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Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

Nature communications 2017年第1期8卷 1414页

作者： M Carola Zillikens Serkalem Demissie Yi-Hsiang Hsu Laura M Yerges-Armstrong Wen-Chi Chou Lisette Stolk Gregory Livshits Linda Broer Toby Johnson Daniel L Koller Zoltán Kutalik Jian'an Luan Ida Malkin Janina S Ried Albert V Smith Gudmar Thorleifsson Liesbeth Vandenput Jing Hua Zhao Weihua Zhang Ali Aghdassi Kristina Åkesson Najaf Amin Leslie J Baier Inês Barroso David A Bennett Lars Bertram Rainer Biffar Murielle Bochud Michael Boehnke Ingrid B Borecki Aron S Buchman Liisa Byberg Harry Campbell Natalia Campos Obanda Jane A Cauley Peggy M Cawthon Henna Cederberg Zhao Chen Nam H Cho Hyung Jin Choi Melina Claussnitzer Francis Collins Steven R Cummings Philip L De Jager Ilja Demuth Rosalie A M Dhonukshe-Rutten Luda Diatchenko Gudny Eiriksdottir Anke W Enneman Mike Erdos Johan G Eriksson Joel Eriksson Karol Estrada Daniel S Evans Mary F Feitosa Mao Fu Melissa Garcia Christian Gieger Thomas Girke Nicole L Glazer Harald Grallert Jagvir Grewal Bok-Ghee Han Robert L Hanson Caroline Hayward Albert Hofman Eric P Hoffman Georg Homuth Wen-Chi Hsueh Monica J Hubal Alan Hubbard Kim M Huffman Lise B Husted Thomas Illig Erik Ingelsson Till Ittermann John-Olov Jansson Joanne M Jordan Antti Jula Magnus Karlsson Kay-Tee Khaw Tuomas O Kilpeläinen Norman Klopp Jacqueline S L Kloth Heikki A Koistinen William E Kraus Stephen Kritchevsky Teemu Kuulasmaa Johanna Kuusisto Markku Laakso Jari Lahti Thomas Lang Bente L Langdahl Lenore J Launer Jong-Young Lee Markus M Lerch Joshua R Lewis Lars Lind Cecilia Lindgren Yongmei Liu Tian Liu Youfang Liu Östen Ljunggren Mattias Lorentzon Robert N Luben William Maixner Fiona E McGuigan Carolina Medina-Gomez Thomas Meitinger Håkan Melhus Dan Mellström Simon Melov Karl Michaëlsson Braxton D mitchell Andrew P Morris Leif Mosekilde Anne Newman Carrie M Nielson Jeffrey R O'Connell Ben A Oostra Eric S Orwoll Aarno Palotie Stephen C J Parker Munro Peacock Markus Perola Annette Peters Ozren Polasek Richard L Prince Katri Räikkönen Stuart H Ralston Samuli Ripatti John A Robbins Jerome I Rotter Igor Rudan Veikko Department of Internal Medicine Erasmus MC Rotterdam 3000 The Netherlands. Netherlands Genomics Initiative (NGI)-sponsored Netherlands Consortium for Healthy Aging (NCHA) Leiden 2593 The Netherlands. Department of Biostatistics Boston University School of Public Health Boston MA 02118 USA. Hebrew SeniorLife Institute for Aging Research Roslindale MA 02131 USA. Harvard Medical School Boston MA 02115 USA. Molecular and Integrative Physiological Sciences Program Harvard School of Public Health Boston MA 02115 USA. Program in Personalized and Genomic Medicine and Department of Medicine Division of Endocrinology Diabetes and Nutrition University of Maryland School of Medicine Baltimore MD 21201 USA. Broad Institute Cambridge MA 02142 USA. Sackler Faculty of Medicine Department of Anatomy and Anthropology Tel Aviv University Tel Aviv 6997801 Israel. Department of Twin Research and Genetic Epidemiology King's College London St Thomas' Campus London WC2R 2LS UK. Department of Epidemiology Erasmus MC Rotterdam 3000 The Netherlands. Department of Medical Genetics University of Lausanne Lausanne 1011 Switzerland. Swiss Institute of Bioinformatics Lausanne 1015 Switzerland. Centre Hospitalier Universitaire (CHUV) University Institute for Social and Preventive Medicine Lausanne 1010 Switzerland. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN 46202 USA. MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge Biomedical Campus Cambridge CB2 OQQ UK. Institute of Epidemiology II Helmholtz Zentrum München - German Research Center for Environmental Health Neuherberg 85764 Germany. Icelandic Heart Association Kopavogur 201 Iceland. Faculty of Medicine University of Iceland Reykjavik 101 Iceland. deCODE Genetics Reykjavik 101 Iceland. Department of Internal Medicine Institute of Medicine Sahlgrenska Academy University of Gothenburg Gothenburg SE-405 30 Sweden. Dep

