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Native diversity buffers against severity of non-native tree invasions ( vol 621,pg 773 , 2023 )

NATURE 2023年第7982期622卷 E2-E2页

作者： Delavaux, Camille S. Crowther, Thomas W. Zohner, Constantin M. Robmann, Niamh M. Lauber, Thomas van den Hoogen, Johan Kuebbing, Sara Liang, Jingjing de-Miguel, Sergio Nabuurs, Gert-Jan Reich, Peter B. Abegg, Meinrad Yao, Yves C. Adou Alberti, Giorgio Zambrano, Angelica M. Almeyda Alvarado, Braulio Vilchez Alvarez-Davila, Esteban Alvarez-Loayza, Patricia Alves, Luciana F. Ammer, Christian Anton-Fernandez, Clara Araujo-Murakami, Alejandro Arroyo, Luzmila Avitabile, Valerio Aymard, Gerardo A. Baker, Timothy R. Balazy, Radomir Banki, Olaf Barroso, Jorcely G. Bastian, Meredith L. Bastin, Jean-Francois Birigazzi, Luca Birnbaum, Philippe Bitariho, Robert Boeckx, Pascal Bongers, Frans Bouriaud, Olivier Brancalion, Pedro H. S. Brandl, Susanne Brienen, Roel Broadbent, Eben N. Bruelheide, Helge Bussotti, Filippo Gatti, Roberto Cazzolla Cesar, Ricardo G. Cesljar, Goran Chazdon, Robin Chen, Han Y. H. Chisholm, Chelsea Cho, Hyunkook Cienciala, Emil Clark, Connie Clark, David Colletta, Gabriel D. Coomes, David A. Valverde, Fernando Cornejo Corral-Rivas, Jose J. Crim, Philip M. Cumming, Jonathan R. Dayanandan, Selvadurai de Gasper, Andre L. Decuyper, Mathieu Derroire, Geraldine DeVries, Ben Djordjevic, Ilija Dolezal, Jiri Dourdain, Aurelie Obiang, Nestor Laurier Engone Enquist, Brian J. Eyre, Teresa J. Fandohan, Adande Belarmain Fayle, Tom M. Feldpausch, Ted R. Ferreira, Leandro V. Fischer, Markus Fletcher, Christine Frizzera, Lorenzo Gamarra, Javier G. P. Gianelle, Damiano Glick, Henry B. Harris, David J. Hector, Andrew Hemp, Andreas Hengeveld, Geerten Herault, Bruno Herbohn, John L. Herold, Martin Hillers, Annika Coronado, Euridice N. Honorio Hui, Cang Ibanez, Thomas T. Amaral, Ieda Imai, Nobuo Jagodzinski, Andrzej M. Jaroszewicz, Bogdan Johannsen, Vivian Kvist Joly, Carlos A. Jucker, Tommaso Jung, Ilbin Karminov, Viktor Kartawinata, Kuswata Kearsley, Elizabeth Kenfack, David Kennard, Deborah K. Kepfer-Rojas, Sebastian Keppel, Gunnar Khan, Mohammed Latif Killeen, Timothy J. Kim, Hyun Seok Kitayama, Kanehiro Kohl, Michael Korju Institute of Integrative Biology ETH Zurich (Swiss Federal Institute of Technology) Zurich Switzerland Department of Genetics Evolution and Environment University College London London UK The Forest School at The Yale School of the Environment Yale University New Haven CT USA Department of Forestry and Natural Resources Purdue University West Lafayette IN USA Department of Agriculture Forestry and Bioresources Seoul National University Seoul South Korea Department of Crop and Forest Sciences University of Lleida Lleida Spain Joint Research Unit CTFC–AGROTECNIO–CERCA Solsona Spain Wageningen University and Research Wageningen The Netherlands World Agroforestry (ICRAF) Nairobi Kenya Department of Forest Resources University of Minnesota St Paul MN USA Hawkesbury Institute for the Environment Western Sydney University Penrith New South Wales Australia Institute for Global Change Biology and School for Environment and Sustainability University of Michigan Ann Arbor MI USA Swiss Federal Institute for Forest Snow and Landscape Research WSL Birmensdorf Switzerland UFR Biosciences University Félix Houphouët-Boigny Abidjan Côte d’Ivoire Department of Agricultural Food Environmental and Animal Sciences University of Udine Udine Italy Faculty of Science and Technology Free University of Bolzano Bolzano Italy Spatial Ecology and Conservation Laboratory Department of Tourism Recreation and Sport Management University of Florida Gainesville FL USA Forestry School Tecnológico de Costa Rica TEC Cartago Costa Rica Fundacion ConVida Universidad Nacional Abierta y a Distancia UNAD Medellin Colombia Field Museum of Natural Histiory Chicago IL USA Center for Tropical Research Institute of the Environment and Sustainability UCLA Los Angeles CA USA Silviculture and Forest Ecology of the Temperate Zones University of Göttingen Göttingen Germany Division of Forest and Forest Resources Norwegian Institute of Bioeconomy Research (NIBIO) Ås Norway Museo de Hi

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Corrigendum to: More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis

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Chemical senses 2021年第46期46卷 bjab050页

作者： Valentina Parma Kathrin Ohla Maria G Veldhuizen Masha Y Niv Christine E Kelly Alyssa J Bakke Keiland W Cooper Cédric Bouysset Nicola Pirastu Michele Dibattista Rishemjit Kaur Marco Tullio Liuzza Marta Y Pepino Veronika Schöpf Veronica Pereda-Loth Shannon B Olsson Richard C Gerkin Paloma Rohlfs Domínguez Javier Albayay Michael C Farruggia Surabhi Bhutani Alexander W Fjaeldstad Ritesh Kumar Anna Menini Moustafa Bensafi Mari Sandell Iordanis Konstantinidis Antonella Di Pizio Federica Genovese Lina Öztürk Thierry Thomas-Danguin Johannes Frasnelli Sanne Boesveldt Özlem Saatci Luis R Saraiva Cailu Lin Jérôme Golebiowski Liang-Dar Hwang Mehmet Hakan Ozdener Maria Dolors Guàrdia Christophe Laudamiel Marina Ritchie Jan Havlícek Denis Pierron Eugeni Roura Marta Navarro Alissa A Nolden Juyun Lim Katherine L Whitcroft Lauren R Colquitt Camille Ferdenzi Evelyn V Brindha Aytug Altundag Alberto Macchi Alexia Nunez-Parra Zara M Patel Sébastien Fiorucci Carl M Philpott Barry C Smith Johan N Lundström Carla Mucignat Jane K Parker Mirjam van den Brink Michael Schmuker Florian Ph S Fischmeister Thomas Heinbockel Vonnie D C Shields Farhoud Faraji Enrique Santamaría William E A Fredborg Gabriella Morini Jonas K Olofsson Maryam Jalessi Noam Karni Anna D'Errico Rafieh Alizadeh Robert Pellegrino Pablo Meyer Caroline Huart Ben Chen Graciela M Soler Mohammed K Alwashahi Antje Welge-Lüssen Jessica Freiherr Jasper H B de Groot Hadar Klein Masako Okamoto Preet Bano Singh Julien W Hsieh Danielle R Reed Thomas Hummel Steven D Munger John E Hayes Department of Psychology Temple University Philadelphia PA USA. Institute of Neuroscience and Medicine (INM-3) Research Center Jülich Wilhelm-Johnen-Straße Jülich Germany. Department of Anatomy Faculty of Medicine Mersin University Çiftlikköy Campus Yenişehir Mersin Turkey. Institute of Biochemistry Food Science and Nutrition The Hebrew University of Jerusalem Rehovot Israel. AbScent Andover Hampshire UK. Department of Food Science The Pennsylvania State University Erickson Food Science Building University Park PA USA. Center for the Neurobiology of Learning and Memory University of California and Qureshey Research Laboratory Irvine CA USA. Institut de Chimie de Nice UMR CNRS 7272 Université Côte d'Azur Avenue Valrose Nice France. Centre for Global Health Research Usher Institute The University of Edinburgh Old Medical School Teviot Place Edinburgh UK. Department of Basic Medical Sciences Neuroscience and Sensory Organs Università degli Studi di Bari A. Moro P.zza G. Cesare Bari Italy. CSIR-Central Scientific Instruments Organisation Chandigarh India. Department of Medical and Surgical Sciences "Magna Graecia" University of Catanzaro Viale Europa (Loc. Germaneto) Catanzaro Italy. Department of Food Science and Human Nutrition and Division of Nutritional Sciences University of Illinois at Urbana Champaign Urbana IL USA. Department of Biomedical Imaging and Image-guided Therapy Medical University of Vienna Währinger Gürtel Vienna Austria. Laboratoire d'Anthropologie Moléculaire et Imagerie de Synthese UMR 5288 CNRS Universitéde Toulouse Toulouse France. National Centre for Biological Sciences Tata Institute of Fundamental Research GKVK Campus Bengaluru India. School of Life Sciences Arizona State University Tempe AZ USA. Department of Psychology and Anthropology University of Extremadura Avenida de la Universidad s/n Cáceres Spain. Department of General Psychology University of Padova Via Venezia Padova Italy. Department of Psychiatry

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Author Correction: The challenge of mapping the human connectome based on diffusion tractography

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Nature communications 2019年第1期10卷 5059页

作者： Klaus H Maier-Hein Peter F Neher Jean-Christophe Houde Marc-Alexandre Côté Eleftherios Garyfallidis Jidan Zhong Maxime Chamberland Fang-Cheng Yeh Ying-Chia Lin Qing Ji Wilburn E Reddick John O Glass David Qixiang Chen Yuanjing Feng Chengfeng Gao Ye Wu Jieyan Ma Renjie He Qiang Li Carl-Fredrik Westin Samuel Deslauriers-Gauthier J Omar Ocegueda González Michael Paquette Samuel St-Jean Gabriel Girard François Rheault Jasmeen Sidhu Chantal M W Tax Fenghua Guo Hamed Y Mesri Szabolcs Dávid Martijn Froeling Anneriet M Heemskerk Alexander Leemans Arnaud Boré Basile Pinsard Christophe Bedetti Matthieu Desrosiers Simona Brambati Julien Doyon Alessia Sarica Roberta Vasta Antonio Cerasa Aldo Quattrone Jason Yeatman Ali R Khan Wes Hodges Simon Alexander David Romascano Muhamed Barakovic Anna Auría Oscar Esteban Alia Lemkaddem Jean-Philippe Thiran H Ertan Cetingul Benjamin L Odry Boris Mailhe Mariappan S Nadar Fabrizio Pizzagalli Gautam Prasad Julio E Villalon-Reina Justin Galvis Paul M Thompson Francisco De Santiago Requejo Pedro Luque Laguna Luis Miguel Lacerda Rachel Barrett Flavio Dell'Acqua Marco Catani Laurent Petit Emmanuel Caruyer Alessandro Daducci Tim B Dyrby Tim Holland-Letz Claus C Hilgetag Bram Stieltjes Maxime Descoteaux Division of Medical Image Computing German Cancer Research Center (DKFZ) Heidelberg 69120 Germany. k.maier-hein@dkfz.de. Division of Medical Image Computing German Cancer Research Center (DKFZ) Heidelberg 69120 Germany. Sherbrooke Connectivity Imaging Lab (SCIL) Université de Sherbrooke Sherbrooke QC J1K 0A5 QC Canada. Department of Intelligent Systems Engineering School of Informatics and Computing Indiana University Bloomington IN 47408 USA. Krembil Research Institute University Health Network Toronto Canada M5G 2C4. Department of Neurological Surgery University of Pittsburgh School of Medicine Pittsburgh PA 15213 USA. IMT-Institute for Advanced Studies Lucca 55100 Italy. Department of Diagnostic Imaging St. Jude Children's Research Hospital Memphis TN 38105 USA. University of Toronto Institute of Medical Science Toronto Canada M5S 1A8. Institute of Information Processing and Automation Zhejiang University of Technology Hangzhou 310023 Zhejiang China. United Imaging Healthcare Co Shanghai 201807 China. Shanghai Advanced Research Institute Shanghai 201210 China. Laboratory of Mathematics in Imaging Harvard Medical School Boston MA 02215 USA. Center for Research in Mathematics Guanajuato 36023 Mexico. PROVIDI Lab Image Sciences Institute University Medical Center Utrecht Utrecht 3508 The Netherlands. Cardiff University Brain Research Imaging Centre School of Psychology Cardiff University Maindy Road Cardiff CF24 4HQ UK. Department of Radiology University Medical Center Utrecht Utrecht 3508 The Netherlands. Centre de recherche institut universitaire de geriatrie de Montreal (CRIUGM) Université de Montréal Montreal QC Canada H3W 1W5. Sorbonne Universités UPMC Univ Paris 06 CNRS INSERM Laboratoire d'Imagerie Biomédicale (LIB) 75013 Paris France. Center for Advanced Research in Sleep Medicine Hôpital du Sacré-Coeur de Montréal Montreal Canada H4J 1C5. Neuroimaging Unit Institute of Bioimaging and Molecular Physiology (IBFM) Nat

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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Author Correction: A consensus protocol for functional connectivity analysis in the rat brain

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Nature neuroscience 2023年 2023 Apr 18页

作者： Joanes Grandjean Gabriel Desrosiers-Gregoire Cynthia Anckaerts Diego Angeles-Valdez Fadi Ayad David A Barrière Ines Blockx Aleksandra Bortel Margaret Broadwater Beatriz M Cardoso Marina Célestine Jorge E Chavez-Negrete Sangcheon Choi Emma Christiaen Perrin Clavijo Luis Colon-Perez Samuel Cramer Tolomeo Daniele Elaine Dempsey Yujian Diao Arno Doelemeyer David Dopfel Lenka Dvořáková Claudia Falfán-Melgoza Francisca F Fernandes Caitlin F Fowler Antonio Fuentes-Ibañez Clément M Garin Eveline Gelderman Carla E M Golden Chao C G Guo Marloes J A G Henckens Lauren A Hennessy Peter Herman Nita Hofwijks Corey Horien Tudor M Ionescu Jolyon Jones Johannes Kaesser Eugene Kim Henriette Lambers Alberto Lazari Sung-Ho Lee Amanda Lillywhite Yikang Liu Yanyan Y Liu Alejandra López-Castro Xavier López-Gil Zilu Ma Eilidh MacNicol Dan Madularu Francesca Mandino Sabina Marciano Matthew J McAuslan Patrick McCunn Alison McIntosh Xianzong Meng Lisa Meyer-Baese Stephan Missault Federico Moro Daphne M P Naessens Laura J Nava-Gomez Hiroi Nonaka Juan J Ortiz Jaakko Paasonen Lore M Peeters Mickaël Pereira Pablo D Perez Marjory Pompilus Malcolm Prior Rustam Rakhmatullin Henning M Reimann Jonathan Reinwald Rodrigo Triana Del Rio Alejandro Rivera-Olvera Daniel Ruiz-Pérez Gabriele Russo Tobias J Rutten Rie Ryoke Markus Sack Piergiorgio Salvan Basavaraju G Sanganahalli Aileen Schroeter Bhedita J Seewoo Erwan Selingue Aline Seuwen Bowen Shi Nikoloz Sirmpilatze Joanna A B Smith Corrie Smith Filip Sobczak Petteri J Stenroos Milou Straathof Sandra Strobelt Akira Sumiyoshi Kengo Takahashi Maria E Torres-García Raul Tudela Monica van den Berg Kajo van der Marel Aran T B van Hout Roberta Vertullo Benjamin Vidal Roël M Vrooman Victora X Wang Isabel Wank David J G Watson Ting Yin Yongzhi Zhang Stefan Zurbruegg Sophie Achard Sarael Alcauter Dorothee P Auer Emmanuel L Barbier Jürgen Baudewig Christian F Beckmann Nicolau Beckmann Guillaume J P C Becq Erwin L A Blezer Radu Bolbos Susann Boretius Sandrine Bouvard Eike Budinger Joseph D Buxbaum Diana Cash Victor Donders Institute for Brain Behaviour and Cognition Radboud University Nijmegen The Netherlands. joanes.grandjean@radboudumc.nl. Department for Medical Imaging Radboud University Medical Center Nijmegen The Netherlands. joanes.grandjean@radboudumc.nl. Cerebral Imaging Centre Douglas Mental Health University Institute Verdun QC Canada. Integrated Program in Neuroscience McGill University Montreal QC Canada. Bio-imaging Lab University of Antwerp Antwerp Belgium. µNEURO Research Centre of Excellence University of Antwerp Antwerp Belgium. Instituto de Neurobiología Universidad Nacional Autónoma de México Campus Juriquilla Querétaro Mexico. Biological and Biomedical Engineering McGill University Montreal QC Canada. McConnell Brain Imaging Centre McGill University Montreal QC Canada. Montreal Neurological Institute McGill University Montreal QC Canada. UMR INRAE/CNRS 7247 Physiologie des Comportements et de la Reproduction Physiologie de la reproduction et des comportements Centre de recherche INRAE de Nouzilly Tours France. Department of Neurology and Neurosurgery McGill University Montreal QC Canada. Center for Animal MRI University of North Carolina at Chapel Hill Chapel Hill NC USA. Department of Neurology University of North Carolina at Chapel Hill Chapel Hill NC USA. Biomedical Research Imaging Center University of North Carolina at Chapel Hill Chapel Hill NC USA. Preclinical MRI Champalimaud Research Champalimaud Centre for the Unknown Lisbon Portugal. Laboratoire des Maladies Neurodégénératives Molecular Imaging Research Center (MIRCen) Université Paris-Saclay Commissariat à l'Énergie Atomique et aux Énergies Alternatives (CEA) CNRS Fontenay-aux-Roses France. Departamento de Neurobiología Conductual y Cognitiva Instituto de Neurobiología Universidad Nacional Autónoma de México Campus Juriquilla Querétaro México. Translational Neuroimaging and Neural Control Group High-Field Magnetic Resonance Max Planck Institute for Biological Cyberneti

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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 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.

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Author Correction: The power of genetic diversity in genome-wide association studies of lipids

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Nature 2023年第7965期618卷 E19-E20页

作者： Sarah E Graham Shoa L Clarke Kuan-Han H Wu Stavroula Kanoni Greg J M Zajac Shweta Ramdas Ida Surakka Ioanna Ntalla Sailaja Vedantam Thomas W Winkler Adam E Locke Eirini Marouli Mi Yeong Hwang Sohee Han Akira Narita Ananyo Choudhury Amy R Bentley Kenneth Ekoru Anurag Verma Bhavi Trivedi Hilary C Martin Karen A Hunt Qin Hui Derek Klarin Xiang Zhu Gudmar Thorleifsson Anna Helgadottir Daniel F Gudbjartsson Hilma Holm Isleifur Olafsson Masato Akiyama Saori Sakaue Chikashi Terao Masahiro Kanai Wei Zhou Ben M Brumpton Humaira Rasheed Sanni E Ruotsalainen Aki S Havulinna Yogasudha Veturi QiPing Feng Elisabeth A Rosenthal Todd Lingren Jennifer Allen Pacheco Sarah A Pendergrass Jeffrey Haessler Franco Giulianini Yuki Bradford Jason E Miller Archie Campbell Kuang Lin Iona Y Millwood George Hindy Asif Rasheed Jessica D Faul Wei Zhao David R Weir Constance Turman Hongyan Huang Mariaelisa Graff Anubha Mahajan Michael R Brown Weihua Zhang Ketian Yu Ellen M Schmidt Anita Pandit Stefan Gustafsson Xianyong Yin Jian'an Luan Jing-Hua Zhao Fumihiko Matsuda Hye-Mi Jang Kyungheon Yoon Carolina Medina-Gomez Achilleas Pitsillides Jouke Jan Hottenga Gonneke Willemsen Andrew R Wood Yingji Ji Zishan Gao Simon Haworth Ruth E Mitchell Jin Fang Chai Mette Aadahl Jie Yao Ani Manichaikul Helen R Warren Julia Ramirez Jette Bork-Jensen Line L Kårhus Anuj Goel Maria Sabater-Lleal Raymond Noordam Carlo Sidore Edoardo Fiorillo Aaron F McDaid Pedro Marques-Vidal Matthias Wielscher Stella Trompet Naveed Sattar Line T Møllehave Betina H Thuesen Matthias Munz Lingyao Zeng Jianfeng Huang Bin Yang Alaitz Poveda Azra Kurbasic Claudia Lamina Lukas Forer Markus Scholz Tessel E Galesloot Jonathan P Bradfield E Warwick Daw Joseph M Zmuda Jonathan S Mitchell Christian Fuchsberger Henry Christensen Jennifer A Brody Mary F Feitosa Mary K Wojczynski Michael Preuss Massimo Mangino Paraskevi Christofidou Niek Verweij Jan W Benjamins Jorgen Engmann Rachel L Kember Roderick C Slieker Ken Sin Lo Nuno R Zilhao Phuong Le Marcus E Kleber Graciela E Delgado Shaofeng Huo Dai Department of Internal Medicine Division of Cardiology University of Michigan Ann Arbor MI USA. VA Palo Alto Health Care System Palo Alto CA USA. Department of Medicine Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA. Department of Computational Medicine and Bioinformatics University of Michigan Ann Arbor MI USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK. Department of Biostatistics and Center for Statistics Genetics University of Michigan Ann Arbor MI USA. Department of Genetics Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Clinical Pharmacology William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK. Endocrinology Boston Children's Hospital Boston MA USA. Medical and Population Genetics Broad Institute Cambridge MA USA. Department of Genetic Epidemiology University of Regensburg Regensburg Germany. McDonnell Genome Institute and Department of Medicine Washington University St Louis MO USA. Department of Precision Medicine Division of Genome Science National Institute of Health Cheongju-si South Korea. Tohoku Medical Megabank Organization Tohoku University Sendai Japan. Sydney Brenner Institute for Molecular Bioscience Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa. Center for Research on Genomics and Global Health National Human Genome Research Institute National Institutes of Health Bethesda MD USA. Blizard Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK. Wellcome Sanger Institute Hinxton UK. Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA. Atlanta VA Health Care System Decatur GA USA. Malcolm Randall VA Medical Center Gainesville FL USA. Division of Vascular Sur

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

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npj Genomic Medicine 2024年第1期9卷 49页

作者： Demidov, German Yaldiz, Burcu Garcia-Pelaez, José de Boer, Elke Schuermans, Nika Van de Vondel, Liedewei Paramonov, Ida Johansson, Lennart F. Musacchia, Francesco Benetti, Elisa Bullich, Gemma Sablauskas, Karolis Beltran, Sergi Gilissen, Christian Hoischen, Alexander Ossowski, Stephan de Voer, Richarda Lohmann, Katja Oliveira, Carla Topf, Ana Vissers, Lisenka E. L. M. Zguro, Kristina Zara, Federico Zaganas, Ioannis Yépez, Vicente A. Wirth, Brunhilde Webb, David Verdin, Hannah Van Nieuwenhove, Erika van Montfrans, Joris van Heurck, Roxane van der Veken, Lars Valle, Laura Uva, Paolo Udd, Bjarne Trimouille, Aurelien Thompson, Rachel Tartaglia, Marco Sznajer, Yves Striano, Pasquale Steinke-Lange, Verena Spilioti, Martha Scudieri, Paolo Schröck, Evelin Schon, Katherine Scala, Marcello Savarese, Marco Santen, Gijs W. E. Rump, Andreas Ruivenkamp, Claudia A. L. Roos, Andreas Rooryck, Caroline Riva, Antonella Renieri, Alessandra Ratnaike, Thiloka Radio, Francesca Clementina Privitera, Flavia De la Paz, Manuel Posada Poppe, Bruce Polavarapu, Kiran Platzer, Konrad Peterlin, Borut Pérez-Dueñas, Belén Pauly, Martje Parrini, Elena Olimpio, Catarina Reghan, Mary O. de Benito, Daniel Natera Osorio, Andrés Nascimento Munell, Francina Münchau, Alexander Moortgat, Stéphanie Monestier, Olivier Molnar, Maria Judit Meunier, Colombine Mertes, Christian Mei, Davide Maystadt, Isabelle May, Patrick Maver, Ales Mathioudakis, Lambros Masclaux, Frédéric Mary, Sandrine Delgado, Beatriz Martínez Marcé-Grau, Anna Malaichamy, Sivasankar Macaya, Alfons Luknárová, Rebeka Martín, Estrella López Lochmüller, Hanns Leitão, Elsa Lederer, Damien Leavis, Helen Laner, Andreas Lacombe, Didier Krass, Leon Korff, Christian Kokosali, Evgenia Karakaya, Mert Karadurmus, Deniz Kapaki, Elisabeth Johari, Mridul Iacomino, Michele Huibers, Manon Horvath, Rita Holinski-Feder, Elke Hoffer, Mariette J. V. Herzog, Rebecca Hemelsoet, Dimitri Bouveret, Eva Hammar Haimel, Matthias Hackman, Peter Guerrini, Renzo Grimbacher, Bodo Greally, Marie Ghani, Hamidah Gagneur, Julien Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany Institute for Bioinformatics and Medical Informatics (IBMI) University of Tübingen Tübingen Germany Department of Human Genetics Radboud University Medical Center Nijmegen Netherlands Department of Clinical Genetics Maastricht University Medical Center Maastricht Netherlands i3S - Instituto de Investigação e Inovação em Saúde Rua Alfredo Allen 208 Porto 4200-135 Portugal IPATIMUP - Institute of Molecular Pathology and Immunology University of Porto Porto Portugal Faculty of Medicine University of Porto Porto Portugal Donders Institute for Brain Cognition and Behaviour Radboud University Nijmegen Netherlands Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam Netherlands Center for Medical Genetics Ghent University Hospital Ghent Belgium Translational Neurosciences Faculty of Medicine and Health Sciences University of Antwerp Antwerp Belgium Laboratory of Neuromuscular Pathology Institute Born-Bunge University of Antwerp Antwerp Belgium Centro Nacional de Análisis Genómico (CNAG) C/Baldiri Reixac 4 Barcelona 08028 Spain Universitat de Barcelona (UB) Barcelona Spain University of Groningen University Medical Center Groningen Department of Genetics Groningen Netherlands Center for Human Technologies Italian Institute of Technology (IIT) Genova Italy Telethon Institute for Genetics and Medicine Pozzuoli (Napoli) 80078 Italy Department of Medical Biotechnologies Med Biotech Hub and Competence Center University of Siena Siena 53100 Italy Institute of Data Science and Digital Technologies Vilnius University Vilnius Lithuania Departament de Genètica Microbiologia i Estadística Facultat de Biologia Universitat de Barcelona (UB) Barcelona Spain Radboud Institute for Molecular Life Sciences Nijmegen Netherlands Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI) Radboud University Medical Center Nijmegen N

We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research groups across Europe partnering in the Solve-RD project. Each research group had previously undertaken their own analysis of the data but failed to identify disease-causing variants. We applied three CNV calling algorithms to maximise sensitivity, and rare CNVs overlapping genes of interest, provided by four partner European Reference Networks, were taken forward for interpretation by clinical experts. This reanalysis has resulted in a molecular diagnosis being provided to 51 families in this sample, with ClinCNV performing the best of the three algorithms. We also identified partially explanatory pathogenic CNVs in a further 34 individuals. This work illustrates the value of reanalysing ES cold cases for CNVs. © The Author(s) 2024.

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Global, regional, and national incidence of six major immune-mediated inflammatory diseases: findings from the global burden of disease study 2019

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eClinicalMedicine 2023年 64卷 102193-102193页

作者： Wu, Dongze Jin, Yingzhao Xing, Yuhan Abate, Melsew Dagne Abbasian, Mohammadreza Abbasi-Kangevari, Mohsen Abbasi-Kangevari, Zeinab Abd-Allah, Foad Abdelmasseh, Michael Abdollahifar, Mohammad-Amin Abdulah, Deldar Morad Abedi, Aidin Abedi, Vida Abidi, Hassan Aboagye, Richard Gyan Abolhassani, Hassan Abuabara, Katrina Abyadeh, Morteza Addo, Isaac Yeboah Adeniji, Kayode Nelson Adepoju, Abiola Victor Adesina, Miracle Ayomikun Adnani, Qorinah Estiningtyas Sakilah Afarideh, Mohsen Aghamiri, Shahin Agodi, Antonella Agrawal, Anurag Arriagada, Constanza Elizabeth Aguilera Ahmad, Aqeel Ahmad, Danish Ahmad, Sohail Ahmadi, Ali Ahmed, Ayman Aithala, Janardhana P. Ajadi, Abdullateef Abiodun Ajami, Marjan Akbarzadeh-Khiavi, Mostafa Alahdab, Fares AlBataineh, Mohammad T. Alemi, Sharifullah Al-Gheethi, Adel Ali Saeed Ali, Liaqat Alif, Sheikh Mohammad Almazan, Joseph Uy Almustanyir, Sami Alqahtani, Jaber S. Alqasmi, Ibrahim Altaf, Ihsan Ullah Khan Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Al-Worafi, Yaser Mohammed Aly, Hany Amani, Reza Amu, Hubert Amusa, Ganiyu Adeniyi Andrei, Catalina Liliana Ansar, Adnan Ansariniya, Hossein Anyasodor, Anayochukwu Edward Arabloo, Jalal Arefnezhad, Reza Arulappan, Judie Asghari-Jafarabadi, Mohammad Ashraf, Tahira Atata, Jamila Abdulhamid Athari, Seyyed Shamsadin Atlaw, Daniel Atout, Maha Moh'd Wahbi Aujayeb, Avinash Awan, Asma Tahir Ayatollahi, Haleh Azadnajafabad, Sina Azzam, Ahmed Y. Badawi, Alaa Badiye, Ashish D. Bagherieh, Sara Baig, Atif Amin Bantie, Berihun Bantie Barchitta, Martina Bardhan, Mainak Barker-Collo, Suzanne Lyn Barone-Adesi, Francesco Batra, Kavita Bayileyegn, Nebiyou Simegnew Behnoush, Amir Hossein Belgaumi, Uzma Iqbal Bemanalizadeh, Maryam Bensenor, Isabela M. Beyene, Kebede A. Bhagavathula, Akshaya Srikanth Bhardwaj, Pankaj Bhaskar, Sonu Bhat, Ajay Nagesh Bitaraf, Saeid Bitra, Veera R. Boloor, Archith Bora, Kaustubh Botelho, João Silva Buchbinder, Rachelle Calina, Daniela Cámera, Luis Alberto Carvalho, Andre F. Chan, Jeffrey Shi Kai Chattu, Vijay Kumar Abebe, Endeshaw Chekol Department of Rheumatology and Immunology Sichuan Provincial People's Hospital School of Medicine University of Electronic Science and Technology of China China Department of Medicine & Therapeutics The Chinese University of Hong Kong Hong Kong Department of Paediatrics The Chinese University of Hong Kong Hong Kong School of Pharmacy The Chinese University of Hong Kong Hong Kong Jockey Club