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Author Correction: Low-dimensional organization of angular momentum during walking on a narrow beam

Scientific reports 2018年第1期8卷 6362页

作者： Enrico Chiovetto Meghan E Huber Dagmar Sternad Martin A Giese Section for Computational Sensomotorics Department of Cognitive Neurology Hertie Institute for Clinical Brain Research Centre for Integrative Neuroscience University Clinic Tübingen Tübingen Germany. enrico.chiovetto@klinikum.uni-tuebingen.de. Department of Mechanical Engineering Massachusetts Institute of Technology Cambridge Massachusetts USA. Departments of Biology Electrical and Computer Engineering Physics and Physical Therapy Movement Science and Rehabilitation Northeastern University Boston Massachusetts USA. Section for Computational Sensomotorics Department of Cognitive Neurology Hertie Institute for Clinical Brain Research Centre for Integrative Neuroscience University Clinic Tübingen Tübingen Germany.

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.

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Genomic basis for RNA alterations in cancer (vol 578, pg 129, 2020)

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NATURE 2023年第7948期614卷 E37-E37页

作者： Calabrese, Claudia Davidson, Natalie R. Demircioglu, Deniz Fonseca, Nuno A. He, Yao Lehmann, Kjong-Van Liu, Fenglin Shiraishi, Yuichi Soulette, Cameron M. Urban, Lara Greger, Liliana Li, Siliang Liu, Dongbing Perry, Marc D. Xiang, Qian Zhang, Fan Zhang, Junjun Bailey, Peter Erkek, Serap Hoadley, Katherine A. Hou, Yong Huska, Matthew R. Kilpinen, Helena Korbel, Jan O. Marin, Maximillian G. Markowski, Julia Nandi, Tannistha Pan-Hammarstrom, Qiang Pedamallu, Chandra Sekhar Siebert, Reiner Stark, Stefan G. Su, Hong Tan, Patrick Waszak, Sebastian M. Yung, Christina Zhu, Shida Awadalla, Philip Creighton, Chad J. Meyerson, Matthew Ouellette, B. F. Francis Wu, Kui Yang, Huanming Brazma, Alvis Brooks, Angela N. Goke, Jonathan Ratsch, Gunnar Schwarz, Roland F. Stegle, Oliver Zhang, Zemin European Molecular Biology Laboratory European Bioinformatics Institute Hinxton UK European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany CIBIO/InBIO - Research Center in Biodiversity and Genetic Resources Universidade do Porto Vairão Portugal Berlin Institute for Medical Systems Biology Max Delbruck Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) partner site Berlin Germany German Cancer Research Center (DKFZ) Heidelberg Germany Berlin Institute for Medical Systems Biology Max Delbrück Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) Partner site Berlin Berlin Germany European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Division of Computational Genomics and Systems Genetics German Cancer Research Center (DKFZ) Heidelberg Germany ETH Zurich Zurich Switzerland Memorial Sloan Kettering Cancer Center New York NY USA Weill Cornell Medical College New York NY USA SIB Swiss Institute of Bioinformatics Lausanne Switzerland University Hospital Zurich Zurich Switzerland Computational Biology Center Memorial Sloan Kettering Cancer Center New York NY USA Department of Biology ETH Zurich Zürich Switzerland Department of Computer Science ETH Zurich Zurich Switzerland Korea University Seoul South Korea Computational and Systems Biology Program Memorial Sloan Kettering Cancer Center New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine New York NY USA National University of Singapore Singapore Singapore Genome Institute of Singapore Singapore Singapore Computational and Systems Biology Genome Institute of Singap

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Patterns of somatic structural variation in human cancer genomes (vol 578, pg 112, 2020)

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NATURE 2023年第7948期614卷 E38-E38页

