; 1Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 2Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia., Webber DL; 1Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 2Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia., Newman M; 3Alzheimer's Disease Genetics Laboratory, Centre for Molecular Pathology, School of Biological Sciences, University of Adelaide, Adelaide, SA Australia., Berry JG; 1Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 2Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia., Harper K; 1Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 2Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia., Haines BP; 1Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 2Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia., McMichael G; 1Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 2Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia., Woenig JA; 1Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 2Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia., MacLennan AH; 1Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 2Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia., Gecz J; 1Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 2Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA Australia.; 4South Australian Health and Medical Research Institute, Adelaide, SA Australia.

المصدر: NPJ genomic medicine [NPJ Genom Med] 2019 Nov 04; Vol. 4, pp. 27. Date of Electronic Publication: 2019 Nov 04 (Print Publication: 2019).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE