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The evolutionary history of 2,658 cancers (vol 578, pg 122, 2020)

NATURE 2023年第7948期614卷 E42-E42页

作者： Gerstung, Moritz Jolly, Clemency Leshchiner, Ignaty Dentro, Stefan C. Gonzalez, Santiago Rosebrock, Daniel Mitchell, Thomas J. Rubanova, Yulia Anur, Pavana Yu, Kaixian Tarabichi, Maxime Deshwar, Amit Wintersinger, Jeff Kleinheinz, Kortine Vazquez-Garcia, Ignacio Haase, Kerstin Jerman, Lara Sengupta, Subhajit Macintyre, Geoff Malikic, Salem Donmez, Nilgun Livitz, Dimitri G. Cmero, Marek Demeulemeester, Jonas Schumacher, Steven Fan, Yu Yao, Xiaotong Lee, Juhee Schlesner, Matthias Boutros, Paul C. Bowtell, David D. Zhu, Hongtu Getz, Gad Imielinski, Marcin Beroukhim, Rameen Sahinalp, S. Cenk Ji, Yuan Peifer, Martin Markowetz, Florian Mustonen, Ville Yuan, Ke Wang, Wenyi Morris, Quaid D. Spellman, Paul T. Wedge, David C. Van Loo, Peter European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Wellcome Sanger Institute Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany University of Ljubljana Ljubljana Slovenia The Francis Crick Institute London UK Big Data Institute University of Oxford Oxford UK Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Big Data Institute Li Ka Shing Centre University of Oxford Oxford UK University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Department of Applied Mathematics and Theoretical Physics Centre for Mathematical Sciences University of Cambridge Cambridge UK Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York NY USA Department of Statistics Columbia University New York NY USA Department of Haematology University of Cambridge Cambridge UK University of Leuven Leuven Belgium Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Charlestown MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Dana-Farber Cancer Institute Boston MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Oxford NIHR Biomedical Research Centre Oxford UK Oxford NIHR Biomedical Research Centre University of Oxford Oxford UK University of Toronto Toronto Ontario Canada Vector Institute Toronto Ontario Canada Vector Institute Toronto ON Canada Department of Computer Science University of Toronto Toronto ON Canada Ontario Institute for Cancer Research Toronto Ontario Canada University of California Los Angeles

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Author Correction: An inflammatory state remodels the immune microenvironment and improves risk stratification in acute myeloid leukemia

Nature cancer

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Nature cancer 2023年第1期4卷 149页

作者： Audrey Lasry Bettina Nadorp Maarten Fornerod Deedra Nicolet Huiyun Wu Christopher J Walker Zhengxi Sun Matthew T Witkowski Anastasia N Tikhonova Maria Guillamot-Ruano Geraldine Cayanan Anna Yeaton Gabriel Robbins Esther A Obeng Aristotelis Tsirigos Richard M Stone John C Byrd Stanley Pounds William L Carroll Tanja A Gruber Ann-Kathrin Eisfeld Iannis Aifantis Department of Pathology New York University School of Medicine New York NY USA. Laura & Isaac Perlmutter Cancer Center New York University School of Medicine New York NY USA. Applied Bioinformatics Laboratories New York University School of Medicine New York NY USA. Department of Cell Biology Erasmus Medical Center Rotterdam The Netherlands. The Ohio State University Comprehensive Cancer Center Clara D. Bloomfield Center for Leukemia Outcomes Research Columbus OH USA. Alliance Statistics and Data Center The Ohio State University Comprehensive Cancer Center Columbus OH USA. Department of Biostatistics St. Jude Children's Research Hospital Memphis TN USA. Department of Oncology St. Jude Children's Research Hospital Memphis TN USA. Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA. Department of Internal Medicine University of Cincinnati Cincinnati OH USA. Department of Pediatrics Stanford University School of Medicine Stanford CA USA. tagruber@stanford.edu. The Ohio State University Comprehensive Cancer Center Clara D. Bloomfield Center for Leukemia Outcomes Research Columbus OH USA. ann-kathrin.eisfeld@osumc.edu. Division of Hematology Department of Internal Medicine The Ohio State University Comprehensive Cancer Center Columbus OH USA. ann-kathrin.eisfeld@osumc.edu. Pelotonia Institute for Immuno-Oncology The Ohio State University Columbus OH USA. ann-kathrin.eisfeld@osumc.edu. Department of Pathology New York University School of Medicine New York NY USA. ioannis.aifantis@***. Laura & Isaac Perlmutter Cancer Center New York University School of Medicine New York NY USA. ioannis.aifantis@***.

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137 ancient human genomes from across the Eurasian steppes (vol 557, pg 369, 2018)

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NATURE 2018年第7729期563卷 E16-E16页

作者： Damgaard, Peter de Barros Marchi, Nina Rasmussen, Simon Peyrot, Michael Renaud, Gabriel Korneliussen, Thorfinn Moreno-Mayar, J. Victor Pedersen, Mikkel Winther Goldberg, Amy Usmanova, Emma Baimukhanov, Nurbol Loman, Valeriy Hedeager, Lotte Pedersen, Anders Gorm Nielsen, Kasper Afanasiev, Gennady Akmatov, Kunbolot Aldashev, Almaz Alpaslan, Ashyk Baimbetov, Gabit Bazaliiskii, Vladimir I. Beisenov, Arman Boldbaatar, Bazartseren Boldgiv, Bazartseren Dorzhu, Choduraa Ellingvag, Sturla Erdenebaatar, Diimaajav Dajani, Rana Dmitriev, Evgeniy Evdokimov, Valeriy Frei, Karin M. Gromov, Andrey Goryachev, Alexander Hakonarson, Hakon Hegay, Tatyana Khachatryan, Zaruhi Khaskhanov, Ruslan Kitov, Egor Kolbina, Alina Kubatbek, Tabaldiev Kukushkin, Alexey Kukushkin, Igor Lau, Nina Margaryan, Ashot Merkyte, Inga Mertz, Ilya V. Mertz, Viktor K. Mijiddorj, Enkhbayar Moiyesev, Vyacheslav Mukhtarova, Gulmira Nurmukhanbetov, Bekmukhanbet Orozbekova, Z. Panyushkina, Irina Pieta, Karol Smrcka, Vaclav Shevnina, Irina Logvin, Andrey Sjogren, Karl-Goran Stolcova, Tereza Taravella, Angela M. Tashbaeva, Kadicha Tkachev, Alexander Tulegenov, Turaly Voyakin, Dmitriy Yepiskoposyan, Levon Undrakhbold, Sainbileg Varfolomeev, Victor Weber, Andrzej Sayres, Melissa A. Wilson Kradin, Nikolay Allentoft, Morten E. Orlando, Ludovic Nielsen, Rasmus Sikora, Martin Heyer, Evelyne Kristiansen, Kristian Willerslev, Eske Center for GeoGenetics Natural History Museum of Denmark University of Copenhagen Copenhagen Denmark Eco-anthropologie et Ethnobiologie Muséum national d’Histoire naturelle CNRS Université Paris Diderot Paris France Department of Bio and Health Informatics Technical University of Denmark Lyngby Denmark Leiden University Centre for Linguistics Leiden University Leiden The Netherlands Department of Zoology University of Cambridge Cambridge UK Department of Biology Stanford University Stanford USA Buketov Karaganda State University Saryarka Archaeological Institute Karaganda Kazakhstan Shejire DNA Almaty Kazakhstan Department of Archaeology Conservation and History University of Oslo Oslo Norway Carlsberg Research Laboratory Copenhagen Denmark Department of Theory and Methods Institute of Archaeology Russian Academy of Sciences Moscow Russia Department of History Kyrgyzstan-Turkey Manas University Bishkek Kyrgyzstan National Academy of Sciences of Kyrgyzstan Bishkek Kyrgyzstan Department of History Irkutsk State University Irkutsk Russia A. Kh. Margulan Institute of Archaeology Almaty Kazakhstan Laboratory of Virology Institute of Veterinary Medicine Mongolian University of Life Sciences Ulaanbaatar Mongolia Department of Biology School of Arts and Sciences National University of Mongolia Ulaanbaatar Mongolia Departament of Biology and Ecology Tuvan State University Kyzyl Russia The Explico Foundation Floro Norway Department of Archaeology Ulaanbaatar State University Ulaanbaatar Mongolia Department of Biology and Biotechnology Hashemite University Zarqa Jordan Radcliffe Institute for Advanced Study Harvard University Cambridge USA Unit for Environmental Archaeology and Materials Science National Museum of Denmark Copenhagen Denmark Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) RAS St. Petersburg Russia Archaeological Expertise LLC Almaty Kazakhstan Center for Applied Genomics The Children’s Hospital of Philadelphia Ph

with In this Article, Angela M. Taravella and Melissa A. Wilson Sayres have been added to the author list (associated with: School of Life Sciences, Center for Evolution and Medicine, The Biodesign Institute, Arizona ...

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Erratum to: Methods for evaluating medical tests and biomarkers

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Diagnostic and prognostic research 2017年第1期1卷 11页

作者： Gowri Gopalakrishna Miranda Langendam Rob Scholten Patrick Bossuyt Mariska Leeflang Anna Noel-Storr James Thomas Iain Marshall Byron Wallace Penny Whiting Clare Davenport Gowri GopalaKrishna Isabel de Salis Sue Mallett Robert Wolff Richard Riley Marie Westwood Jos Kleinen Gary Collins Hans Reitsma Karel Moons Antonia Zapf Annika Hoyer Katharina Kramer Oliver Kuss J Ensor J J Deeks E C Martin R D Riley Gerta Rücker Susanne Steinhauser Martin Schumacher Joie Ensor Kym Snell Brian Willis Thomas Debray Jon Deeks Lavinia Ferrante di Ruffano Sian Taylor-Phillips Chris Hyde Stuart A Taylor Gauraang Batnagar Lavinia Ferrante Di Ruffano Farah Seedat Aileen Clarke Sarah Byron Frances Nixon Rebecca Albrow Thomas Walker Carla Deakin Zhivko Zhelev Harriet Hunt Yaling Yang Lucy Abel James Buchanan Thomas Fanshawe Bethany Shinkins Laure Wynants Jan Verbakel Sabine Van Huffel Dirk Timmerman Ben Van Calster Aeliko Zwinderman Jason Oke Jack O'Sullivan Rafael Perera Brian Nicholson Hannah L Bromley Tracy E Roberts Adele Francis Denniis Petrie G Bruce Mann Kinga Malottki Holly Smith Lucinda Billingham Alice Sitch Oke Gerke Mie Holm-Vilstrup Eivind Antonsen Segtnan Ulrich Halekoh Poul Flemming Høilund-Carlsen Bernard G Francq Jac Dinnes Julie Parkes Walter Gregory Jenny Hewison Doug Altman William Rosenberg Peter Selby Julien Asselineau Paul Perez Aïssatou Paye Emilie Bessede Cécile Proust-Lima Christiana Naaktgeboren Joris de Groot Anne Rutjes Johannes Reitsma Emmanuel Ogundimu Jonathan Cook Yannick Le Manach Yvonne Vergouwe Romin Pajouheshnia Rolf Groenwold Karen Moons Linda Peelen Daan Nieboer Bavo De Cock Micael J Pencina Ewout W Steyerberg Jennifer Cooper Nick Parsons Chris Stinton Steve Smith Andy Dickens Rachel Jordan Alexandra Enocson David Fitzmaurice Peymane Adab Charles Boachie Gaj Vidmar Karoline Freeman Martin Connock Rachel Court Carl Moons Jessica Harris Andrew Mumford Zoe Plummer Kurtis Lee Barnaby Reeves Chris Rogers Veerle Verheyden Gianni D Angelini Gavin J Murphy Jeremy Huddy Melody Ni Katherine Good Graham Cooke 1Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 2Cochrane Netherlands Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht Netherlands. 234Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 49Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 3Cochrane Dementia and Cognitive Improvement Group University of Oxford Oxford UK. 4EPPI-Centre Department of Social Science University College London London UK. 5Division of Health and Social Care Research King's College London London UK. 6College of Computer and Information Science Northeastern University Boston USA. 13University Hospitals Bristol NHS Foundation Trust School of Social and Community Medicine Bristol UK. 275Institute of Applied Health Research University of Birmingham Birmingham UK. 9Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 10School of Social and Community Medicine University of Bristol Bristol UK. 179Institute of Applied Health Research University of Birmingham Birmingham UK. 12Kleijnen Systematic Reviews Ltd York UK. 25Research Institute for Primary Care and Health Sciences Keele University Keele UK. 188Centre for Statistics in Medicine Nuffield Department of Orthopaedics Rheumatology and Musculoskeletal Sciences University of Oxford Oxford UK. 191Julius Center for Health Sciences and Primary Care University Medical Center Utrecht 3584 CG Utrecht Netherlands. 237Julius Center for Health Sciences and Primary Care University Medical Center Utrecht 3584 CG Utrecht Netherlands. 18Department of Medical Statistics University Medical Center Göttingen Göttingen Germany. 19Institute for B

[This corrects the article DOI: 10.1186/s41512-016-0001-y.].

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S101: GENETIC AND EPIGENETIC FACTORS DRIVING PRIMARY MEDIASTINAL B-CELL LYMPHOMA PATHOGENESIS AND OUTCOME

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HemaSphere 2022年第S3期6卷

作者： D. Noerenberg F. Briest C. Hennch K. Yoshida J. Nimo R. Hablesreiter Y. Takeuchi D. Sasca H. Ueno L. Mansouri Y. Inoue L. Wiegand A. M. Staiger B. Casadei M. Ziepert F. Asmar P. Korkolopoulou M. Kirchner P. Mertins J. Weiner E. Toth T. Weber A. Warth T. Schneider R.-M. Amini W. Klapper M. Hummel V. Poeschel G. Kanellis A. Rosenwald G. Held E. Campo K. Stamatopoulos I. Anagnostopoulos L. Bullinger N. Goldschmidt P. L. Zinzani C. Bödor R. Rosenquist T. P. Vassilakopoulos G. Ott S. Ogawa F. Damm Department of Hematology Oncology and Cancer Immunology Charité – Universitätsmedizin Berlin corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin Berlin Germany Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan Wellcome Trust Sanger Institute Hinxton United Kingdom Department of Hematology Oncology and Pulmonary Medicine University Medical Center Johannes Gutenberg-University Mainz Germany Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden Department of Clinical Pathology Robert-Bosch-Krankenhaus University of Leipzig Leipzig Germany Dr Margarete Fischer-Bosch Institute of Clinical Pharmacology Stuttgart and University of Tuebingen Stuttgart Germany Istituto di Ematologia “Seràgnoli” IRCCS Azienda Ospedaliero-Universitaria di Bologna Bologna Italy Dipartimento di Medicina Specialistica Diagnostica e Sperimentale Università di Bologna Bologna Italy Institute of Medical Informatics Statistics and Epidemiology University of Leipzig Leipzig Germany Department of Hematology Copenhagen University Hospital Rigshospitalet Copenhagen Denmark First Department of Pathology National and Kapodistrian University of Athens Laikon General Hospital Athens Greece Core Unit Proteomics Berlin Institute of Health Charité - Universitätsmedizin Berlin and Max-Delbrück-Center for Molecular Medicine Berlin Germany Core Unit Bioinformatics Berlin Institute of Health at Charité Universitätsmedizin Berlin Berlin Germany National Institute of Oncology Budapest Hungary Department of Internal Medicine IV Haematology and Oncology University Hospital Halle (Saale) Martin-Luther-University Halle-Wittenberg Halle Germany Institute of Pathology University Hospital Heidelberg Heidelberg Germany Department of Immunology Genetics and Pathology Uppsala University and University Hospital Uppsala Sweden Department of Pathology Hematopathology Section and Lymph Node Registry Univ

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Erratum to: Making sense of big data in health research: towards an EU action plan

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Genome medicine 2016年第1期8卷 118页

作者： Charles Auffray Rudi Balling Inês Barroso László Bencze Mikael Benson Jay Bergeron Enrique Bernal-Delgado Niklas Blomberg Christoph Bock Ana Conesa Susanna Del Signore Christophe Delogne Peter Devilee Alberto Di Meglio Marinus Eijkemans Paul Flicek Norbert Graf Vera Grimm Henk-Jan Guchelaar Yi-Ke Guo Ivo Glynne Gut Allan Hanbury Shahid Hanif Ralf-Dieter Hilgers Ángel Honrado D Rod Hose Jeanine Houwing-Duistermaat Tim Hubbard Sophie Helen Janacek Haralampos Karanikas Tim Kievits Manfred Kohler Andreas Kremer Jerry Lanfear Thomas Lengauer Edith Maes Theo Meert Werner Müller Dörthe Nickel Peter Oledzki Bertrand Pedersen Milan Petkovic Konstantinos Pliakos Magnus Rattray Josep Redón I Màs Reinhard Schneider Thierry Sengstag Xavier Serra-Picamal Wouter Spek Lea A I Vaas Okker van Batenburg Marc Vandelaer Peter Varnai Pablo Villoslada Juan Antonio Vizcaíno John Peter Mary Wubbe Gianluigi Zanetti European Institute for Systems Biology and Medicine 1 avenue Claude Vellefaux 75010 Paris France. cauffray@***. CIRI-UMR5308 CNRS-ENS-INSERM-UCBL Université de Lyon 50 avenue Tony Garnier 69007 Lyon France. cauffray@***. Luxembourg Centre for Systems Biomedicine University of Luxembourg 7 Avenue des Hauts Fourneaux 4362 Esch-sur-Alzette Luxembourg. rudi.balling@uni.lu. Wellcome Trust Sanger Institute Wellcome Genome Campus Hinxton Cambridge CB10 1SA UK. Health Services Management Training Centre Faculty of Health and Public Services Semmelweis University Kútvölgyi út 2 1125 Budapest Hungary. Centre for Personalised Medicine Linköping University 581 85 Linköping Sweden. Translational & Bioinformatics Pfizer Inc. 300 Technology Square Cambridge MA 02139 USA. Institute for Health Sciences IACS - IIS Aragon San Juan Bosco 13 50009 Zaragoza Spain. ELIXIR Wellcome Genome Campus Hinxton Cambridge CB10 1SD UK. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Lazarettgasse 14 AKH BT25.2 1090 Vienna Austria. Department of Laboratory Medicine Medical University of Vienna Lazarettgasse 14 AKH BT25.2 1090 Vienna Austria. Max Planck Institute for Informatics Campus E1 4 66123 Saarbrücken Germany. Príncipe Felipe Research Center C/Eduardo Primo Yúfera 3 46012 Valencia Spain. University of Florida Institute of Food and Agricultural Sciences (IFAS) 2033 Mowry Road Gainesville FL 32610 USA. Bluecompanion Ltd 6 London Street (second floor) London W2 1HR UK. Technology Data & Analytics KPMG Luxembourg Société Coopérative 39 Avenue John F. Kennedy 1855 Luxembourg Luxembourg. Department of Human Genetics Department of Pathology Leiden University Medical Centre Einthovenweg 20 2333 ZC Leiden The Netherlands. Information Technology Department European Organization for Nuclear Research (CERN) 385 Route de Meyrin 1211 Geneva 23 Switzerland. Julius Center for Health Sciences and Primary Care University Medical Center

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The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)

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NATURE 2021年第7846期590卷 E53-E53页

作者： Karczewski, Konrad J. Francioli, Laurent C. Tiao, Grace Cummings, Beryl B. Alfoldi, Jessica Wang, Qingbo Collins, Ryan L. Laricchia, Kristen M. Ganna, Andrea Birnbaum, Daniel P. Gauthier, Laura D. Brand, Harrison Solomonson, Matthew Watts, Nicholas A. Rhodes, Daniel Singer-Berk, Moriel England, Eleina M. Seaby, Eleanor G. Kosmicki, Jack A. Walters, Raymond K. Tashman, Katherine Farjoun, Yossi Banks, Eric Poterba, Timothy Wang, Arcturus Seed, Cotton Whiffin, Nicola Chong, Jessica X. Samocha, Kaitlin E. Pierce-Hoffman, Emma Zappala, Zachary O'Donnell-Luria, Anne H. Minikel, Eric Vallabh Weisburd, Ben Lek, Monkol Ware, James S. Vittal, Christopher Armean, Irina M. Bergelson, Louis Cibulskis, Kristian Connolly, Kristen M. Covarrubias, Miguel Donnelly, Stacey Ferriera, Steven Gabriel, Stacey Gentry, Jeff Gupta, Namrata Jeandet, Thibault Kaplan, Diane Llanwarne, Christopher Munshi, Ruchi Novod, Sam Petrillo, Nikelle Roazen, David Ruano-Rubio, Valentin Saltzman, Andrea Schleicher, Molly Soto, Jose Tibbetts, Kathleen Tolonen, Charlotte Wade, Gordon Talkowski, Michael E. Aggregation, Genome Neale, Benjamin M. Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland Helsinki Finland Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Vertex Pharmaceuticals Inc Boston MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Department of Neurology Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Department of Medicine Harvard Medical School Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Cardiovascular Disease Initiative and Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Genomics Diabetes and Endocrinology Lund University Lund Sweden Folkhälsan Institute of Genetics Folkhälsan Research C

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The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)

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NATURE 2021年第7874期597卷 E3-E4页

作者： Gudmundsson, Sanna Karczewski, Konrad J. Francioli, Laurent C. Tiao, Grace Cummings, Beryl B. Alfoldi, Jessica Wang, Qingbo Collins, Ryan L. Laricchia, Kristen M. Ganna, Andrea Birnbaum, Daniel P. Gauthier, Laura D. Brand, Harrison Solomonson, Matthew Watts, Nicholas A. Rhodes, Daniel Singer-Berk, Moriel England, Eleina M. Seaby, Eleanor G. Kosmicki, Jack A. Walters, Raymond K. Tashman, Katherine Farjoun, Yossi Banks, Eric Poterba, Timothy Wang, Arcturus Seed, Cotton Whiffin, Nicola Chong, Jessica X. Samocha, Kaitlin E. Pierce-Hoffman, Emma Zappala, Zachary O'Donnell-Luria, Anne H. Minikel, Eric Vallabh Weisburd, Ben Lek, Monkol Ware, James S. Vittal, Christopher Armean, Irina M. Bergelson, Louis Cibulskis, Kristian Connolly, Kristen M. Covarrubias, Miguel Donnelly, Stacey Ferriera, Steven Gabriel, Stacey Gentry, Jeff Gupta, Namrata Jeandet, Thibault Kaplan, Diane Llanwarne, Christopher Munshi, Ruchi Novod, Sam Petrillo, Nikelle Roazen, David Ruano-Rubio, Valentin Saltzman, Andrea Schleicher, Molly Soto, Jose Tibbetts, Kathleen Tolonen, Charlotte Wade, Gordon Talkowski, Michael E. Neale, Benjamin M. Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland Helsinki Finland Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Vertex Pharmaceuticals Inc Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Department of Neurology Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Department of Medicine Harvard Medical School Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Cardiovascular Disease Initiative and Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Genomics Diabetes and Endocrinology Lund University Lund Sweden Folkhälsan Institute of Genetics Folkhälsan Research C

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

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Nature genetics 2023年第9期55卷 1471-1482页