作者： Li, Yilong Roberts, Nicola D. Wala, Jeremiah A. Shapira, Ofer Schumacher, Steven E. Kumar, Kiran Khurana, Ekta Waszak, Sebastian Korbel, Jan O. Haber, James E. Imielinski, Marcin Weischenfeldt, Joachim Beroukhim, Rameen Campbell, Peter J. Cancer Genome Project Wellcome Trust Sanger Institute Hinxton UK Totient Inc Cambridge MA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Haematology University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Korea Advanced Institute of Science and Technology Daejeon South Korea Department of Zoology Genetics and Physical Anthropology University of Santiago de Compostela Santiago de Compostela Spain Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) University of Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain Centre for Research in Molecular Medicine and Chronic Diseases (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain Department of Zoology Genetics and Physical Anthropology (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain The Broad Institute of Harvard and MIT Cambridge MA USA Bioinformatics and Integrative Genomics Harvard University Cambridge MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Harvard Medical School Boston MA USA Massachusetts General Hospital Center for Cancer Research Charlestown MA USA Dana-Farber Cancer Institute Boston MA USA Department of Biostatistics and Computational Biology Dana-Farber Cancer Institute and Harvard Medical School Boston MA USA Weill Cornell Medical College New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine Ne

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Implementation of the chinese chess game with the computer using artificial intelligence

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ICIC Express Letters, Part B: Applications 2016年第6期7卷 1353-1358页

作者： Su, Kuo-Lan Su, Shen-Ta Hsia, Kuo-Hsien Li, Bo-Yi Graduate School of Electrical Engineering National Yunlin University of Science and Technology No. 123 University Road Section 3 Douliou Yunlin64002 Taiwan Graduate School of Engineering Science and Technology National Yunlin University of Science and Technology No. 123 University Road Section 3 Douliou Yunlin64002 Taiwan Department of Computer Science and Information Engineering Far East University No. 49 Zhonghua Road Xinshi Tainan74448 Taiwan

The article develops the decision rules to win each set of the Chinese chess game using artificial intelligent method, and presents the movement scenarios of the chesses using mobile robots on the chessboard platform. Users play the Chinese chess game with the supervised computer using the mouse according to the evaluation algorithm of the game rules on the user interface. The user interface of the supervised computer controls mobile robots according to the programmed motion paths of the chesses moving on the platform via wireless RF interface. We use the enhanced A* searching algorithm to solve the shortest path problem of the assigned chess. The supervised computer will select which chess moving to the best position to win the set using artificial intelligent method. Then we use simulation method to display the motion paths of the assigned chesses on the user interface. The supervised computer implements the simulation results on the chessboard platform using mobile robots. Finally, we make a famous set to be called "seven stars in one" to implement the proposed method. © 2016 ICIC International.

关键词： Mobile robots

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Middle East and North African Health Informatics Association (MENAHIA): Building Sustainable Collaboration

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Yearbook of Medical Informatics 2018年第1期27卷 286-291页

作者： Najeeb Al-Shorbaji Mowafa Househ Adel Taweel Abdullah Alanizi Bennani Othmani Mohammed Haitham Abaza Hala Bawadi Hamayon Rasuly Khalid Alyafei Luis Fernandez-Luque Mohamed Shouman Osama El-Hassan Rada Hussein Riyad Alshammari Salah Mandil Sarah Shouman Shahrad Taheri Tamer Emara Wasmiya Dalhem Zaid Al-Hamdan Zineb Serhier eHealth and Knowledge Management Consultant Retired Director of Knowledge Ethics and Research Department WHO/HQ Amman Jordan Department of Health Informatics College of Public Health and Health Informatics King Saud Bin Abdulaziz University for Health Sciences Ministry of National Guard-Health Affairs Riyadh Saudi Arabia Department of Computer Science BirZeit University Ramallah Palestine Head of Medical Informatics Unit 20 August Hospital Ibn Rochd University Hospital Casablanca Head of Casablanca Medical Informatics Laboratory Medical Faculty of Casablanca Morocco Department of Biomedical Engineering Misr University for Science & Technology Cairo Egypt Associate Professor College of Nursing University of Jordan Amman Jordan eHealth Program Coordinator Bamyan Provincial Hospital Bamyan City Afghanistan Chief Medical Informatics Officer (CMIO) - SIDRA Assistant Professor Clinical Pediatrics at Weill Cornell Medicine Qatar Qatar Computing Research Institute Hamad Bin Khalifa University Doha Qatar Faculty of Medicine Ain Shams University Cairo Egypt Vice-Chair of Emirates Health Informatics Society Head of eHealth Section at Dubai Health Authority Dubai United Arab Emirates Founder and Former Director of the Biomedical Informatics Center of Excellence (BMICoE) Information Technology Institute (ITI) Ministry of Communications and Information Technology (MCIT) Egypt President of Saudi Association for Health Informatics Riyadh Saudi Arabia Senior Consultant on eStrategies and eHealth to WHO and ITU Geneva Switzerland Department of Medicine Weill Cornell Medical College in Qatar Qatar Foundation Doha Qatar Executive Director of Nursing Informatics Hamad Medical Corporation Qatar Associate Professor of Nursing Management Faculty of Nursing Jordan University of Science and Technology Irbid Jordan Professor at Medical Informatics Laboratory Faculty of Medicine and Pharmacy Hassan II University Casablanca Morocco

