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Quantifying prion disease penetrance using large population control cohorts.
Minikel, Eric Vallabh; Vallabh, Sonia M; Lek, Monkol; Estrada, Karol; Samocha, Kaitlin E; Sathirapongsasuti, J Fah; McLean, Cory Y; Tung, Joyce Y; Yu, Linda P C; Gambetti, Pierluigi; Blevins, Janis; Zhang, Shulin; Cohen, Yvonne; Chen, Wei; Yamada, Masahito; Hamaguchi, Tsuyoshi; Sanjo, Nobuo; Mizusawa, Hidehiro; Nakamura, Yosikazu; Kitamoto, Tetsuyuki; Collins, Steven J; Boyd, Alison; Will, Robert G; Knight, Richard; Ponto, Claudia; Zerr, Inga; Kraus, Theo F J; Eigenbrod, Sabina; Giese, Armin; Calero, Miguel; de Pedro-Cuesta, Jesús; Haïk, Stéphane; Laplanche, Jean-Louis; Bouaziz-Amar, Elodie; Brandel, Jean-Philippe; Capellari, Sabina; Parchi, Piero; Poleggi, Anna; Ladogana, Anna; O'Donnell-Luria, Anne H; Karczewski, Konrad J; Marshall, Jamie L; Boehnke, Michael; Laakso, Markku; Mohlke, Karen L; Kähler, Anna; Chambert, Kimberly; McCarroll, Steven; Sullivan, Patrick F; Hultman, Christina M.
Afiliação
  • Minikel EV; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Program in Biological and Biomedical Sciences, Harvard
  • Vallabh SM; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA. Prion Alliance, Cambridge, MA 02139, USA.
  • Lek M; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Estrada K; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Samocha KE; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Program in Biological and Biomedical Sciences, Harvard
  • Sathirapongsasuti JF; Research, 23andMe Inc., Mountain View, CA 94041, USA.
  • McLean CY; Research, 23andMe Inc., Mountain View, CA 94041, USA.
  • Tung JY; Research, 23andMe Inc., Mountain View, CA 94041, USA.
  • Yu LP; Research, 23andMe Inc., Mountain View, CA 94041, USA.
  • Gambetti P; National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106, USA.
  • Blevins J; National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106, USA.
  • Zhang S; University Hospitals Case Medical Center, Cleveland, OH 44106, USA.
  • Cohen Y; National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106, USA.
  • Chen W; National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106, USA.
  • Yamada M; Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa 920-8640, Japan.
  • Hamaguchi T; Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa 920-8640, Japan.
  • Sanjo N; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
  • Mizusawa H; National Center Hospital, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan.
  • Nakamura Y; Department of Public Health, Jichi Medical University, Shimotsuke 329-0498, Japan.
  • Kitamoto T; Department of Neurological Science, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.
  • Collins SJ; Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Victoria 3010, Australia.
  • Boyd A; Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Victoria 3010, Australia.
  • Will RG; National Creutzfeldt-Jakob Disease Research & Surveillance Unit, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Knight R; National Creutzfeldt-Jakob Disease Research & Surveillance Unit, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Ponto C; National Reference Center for the Surveillance of Human Transmissible Spongiform Encephalopathies, Georg-August-University, Goettingen 37073, Germany.
  • Zerr I; National Reference Center for the Surveillance of Human Transmissible Spongiform Encephalopathies, Georg-August-University, Goettingen 37073, Germany.
  • Kraus TF; Center for Neuropathology and Prion Research (ZNP), Ludwig-Maximilians-University, Munich 81377, Germany.
  • Eigenbrod S; Center for Neuropathology and Prion Research (ZNP), Ludwig-Maximilians-University, Munich 81377, Germany.
  • Giese A; Center for Neuropathology and Prion Research (ZNP), Ludwig-Maximilians-University, Munich 81377, Germany.
  • Calero M; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid 28031, Spain.
  • de Pedro-Cuesta J; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid 28031, Spain.
  • Haïk S; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, Pierre and Marie Curie University Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Epinière, 75013 Paris, France. Assistance Publique-Hôpitaux de Paris (AP-HP), Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospit
  • Laplanche JL; AP-HP, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, 75010 Paris, France.
  • Bouaziz-Amar E; AP-HP, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, 75010 Paris, France.
  • Brandel JP; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, Pierre and Marie Curie University Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Epinière, 75013 Paris, France. Assistance Publique-Hôpitaux de Paris (AP-HP), Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospit
  • Capellari S; Istituto di Ricovero e Cura a Carattere Scientifico, Institute of Neurological Sciences, Bologna 40123, Italy. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40126, Italy.
  • Parchi P; Istituto di Ricovero e Cura a Carattere Scientifico, Institute of Neurological Sciences, Bologna 40123, Italy. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40126, Italy.
  • Poleggi A; Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome 00161, Italy.
  • Ladogana A; Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome 00161, Italy.
  • O'Donnell-Luria AH; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Division of Genetics and Genomics, Boston Children's Ho
  • Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Marshall JL; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Boehnke M; Department of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
  • Laakso M; Department of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio 70210, Finland.
  • Mohlke KL; Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599, USA.
  • Kähler A; Karolinska Institutet, Stockholm SE-171 77, Sweden.
  • Chambert K; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • McCarroll S; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Sullivan PF; Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599, USA. Karolinska Institutet, Stockholm SE-171 77, Sweden.
  • Hultman CM; Karolinska Institutet, Stockholm SE-171 77, Sweden.
Sci Transl Med ; 8(322): 322ra9, 2016 Jan 20.
Article em En | MEDLINE | ID: mdl-26791950
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Priônicas / Penetrância Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Priônicas / Penetrância Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article