作者： Remi Stevelink Dorothee Kasteleijn-Nolst Trenite Bobby P. C. Koeleman Dick Lindhout Anja C. M. Sonsma Ciarán Campbell Gianpiero L. Cavalleri Norman Delanty Hany El-Naggar Austin Lacey Peter Widdess-Walsh Colin P. Doherty Siwei Chen Claire Churchhouse Mark J. Daly Yen-Chen A. Feng Daniel P. Howrigan Mitja I. Kurki Benjamin M. Neale Aarno Palotie Wei Zhou Namrata Gupta Henrike O. Heyne Bassel Abou-Khalil Kevin F. Haas R. S. Taneja Oluyomi M. Adesoji Michael Nothnagel Peter Nürnberg Thomas Sander Zaid Afawi Ilan Blatt Amos D. Korczyn Elisabetta Amadori Ganna Balagura Antonella Riva Marcello Scala Paolo Scudieri Pasquale Striano Federico Zara Michele Iacomino Francesca Madia Alison Anderson Patrick Kwan Terence J. O’Brien Slavé Petrovski K. Meng Tan Marian Todaro Joseph Anderson Danielle M. Andrade Quratulain Zulfiqar Ali Grazia Annesi Pauls Auce Andreja Avbersek Simona Balestrini Vera Braatz Claudia B. Catarino Krishna Chinthapalli Jennifer Jamnadas-Khoda Dalia Kasperavičiūte Costin Leu Josemir W. Sander Sanjay M. Sisodiya Sara Zagaglia Melanie Bahlo Karen L. Oliver Mark D. Baker Beata Fonferko-Shadrach William O. Pickrell Carmen Barba Claudia Bianchini Viola Doccini Renzo Guerrini Davide Mei Martino Montomoli Elena Parrini Annalisa Vetro Karen Barboza Fabrice Bartolomei Thomas Bast Bernhard J. Steinhoff Larry Baum Stacey S. Cherny Pak Sham Tobias Baumgartner Christian E. Elger Kerstin Hallmann Wolfram S. Kunz Rainer Surges Randi von Wrede Gábor Zsurka Betül Baykan Nerses Bebek Yeşim Kesim Albert J. Becker Susanne Schoch Felicitas Becker Caitlin A. Bennett Samuel F. Berkovic Stephanie L. Leech Brigid M. Regan Ingrid E. Scheffer Bianca Berghuis Ahmad Beydoun Wassim Nasreddine Francesca Bisulli Lidia Di Vito Lorenzo Ferri Tania Giangregorio Laura Licchetta Raffaella Minardi Barbara Mostacci Carlotta Stipa Paolo Tinuper Lorenzo Muccioli Federica Pondrelli Dheeraj R. Bobbili Emadeldin Hassanin Roland Krause Zied Landoulsi Patrick May Ingo Borggraefe Christian Bosselmann Christian Hengsbach Josua Kegele Stephen Lauxmann Department of Genetics University Medical Center Utrecht Utrecht The Netherlands Stichting Epilepsie Instellingen Nederland (SEIN) Heemstede The Netherlands School of Pharmacy and Biomolecular Sciences The Royal College of Surgeons in Ireland Dublin Ireland The FutureNeuro Research Centre Dublin Ireland Department of Neurology Beaumont Hospital Dublin Ireland Department of Neurology St. James’s Hospital Dublin Ireland Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital and Harvard Medical School Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and M.I.T Cambridge MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Psychiatric & Neurodevelopmental Genetics Unit Department of Psychiatry Massachusetts General Hospital and Harvard Medical School Boston MA USA Division of Biostatistics Institute of Epidemiology and Preventive Medicine College of Public Health National Taiwan University Taipei Taiwan Hasso Plattner Institute Digital Health Center University of Potsdam Potsdam Germany Hasso Plattner Institute Mount Sinai School of Medicine New York City NY USA Department of Neurology Vanderbilt University Medical Center Nashville TN USA Cologne Center for Genomics (CCG) University of Cologne Faculty of Medicine and University Hospital Cologne Cologne Germany University Hospital Cologne Cologne Germany Department of Neurology Charité Universitaetsmedizin Berlin Campus Virchow-Clinic Berlin Germany Tel-Aviv University Sackler Faculty of Medicine Ramat Aviv Israel Department of Neurology Sheba Medical Center Ramat Gan Israel Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Department of Medicine University of Melbour

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including...

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Evaluating drug targets through human loss-of-function genetic variation (vol 581, pg 459, 2020)

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NATURE 2021年第7846期590卷 E56-E56页

作者： Minikel, Eric Vallabh Karczewski, Konrad J. Martin, Hilary C. Cummings, Beryl B. Whiffin, Nicola Rhodes, Daniel Alfoldi, Jessica Trembath, Richard C. van Heel, David A. Daly, Mark J. Schreiber, Stuart L. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Chemical Biology and Therapeutics Science Program Broad Institute of MIT and Harvard Cambridge MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Henry and Allison McCance Center for Brain Health Massachusetts General Hospital Boston MA USA Department of Neurology Massachusetts General Hospital Boston MA USA Prion Alliance Cambridge MA USA National Heart and Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Department of Medicine Harvard Medical School Boston MA USA Cardiac Arrhythmia Service Massachusetts General Hospital Boston MA USA Centre for Population Genomics Garvan Institute of Medical Research and UNSW Sydney Sydney Australia Centre for Population Genomics Murdoch Children’s Research Institute Melbourne Australia Divi

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