There has been a growing interest in Health Informatics applications, research, and education within the Middle East and North African Region over the past twenty years. People of this region share similar cultural and religious values, primarily speak the Arabic language, and have similar health care related issues, which are in dire need of being addressed. Health Informatics efforts, organizations, and initiatives within the region have been largely under-represented within, but not ignored by, the International Medical Informatics Association (IMIA). Attempts to create bonds and collaboration between the different organizations of the region have remained scattered, and often, resulted in failure despite the fact that the need for a united health informatics collaborative within the region has never been more crucial than today. During the 2017 MEDINFO, held in Hangzhou, China, a new organization, the Middle East and North African Health Informatics Association (MENAHIA) was conceived as a regional non-governmental organization to promote and facilitate health informatics uptake within the region endorsing health informatics research and educational initiatives of the 22 countries represented within the region. This paper provides an overview of the collaboration and efforts to date in forming MENAHIA and displays the variety of initiatives that are already occurring within the MENAHIA region, which MENAHIA will help, endorse, support, share, and improve within the international forum of health informatics.

关键词： eHealth Middle East and North Africa Health Informatics collaboration MENAHIA Universal Health Coverage Bioinformatics International Medical Informatics Association

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Authorship Correction: International Changes in COVID-19 Clinical Trajectories Across 315 Hospitals and 6 Countries: Retrospective Cohort Study

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Journal of medical Internet research 2021年第11期23卷 e34625页

作者： Griffin M Weber Harrison G Zhang Sehi L'Yi Clara-Lea Bonzel Chuan Hong Paul Avillach Alba Gutiérrez-Sacristán Nathan P Palmer Amelia Li Min Tan Xuan Wang William Yuan Nils Gehlenborg Anna Alloni Danilo F Amendola Antonio Bellasi Riccardo Bellazzi Michele Beraghi Mauro Bucalo Luca Chiovato Kelly Cho Arianna Dagliati Hossein Estiri Robert W Follett Noelia García Barrio David A Hanauer Darren W Henderson Yuk-Lam Ho John H Holmes Meghan R Hutch Ramakanth Kavuluru Katie Kirchoff Jeffrey G Klann Ashok K Krishnamurthy Trang T Le Molei Liu Ne Hooi Will Loh Sara Lozano-Zahonero Yuan Luo Sarah Maidlow Adeline Makoudjou Alberto Malovini Marcelo Roberto Martins Bertrand Moal Michele Morris Danielle L Mowery Shawn N Murphy Antoine Neuraz Kee Yuan Ngiam Marina P Okoshi Gilbert S Omenn Lav P Patel Miguel Pedrera Jiménez Robson A Prudente Malarkodi Jebathilagam Samayamuthu Fernando J Sanz Vidorreta Emily R Schriver Petra Schubert Pablo Serrano Balazote Byorn Wl Tan Suzana E Tanni Valentina Tibollo Shyam Visweswaran Kavishwar B Wagholikar Zongqi Xia Daniela Zöller Isaac S Kohane Tianxi Cai Andrew M South Gabriel A Brat Department of Biomedical Informatics Harvard Medical School Boston MA United States. BIOMERIS (BIOMedical Research Informatics Solutions) Pavia Italy. Clinical Research Unit Botucatu Medical School São Paulo State University Botucatu Brazil. Division of Nephrology Department of Medicine Ente Ospedaliero Cantonale Lugano Switzerland. Department of Electrical Computer and Biomedical Engineering University of Pavia Pavia Italy. Information Technology Department Azienda Socio-Sanitaria Territoriale di Pavia Pavia Italy. Unit of Internal Medicine and Endocrinology Istituti Clinici Scientifici Maugeri SpA SB IRCCS Pavia Italy. Massachusetts Veterans Epidemiology Research and Information Center Veterans Affairs Boston Healthcare System Boston MA United States. Department of Electrical Computer and Biomedical Engineering University of Pavia Pavia Italy. Department of Medicine Massachusetts General Hospital Boston MA United States. Department of Medicine David Geffen School of Medicine University of California Los Angeles Los Angeles CA United States. Health Informatics Hospital Universitario 12 de Octubre Madrid Spain. Department of Learning Health Sciences University of Michigan Medical School Ann Arbor MI United States. Department of Biomedical Informatics University of Kentucky Lexington KY United States. Department of Biostatistics Epidemiology and Informatics University of Pennsylvania Perelman School of Medicine Philadelphia PA United States. Institute for Biomedical Informatics University of Pennsylvania Perelman School of Medicine Philadelphia PA United States. Department of Preventive Medicine Northwestern University Chicago IL United States. Institute for Biomedical Informatics University of Kentucky Lexington KY United States. Medical University of South Carolina Charleston SC United States. Department of Computer Science Renaissance Computing Institute University of North Carolina at Chapel Hill Chapel Hill NC United States. Departm

[This corrects the article DOI: 10.2196/31400.].

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Global investments in pandemic preparedness and COVID-19: development assistance and domestic spending on health between 1990 and 2026

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The Lancet Global Health 2023年第3期11卷 e385-e413页

作者： Micah, Angela E. Bhangdia, Kayleigh Cogswell, Ian E. Lasher, Dylan Lidral-Porter, Brendan Maddison, Emilie R. Nguyen, Trang Nhu Ngoc Patel, Nishali Pedroza, Paola Solorio, Juan Stutzman, Hayley Tsakalos, Golsum Wang, Yifeng Warriner, Wesley Zhao, Yingxi Zlavog, Bianca S. Abbafati, Cristiana Abbas, Jaffar Abbasi-Kangevari, Mohsen Abbasi-Kangevari, Zeinab Abdelmasseh, Michael Abdulah, Deldar Morad Abedi, Aidin Abegaz, Kedir Hussein Abhilash, E.S. Aboagye, Richard Gyan Abolhassani, Hassan Abrigo, Michael R.M. Abubaker Ali, Hiwa Abu-Gharbieh, Eman Adem, Mohammed Hussien Afzal, Muhammad Sohail Ahmadi, Ali Ahmed, Haroon Ahmed Rashid, Tarik Aji, Budi Akbarialiabad, Hossein Akelew, Yibeltal Al Hamad, Hanadi Alam, Khurshid Alanezi, Fahad Mashhour Alanzi, Turki M. Al-Hanawi, Mohammed Khaled Alhassan, Robert Kaba Aljunid, Syed Mohamed Almustanyir, Sami Al-Raddadi, Rajaa M. Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Ameyaw, Edward Kwabena Amini-Rarani, Mostafa Amu, Hubert Ancuceanu, Robert Andrei, Tudorel Anwar, Sumadi Lukman Appiah, Francis Aqeel, Muhammad Arabloo, Jalal Arab-Zozani, Morteza Aravkin, Aleksandr Y. Aremu, Olatunde Aruleba, Raphael Taiwo Athari, Seyyed Shamsadin Avila-Burgos, Leticia Ayanore, Martin Amogre Azari, Samad Baig, Atif Amin Bantie, Abere Tilahun Barrow, Amadou Baskaran, Pritish Basu, Sanjay Batiha, Abdul-Monim Mohammad Baune, Bernhard T. Berezvai, Zombor Bhardwaj, Nikha Bhardwaj, Pankaj Bhaskar, Sonu Boachie, Micheal Kofi Bodolica, Virginia Botelho, João Silva Botelho Braithwaite, Dejana Breitborde, Nicholas J.K. Busse, Reinhard Cahuana-Hurtado, Lucero Catalá-López, Ferrán Chansa, Collins Charan, Jaykaran Chattu, Vijay Kumar Chen, Simiao Chukwu, Isaac Sunday Dadras, Omid Dandona, Lalit Dandona, Rakhi Dargahi, Abdollah Debela, Sisay Abebe Denova-Gutiérrez, Edgar Desye, Belay Dharmaratne, Samath Dhamminda Diao, Nancy Doan, Linh Phuong Dodangeh, Milad dos Santos, Wendel Mombaque Doshmangir, Leila Dube, John Eini, Ebrahim El Sayed Zaki, Maysaa El Tantawi, Maha Enyew, Daniel Berhanie Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Applied Mathematics University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Nuffield Department of Medicine University of Oxford Oxford United Kingdom Department of Juridical and Economic Studies La Sapienza University Rome Italy Antai College of Economics Shanghai Jiao Tong University Shanghai China Non-communicable Diseases Research Center Tehran University of Medical Sciences Tehran Iran Research Center for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Multiple Sclerosis Research Center Tehran University of Medical Sciences Tehran Iran Children’s Medical Center Tehran University of Medical Sciences Tehran Iran Department of Epidemiology and Biostatistics Tehran University of Medical Sciences Tehran Iran Tehran Heart Center Tehran University of Medical Sciences Tehran Iran Faculty of Medicine Tehran University of Medical Sciences Tehran Iran National Institute for Health Research Tehran University of Medical Sciences Tehran Iran Department of Pharmacology Tehran University of Medical Sciences Tehran Iran Department of Cardiology Tehran University of Medical Sciences Tehran Iran Sina Trauma and Surgery Research Center Tehran University of Medical Sciences Tehran Iran Digestive Diseases Research Institute Tehran University of Medical Sciences Tehran Iran Department of Neurology Tehran University of Medical Sciences Tehran Iran Social Determinants of Health Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Epidemiology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Health Economics and Statistics Shahid Beheshti University of Medical Sciences Tehran Iran Department of Neurosurgery Shahid Beheshti University of Medical Sciences Tehran Iran Ophthalmic R

Background: The COVID-19 pandemic highlighted gaps in health surveillance systems, disease prevention, and treatment globally. Among the many factors that might have led to these gaps is the issue of the financing of national health systems, especially in low-income and middle-income countries (LMICs), as well as a robust global system for pandemic preparedness. We aimed to provide a comparative assessment of global health spending at the onset of the pandemic;characterise the amount of development assistance for pandemic preparedness and response disbursed in the first 2 years of the COVID-19 pandemic;and examine expectations for future health spending and put into context the expected need for investment in pandemic preparedness. Methods: In this analysis of global health spending between 1990 and 2021, and prediction from 2021 to 2026, we estimated four sources of health spending: development assistance for health (DAH), government spending, out-of-pocket spending, and prepaid private spending across 204 countries and territories. We used the Organisation for Economic Co-operation and Development (OECD)'s Creditor Reporting System (CRS) and the WHO Global Health Expenditure Database (GHED) to estimate spending. We estimated development assistance for general health, COVID-19 response, and pandemic preparedness and response using a keyword search. Health spending estimates were combined with estimates of resources needed for pandemic prevention and preparedness to analyse future health spending patterns, relative to need. Findings: In 2019, at the onset of the COVID-19 pandemic, US$9·2 trillion (95% uncertainty interval [UI] 9·1–9·3) was spent on health worldwide. We found great disparities in the amount of resources devoted to health, with high-income countries spending $7·3 trillion (95% UI 7·2–7·4) in 2019;293·7 times the $24·8 billion (95% UI 24·3–25·3) spent by low-income countries in 2019. That same year, $43·1 billion in development assistance was provided

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Notes on "an anonymous multi-server authenticated key agreement scheme based on trust computing using smart card and biometrics"

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International Journal of Network Security 2016年第5期18卷 997-1000页

作者： Liu, Yanjun Chang, Chin-Chen Sun, Chin-Yu School of Computer Science and Technology Anhui University No. 111 Jiulong Rd. Hefei230601 China Department of Computer Science and Information Engineering Asia University No. 500 Lioufeng Rd. Wufeng Taichung413 Taiwan Department of Information Engineering and Computer Science Feng Chia University No. 100 Wenhwa Rd. Seatwen Taichung407 Taiwan Department of Computer Science National Tsing-Hua University No. 101 Section 2 Kuang-Fu Road Hsinchu Hsinchu30013 Taiwan

Nowadays, multi-server remote user authentication schemes have been studied extensively in the literature. Recently, Chuang and Chen proposed a multi-server authentication scheme based on trust computing using smart cards and biometrics. Their scheme is more efficient and can achieve more security requirements than other related schemes. However, we found that Chuang and Chen's scheme can disclose private information shared between a legal user and an authorized server to another server. Moreover, loss of smart card attacks can be amounted and user anonymity cannot be achieved.

关键词： Authentication

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Author Correction: Open-access quantitative MRI data of the spinal cord and reproducibility across participants, sites and manufacturers

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Scientific data 2021年第1期8卷 242页

作者： Julien Cohen-Adad Eva Alonso-Ortiz Mihael Abramovic Carina Arneitz Nicole Atcheson Laura Barlow Robert L Barry Markus Barth Marco Battiston Christian Büchel Matthew Budde Virginie Callot Anna J E Combes Benjamin De Leener Maxime Descoteaux Paulo Loureiro de Sousa Marek Dostál Julien Doyon Adam Dvorak Falk Eippert Karla R Epperson Kevin S Epperson Patrick Freund Jürgen Finsterbusch Alexandru Foias Michela Fratini Issei Fukunaga Claudia A M Gandini Wheeler-Kingshott Giancarlo Germani Guillaume Gilbert Federico Giove Charley Gros Francesco Grussu Akifumi Hagiwara Pierre-Gilles Henry Tomáš Horák Masaaki Hori James Joers Kouhei Kamiya Haleh Karbasforoushan Miloš Keřkovský Ali Khatibi Joo-Won Kim Nawal Kinany Hagen H Kitzler Shannon Kolind Yazhuo Kong Petr Kudlička Paul Kuntke Nyoman D Kurniawan Slawomir Kusmia René Labounek Maria Marcella Laganà Cornelia Laule Christine S Law Christophe Lenglet Tobias Leutritz Yaou Liu Sara Llufriu Sean Mackey Eloy Martinez-Heras Loan Mattera Igor Nestrasil Kristin P O'Grady Nico Papinutto Daniel Papp Deborah Pareto Todd B Parrish Anna Pichiecchio Ferran Prados Àlex Rovira Marc J Ruitenberg Rebecca S Samson Giovanni Savini Maryam Seif Alan C Seifert Alex K Smith Seth A Smith Zachary A Smith Elisabeth Solana Y Suzuki George Tackley Alexandra Tinnermann Jan Valošek Dimitri Van De Ville Marios C Yiannakas Kenneth A Weber Ii Nikolaus Weiskopf Richard G Wise Patrik O Wyss Junqian Xu NeuroPoly Lab Institute of Biomedical Engineering Polytechnique Montreal Montreal QC Canada. jcohen@polymtl.ca. Functional Neuroimaging Unit CRIUGM Université de Montréal Montreal QC Canada. jcohen@polymtl.ca. Mila - Quebec AI Institute Montreal QC Canada. jcohen@polymtl.ca. NeuroPoly Lab Institute of Biomedical Engineering Polytechnique Montreal Montreal QC Canada. Department of Radiology Swiss Paraplegic Centre Nottwil Switzerland. Centre for Advanced Imaging The University of Queensland Brisbane Australia. Department of Radiology University of British Columbia Vancouver BC Canada. Athinoula A. Martinos Center for Biomedical Imaging Department of Radiology Massachusetts General Hospital Charlestown MA USA. Department of Radiology Harvard Medical School Boston MA USA. Harvard-Massachusetts Institute of Technology Health Sciences & Technology Cambridge MA USA. School of Information Technology and Electrical Engineering The University of Queensland Brisbane Australia. NMR Research Unit Queen Square MS Centre UCL Queen Square Institute of Neurology Faculty of Brain Sciences University College London London UK. Department of Systems Neuroscience University Medical Center Hamburg-Eppendorf Hamburg Germany. Department of Neurosurgery Medical College of Wisconsin Milwaukee WI USA. Aix-Marseille Univ CNRS CRMBM Marseille France. APHM Hopital Universitaire Timone CEMEREM Marseille France. Vanderbilt University Institute of Imaging Science Vanderbilt University Medical Center Nashville TN USA. Department of Computer and Software Engineering Polytechnique Montreal Montreal Canada. CHU Sainte-Justine Research Centre Montreal QC Canada. Centre de Recherche CHUS CIMS Sherbrooke Canada. Sherbrooke Connectivity Imaging Lab (SCIL) Computer Science department Université de Sherbrooke Sherbrooke Canada. Université de Strasbourg CNRS ICube Strasbourg France. UHB - University Hospital Brno and Masaryk University Department of Radiology and Nuclear

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Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology

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Biological psychiatry. Cognitive neuroscience and neuroimaging 2025年

作者： Ana I Silva Ida E Sønderby George Kirov Abdel Abdellaoui Ingrid Agartz David Ames Nicola J Armstrong Eric Artiges Tobias Banaschewski Anne S Bassett Carrie E Bearden John Blangero Rune Boen Dorret I Boomsma Robin Bülow Nancy J Butcher Vince Calhoun Linda E Campbell Eva W C Chow Simone Ciufolini Michael C Craig Benedicto Crespo-Farroco Adam C Cunningham Shareefa Dalvie Eileen Daly Paola Dazzan Eco J C de Geus Greig I de Zubicaray Joanne L Doherty Gary Donohoe Mark Drakesmith Thomas Espeseth Vincent Frouin Hugh Garavan David C Glahn Naomi J Goodrich-Hunsaker Penny A Gowland Hans J Grabe Antoine Grigis Maria Gudbrandsen Boris A Gutman Jan Haavik Asta K Håberg Jeremy Hall Andreas Heinz Sarah Hohmann Jouke-Jan Hottenga Sébastien Jacquemont Neda Jahanshad Rachel K Jonas Derek K Jones Erik G Jönsson Sanne Koops Kuldeep Kumar Stephanie Le Hellard Herve Lemaitre Jingyu Liu Astri J Lundervold Jean-Luc Martinot Karen A Mather Donna M McDonald-McGinn Katie L McMahon Allan F McRae Sarah E Medland Clara A Moreau Kieran C Murphy Declan Murphy Robin M Murray Frauke Nees Michael J Owen Marie-Laure Paillère Martinot Diimitri Papadopoulos Orfanos Tomas Paus Luise Poustka Tiago Reis Marques David R Roalf Perminder S Sachdev Freda Scheffler J Eric Schmitt Gunter Schumann Vidar M Steen Dan J Stein Lachlan T Strike Alexander Teumer Anbupalam Thalamuthu Sophia I Thomopoulos Diana Tordesillas-Gutiérrez Julian N Trollor Anne Uhlmann Ariana Vajdi Dennis van 't Ent Therese van Amelsvoort Marianne B M van den Bree Dennis van der Meer Javier Vázquez-Bourgon Julio E Villalón-Reina Uwe Völker Henry Völzke Jacob A S Vorstman Lars T Westlye Nigel Williams Katharina Wittfeld Margaret J Wright Paul M Thompson Ole A Andreassen David E J Linden School for Mental Health and Neuroscience Department of Psychiatry and Neuropsychology Faculty of Health Medicine and Life Sciences Maastricht University Maastricht The Netherlands Neuroscience and Mental Health Innovation Institute Cardiff University Cardiff United Kingdom Center for Magnetic Resonance Research Department of Radiology University of Minnesota Minneapolis MN USA. Electronic address: silvaai@um.edu. Centre for Precision Psychiatry Institute of Clinical Medicine University of Oslo Oslo Norway Department of Medical Genetics Oslo University Hospital Oslo Norway KG Jebsen Centre for Neurodevelopmental Disorders University of Oslo Oslo Norway. Division of Psychological Medicine and Clinical Neurosciences Cardiff University Cardiff United Kingdom Centre for Neuropsychiatric Genetics and Genomics School of Medicine Cardiff University Cardiff United Kingdom. Department of Psychiatry Amsterdam UMC University of Amsterdam Amsterdam the Netherlands. Norwegian Centre for Mental Disorders Research (NORMENT) Institute of Clinical Medicine University of Oslo Oslo Norway Centre for Psychiatry Research Department of Clinical Neuroscience Karolinska Institutet & Stockholm Health Care Services Stockholm Region Stockholm Sweden Department of Psychiatric Research Diakonhjemmet Hospital Oslo Norway. University of Melbourne Academic Unit for Psychiatry of Old Age Kew Victoria Australia. Mathematics and Statistics Curtin University Perth WA Australia. Institut National de la Santé et de la Recherche Médicale INSERM U1299 "Trajectoires développementales et psychiatrie" Université Paris-Saclay Ecole Normale supérieure Paris-Saclay CNRS Centre Borelli Gif-sur-Yvette France Psychiatry Department EPS Barthélémy Durand Etampes Île-de-France France. Department of Child and Adolescent Psychiatry and Psychotherapy Central Institute of Mental Health Medical Faculty Mannheim University of Heidelberg Mannheim Germany. Clinical Genetics Research Program Centre for

BACKGROUND:Copy number variants (CNVs) increase risk for neurodevelopmental conditions. The neurobiological mechanisms linking these high-risk genetic variants to clinical phenotypes are largely unknown. An important question is whether brain abnormalities in individuals carrying CNVs are associated with their degree of penetrance. METHODS:We investigated if increased CNV-penetrance for schizophrenia and other developmental disorders was associated with variations in cortical and subcortical morphology. We pooled T1-weighted brain magnetic resonance imaging and genetic data from 22 cohorts from the ENIGMA-CNV consortium. In the main analyses, we included 9,268 individuals (aged 7 to 90 years, 54% females), from which we identified 398 carriers of 36 neurodevelopmental CNVs at 20 distinct loci. A secondary analysis was performed including additional neuroimaging data from the ENIGMA-22q consortium, including 274 carriers of the 22q11.2 deletion and 291 non-carriers. CNV-penetrance was estimated through penetrance scores that were previously generated from large cohorts of patients and controls. These scores represent the probability risk to develop either schizophrenia or other developmental disorders (including developmental delay, autism spectrum disorder and congenital malformations). RESULTS:For both schizophrenia and developmental disorders, increased penetrance scores were associated with lower surface area in the cerebral cortex and lower intracranial volume. For both conditions, associations between CNV-penetrance scores and cortical surface area were strongest in regions of the occipital lobes, specifically in the cuneus and lingual gyrus. CONCLUSIONS:Our findings link global and regional cortical morphometric features with CNV-penetrance, providing new insights into neurobiological mechanisms of genetic risk for schizophrenia and other developmental disorders.

关键词： autism neuroimaging psychiatric disorders schizophrenia structural imaging

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