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A second update on mapping the human genetic architecture of COVID-19

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Nature 2023年第7977期621卷 E7-E26页

作者： Masahiro Kanai Christine Stevens Benjamin M. Neale Mark Daly Andrea Ganna Amy Trankiem Mary K. Balaconis Samuli Ripatti Lindo Nkambul Mark J. Daly Sam Bryant Matthew Solomonson Shea J. Andrews Mattia Cordioli Juha Karjalainen Juha Mehtonen Matti Pirinen Andrea Corbetta Bradley Jermy Kati Donner Katja Kivinen Aarno Palotie Mari Kaunisto Kumar Veerapen Konrad J. Karczewski Alicia R. Martin Elizabeth G. Atkinson Kristin Tsuo Nikolas Baya Rahul Gupta Raymond K. Walters Duncan S. Palmer Gopal Sarma Nathan Cheng Wenhan Lu Claire Churchhouse Jacqueline I. Goldstein Daniel King Wei Zhou Cotton Seed Hilary Finucane F. Kyle Satterstrom Gita A. Pathak Akiko Iwasaki Karolina Chwialkowska Karolina Chwiałkowska Brooke N. Wolford Hajar Fauzan Ahmad Shea Andrews Kathrin Aprile von Hohenstaufen Puoti Palwende R. Boua Guillaume Butler-Laporte Celia M. T. Greenwood Bartha M. Knoppers Mark Lathrop Carmen L. Cadilla Francesca Colombo Nicole Dueker Chloe Kirk Atanu Kumar Dutta Yasser M. El-Sherbiny Jehan J. El-Jawhari Doaa Shahin Ahmed Elzeiny Tamer A. Mansour Madonna M. Eltoukhy Attia A. S. Mohamed Sahar Esmaeeli Annika Faucon Israel Fernández Cadenas Israel Fernandez-Cadenas Laia Llucià-Carol Natalia Cullell Elena Muiño Jara Cárcel-Márquez Margherita Francescatto Laurent Francioli Lindokuhle Nkambule Jatin Arora Soumya Raychaudhuri Caroline Cusick Lude Franke Macarena Fuentes Macarena Fuentes-Guajardo David Gómez Cabrero Emi N. Harry Philip Jansen József L. Szentpéteri Réka Várnai Elżbieta Kaja Athanasios Kousathanas Dorote Pasko Mark J. Caulfield Alex Stuckey Christopher A. Odhams Susan Walker Daniel Rhodes Richard H. Scott Loukas Moutsianas Afshan Siddiq Peter Goddard Sally Donovan Tala Zainy Fiona Maleady-Crowe Linda Todd Shahla Salehi Greg Elgar Georgia Chan Prabhu Arumugam Christine Patch Augusto Rendon Tom A. Fowler Jose E. Krieger Sanjay K. Patel Audrey Lemaçon Sophie Limou Pietro Lió Eirini Marouli Charles Hinds Minttu M. Marttila Carolina Medina-Gómez Isabelle Migeotte Soumyajit Mondal Andrés Moreno-Estrada Leire Moya Tomok Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Department of Biomedical Informatics Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Institute for Molecular Medicine Finland University of Helsinki Helsinki Finland Institute for Molecular Medicine Finland (FIMM) HiLIFE University of Helsinki Helsinki Finland Public Health Faculty of Medicine University of Helsinki Helsinki Finland Analytic & Translational Genetics Unit Massachusetts General Hospital Boston MA USA Stanley Center for Psychiatric Research & Program in Medical and Population Genetics Cambridge UK Institute for Molecular Medicine Finland (FIMM) Univerisity of Helsinki Helsinki Finland University of California San Francisco San Francisco CA USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Department of Psychiatry School of Medicine Yale University New Haven CT USA Veteran Affairs Connecticut Healthcare System West Haven CT USA Yale University New Haven CT USA Centre for Bioinformatics and Data Analysis Medical University of Bialystok Bialystok Poland Department of Computational Medicine and Bioinformatics University of Michigan Ann Arbor MI USA Faculty of Industrial Sciences and Technology Universiti Malaysia Pahang Pahang Malaysia Icahn School of Medicine at Mount Sinai New York NY USA Genolier Innovation Network and Hub Swiss Medical Network Genolier Healthcare Campus Genolier Switzerland Immediate Independent Multidisciplinary Med & Biotech Research Association Milan Italy Clinical Research Unit of Nanor

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Genetics in Medicine Open

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Genetics in Medicine Open 2024年 2卷 101873-101873页

作者： van der Sluijs, P.J. Gösgens, M. Dingemans, A.J.M. Striano, P. Riva, A. Mignot, C. Faudet, A. Vasileiou, G. Walther, M. Schrier Vergano, S.A. Alders, M. Alkuraya, F.S. Alorainy, I. Alsaif, H.S. Anderlid, B. Bache, I. van Beek, I. Blanluet, M. van Bon, B.W. Brunet, T. Brunner, H. Carriero, M.L. Charles, P. Chatron, N. Coccia, E. Dubourg, C. Earl, R.K. Eichler, E.E. Faivre, L. Foulds, N. Graziano, C. Guerrot, A.M. Hashem, M.O. Heide, S. Heron, D. Hickey, S.E. Hopman, S.M.J. Kattentidt-Mouravieva, A. Kerkhof, J. Klein Wassink-Ruiter, J.S. Kurtz-Nelson, E.C. Kušíková, K. Kvarnung, M. Lecoquierre, F. Leszinski, G.S. Loberti, L. Magoulas, P.L. Mari, F. Maystadt, I. Merla, G. Milunsky, J.M. Moortgat, S. Nicolas, G. Leary, M.O.’ Odent, S. Ozmore, J.R. Parbhoo, K. Pfundt, R. Piccione, M. Pinto, A.M. Popp, B. Putoux, A. Rehm, H.L. Reis, A. Renieri, A. Rosenfeld, J.A. Rossi, M. Salzano, E. Saugier-Veber, P. Seri, M. Severi, G. Sonmez, F.M. Strobl-Wildemann, G. Stuurman, K.E. Uctepe, E. Van Esch, H. Vitetta, G. de Vries, B.B.A. Wahl, D. Wang, T. Zacher, P. Heitink, K.R. Ropers, F.G. Steenbeek, D. Rybak, T. Santen, G.W.E. Department of Clinical Genetics Leiden University Medical Center Leiden Netherlands Department of Human Genetics Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen Netherlands Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto Giannina Gaslini Genova Italy Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Service de génétique médicale APHP Pitié-Salpêtrière Paris France Département de Génétique Assistance publique - Hôpitaux de Paris Sorbonne Université Hôpital Pitié-Salpêtrière et Trousseau Paris France Institute of Human Genetics Universitätsklinikum Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg Erlangen 91054 Germany Centre for Rare Diseases Erlangen (ZSEER) Erlangen Germany Children's Hospital of The King's Daughters Norfolk VA United States Department of Pediatrics Eastern Virginia Medical School Norfolk VA United States Section Clinical Genetics Department of Human Genetics Amsterdam University Medical Centers Amsterdam Netherlands Department of Translational Genomics Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia Department of Anatomy and Cell Biology College of Medicine Alfaisal University Riyadh Saudi Arabia Department of Radiology and Diagnostic Imaging King Khalid University Hospital and College of Medicine King Saud University Riyadh Saudi Arabia Centre of Excellence for Biomedicine Joint Centers of Excellence Program King Abdulaziz City for Science and Technology Riyadh Saudi Arabia Clinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark Service de Génétique Oncologique Institut Curie Paris France Department of Human

Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families. Methods: Data on patients aged 18+ years with ARID1B-related disorder were collected through an online questionnaire completed by clinicians and parents. Results: Eighty-seven adult patients with ARID1B were included. Cognitive functioning ranged from borderline to severe intellectual disability. Patients identified through the genetic workup of their child were either mosaic or had a variant in exon 1. New clinical features identified in this population are loss of skill (16/64, 25%) and recurrent patella luxation (12/45, 32%). Self-sustainability data showed that 88% (45/51) could eat independently, and 16% (7/45) could travel alone by public transport. Facial photo analysis showed that patients’ photographs taken at different ages clustered consistently, separate from matched controls. Conclusion: The ARID1B spectrum is broad, and as patients age, there is a significant shift in the medical aspects requiring attention. To address the changing medical needs with increasing age, we have formulated recommendations to promote timely intervention in an attempt to mitigate disease progression. © 2024 The Authors

关键词： Adult ARID1B Coffin–Siris syndrome Developmental delay Intellectual disability

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Publisher Correction: Shared heritability and functional enrichment across six solid cancers

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Nature communications 2019年第1期10卷 4386页

作者： Xia Jiang Hilary K Finucane Fredrick R Schumacher Stephanie L Schmit Jonathan P Tyrer Younghun Han Kyriaki Michailidou Corina Lesseur Karoline B Kuchenbaecker Joe Dennis David V Conti Graham Casey Mia M Gaudet Jeroen R Huyghe Demetrius Albanes Melinda C Aldrich Angeline S Andrew Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Natalia N Antonenkova Susanne M Arnold Kristan J Aronson Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Jyotsna Batra Matthias W Beckmann Javier Benitez Sara Benlloch Andrew Berchuck Sonja I Berndt Heike Bickeböller Stephanie A Bien Carl Blomqvist Stefania Boccia Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Hiltrud Brauch Hermann Brenner James D Brenton Mark N Brook Joan Brunet Hans Brunnström Daniel D Buchanan Barbara Burwinkel Ralf Butzow Gabriella Cadoni Trinidad Caldés Maria A Caligo Ian Campbell Peter T Campbell Géraldine Cancel-Tassin Lisa Cannon-Albright Daniele Campa Neil Caporaso André L Carvalho Andrew T Chan Jenny Chang-Claude Stephen J Chanock Chu Chen David C Christiani Kathleen B M Claes Frank Claessens Judith Clements J Margriet Collée Marcia Cruz Correa Fergus J Couch Angela Cox Julie M Cunningham Cezary Cybulski Kamila Czene Mary B Daly Anna deFazio Peter Devilee Orland Diez Manuela Gago-Dominguez Jenny L Donovan Thilo Dörk Eric J Duell Alison M Dunning Miriam Dwek Diana M Eccles Christopher K Edlund Digna R Velez Edwards Carolina Ellberg D Gareth Evans Peter A Fasching Robert L Ferris Triantafillos Liloglou Jane C Figueiredo Olivia Fletcher Renée T Fortner Florentia Fostira Silvia Franceschi Eitan Friedman Steven J Gallinger Patricia A Ganz Judy Garber José A García-Sáenz Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Ellen L Goode Marc T Goodman Gary Goodman Kjell Grankvist Mark H Greene Henrik Gronberg Jacek Gronwald Pascal Guénel Niclas Håkansson Per Hall Ute Hamann Freddie C Hamdy Robert J Hamilton Jochen Hampe Aage Haugen Florian Heitz Rolando Herrero Peter Hillemanns Michael Hoffmeister Estrid Høgdall Yun-Ch Program in Genetic Epidemiology and Statistical Genetics Harvard T.H. Chan School of Public Health 677 Huntington Ave Boston MA 02115 USA. xiajiang@hsph.harvard.edu. Unit of Cardiovascular Epidemiology Institute of Environmental Medicine Karolinska Institutet Nobels vagen 13 17177 Stockholm Sweden. xiajiang@hsph.harvard.edu. Department of Epidemiology Harvard T.H. Chan School of Public Health 677 Huntington Ave Boston MA 02115 USA. Program in Medical and Population Genetics Broad Institute of MIT and Harvard 75 Ames St Cambridge MA 02142 USA. Department of Population and Quantitative Health Sciences Case Western Reserve University 10900 Eucid Avenue Cleveland OH 44106 USA. Seidman Cancer Center University Hospitals Cleveland OH 44106 USA. Department of Cancer Epidemiology H. Lee Moffitt Cancer Center and Research Institute 12902 Magnolia Dr. MRC-CANCONT Tampa FL 33612 USA. Department of Gastrointestinal Oncology H. Lee Moffitt Cancer Center and Research Institute 12902 Magnolia Dr. MRC-CANCONT Tampa FL 33612 USA. Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge 2 Worts' Causeway Cambridge CB1 8RN UK. Department of Biomedical Data Science The Geisel School of Medicine at Dartmouth 1 Medical Center Drive Lebanon NH 03756 USA. Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge 2 Worts' Causeway Cambridge CB1 8RN UK. Department of Electron Microscopy/Molecular Pathology The Cyprus Institute of Neurology and Genetics 1683 Nicosia Cyprus. Genetic Epidemiology Group International Agency for Research on Cancer 150 Cours Albert Thomas 69008 Lyon France. Section of Genetics International Agency for Research on Cancer 150 cours Albert Thomas 69008 Lyon France. Division of Psychiatry University College London Maple House 149 Tottenham Court Road London W1T 7NF UK. UCL Genetics Institute University College London Gower Street London WC1E 6BT UK.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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