School of Public Health and Primary Care The Chinese University of Hong Kong Hong Kong Department of Nursing Woldia University Woldia Ethiopia Department of Orthopedic Surgery Harvard University Boston MA United States Postgraduate Medical Education Harvard University Boston MA United States Maternal Fetal Care Center Harvard University Boston MA United States Department of Health Policy and Oral Epidemiology Harvard University Boston MA United States Division of General Internal Medicine Harvard University Boston MA United States Department of Orthopaedic Surgery Shahid Beheshti University of Medical Sciences Tehran Iran Social Determinants of Health Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Biotechnology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Epidemiology Shahid Beheshti University of Medical Sciences Tehran Iran National Nutrition and Food Technology Research Institute Shahid Beheshti University of Medical Sciences Tehran Iran Department of Immunology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Neurology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Medical Genetics Shahid Beheshti University of Medical Sciences Tehran Iran Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences Tehran Iran Cancer Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Health Economics and Statistics Shahid Beheshti University of Medical Sciences Tehran Iran Functional Neuro

Background: The causes for immune-mediated inflammatory diseases (IMIDs) are diverse and the incidence trends of IMIDs from specific causes are rarely studied. The study aims to investigate the pattern and trend of IMIDs from 1990 to 2019. Methods: We collected detailed information on six major causes of IMIDs, including asthma, inflammatory bowel disease, multiple sclerosis, rheumatoid arthritis, psoriasis, and atopic dermatitis, between 1990 and 2019, derived from the Global Burden of Disease study in 2019. The average annual percent change (AAPC) in number of incidents and age standardized incidence rate (ASR) on IMIDs, by sex, age, region, and causes, were calculated to quantify the temporal trends. Findings: In 2019, rheumatoid arthritis, atopic dermatitis, asthma, multiple sclerosis, psoriasis, inflammatory bowel disease accounted 1.59%, 36.17%, 54.71%, 0.09%, 6.84%, 0.60% of overall new IMIDs cases, respectively. The ASR of IMIDs showed substantial regional and global variation with the highest in High SDI region, High-income North America, and United States of America. Throughout human lifespan, the age distribution of incident cases from six IMIDs was quite different. Globally, incident cases of IMIDs increased with an AAPC of 0.68 and the ASR decreased with an AAPC of −0.34 from 1990 to 2019. The incident cases increased across six IMIDs, the ASR of rheumatoid arthritis increased (0.21, 95% CI 0.18, 0.25), while the ASR of asthma (AAPC = −0.41), inflammatory bowel disease (AAPC = −0.72), multiple sclerosis (AAPC = −0.26), psoriasis (AAPC = −0.77), and atopic dermatitis (AAPC = −0.15) decreased. The ASR of overall and six individual IMID increased with SDI at regional and global level. Countries with higher ASR in 1990 experienced a more rapid decrease in ASR. Interpretation: The incidence patterns of IMIDs varied considerably across the world. Innovative prevention and integrative management strategy are urgently needed to mitigate the increasing ASR of rh

关键词： Global burden of disease study Immune-mediated inflammatory disease Incidence Trend

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