Paper Review Records
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15 篇有效样本 · 按发表日期由新到旧排列
审稿天数=录用日期-收稿日期;保留 PDF/DOI/网页源链接
98
天
Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk
作者
Olivier Quenez; Catherine Schramm; Kévin Cassinari; Aude Nicolas; Joan Groeneveld; Guillaume Huguet; Benjamin Grenier-Boley; Marc Hulsman; G. Bragi Walters; Itziar de Rojas; Anne Rovelet-Lecrux; Sébastien Feuillette; Laetitia Miguel; Anne-Claire Richard; Stéphane Rousseau; Shahzad Ahmad; Najaf Amin; Philippe Amouyel; Olivia Belbin; Céline Bellenguez; Claudine Berr; Paola Bossù; Femke Bouwman; Jose Bras; Jordi Clarimon; Antonio Daniele; Jean-François Dartigues; Stéphanie Debette; Jean-François Deleuze; Nicola Denning; Oriol Dols-Icardo; Cornelia M. van Duijn; Juan Fortea; Nick C. Fox; Ruth Frikke-Schmidt; Daniela Galimberti; Roberta Ghidoni; Vilmantas Giedraitis; Johan J.P. Gille; Detelina Grozeva; Rita Guerreiro; Edna Grünblatt; John Hardy; Steffi G. Riedel-Heller; Mikko Hiltunen; Clive Holmes; Jakub Hort; Holger Hummerich; M. Arfan Ikram; M. Kamran Ikram; Martin Ingelsson; Iris E. Jansen; Amit Kawalia; Robert Kraaij; Patrick G. Kehoe; Marc Lathrop; Morgane Lacour; Afina W. Lemstra; Alberto Lleó; Lauren Luckcuck; Marcel M.A.M. Mannens; Rachel Marshall; Carlo Masullo; Simon Mead; Patrizia Mecocci; Alexandre de Mendonça; Alun Meggy; Shima Mehrabian; Merel O. Mol; Kevin Morgan; Alexandre Morin; Benedetta Nacmias; Penny J. Norsworthy; Robert Olaso; Florence Pasquier; Pau Pastor; Fabrizio Piras; Julius Popp; Alfredo Ramirez; Rachel Raybould; Richard Redon; Marcel J.T. Reinders; Fernando Rivadeneira; Jeroen G.J. van Rooij; Natalie S. Ryan; Salha Saad; Pascual Sanchez-Juan; Nikolaos Scarmeas; Philip Scheltens; Jonathan M. Schott; Davide Seripa; Daoud Sie; Rebecca Sims; Erik A. Sistermans; Sandro Sorbi; Kristel Sleegers; Resie van Spaendonk; John C. van Swieten; Niccolo’ Tesi; Betty M. Tijms; Magda Tsolaki; André G. Uitterlinden; Jort Vijverberg; Pieter Jelle Visser; Michael Wagner; Julie Williams; Aline Zarea; Emmanuelle Génin; Henne Holstege; Daniel F. Gudbjartsson; David Wallon; Magalie Lecourtois; Maria Victoria Fernandez; Hreinn Stefansson; Sébastien Jacquemont; Jean-Charles Lambert; Sven J. van der Lee; Camille Charbonnier; Gaël Nicolas展开收起
作者单位
Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, 76000 Rouen, France; Univ Rouen Normandie, Normandie Univ, Inserm U1245, 76000 Rouen, France; Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement, Lille, France; Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands; Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands; Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC, Canada; Delft Bioinformatics Lab, Delft University of Technology, Delft, the Netherlands; Amgen-deCODE Genetics, Sturlugata 8, 102, Reykjavik, Iceland; Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, the Netherlands; Leiden Academic Centre for Drug Research, Leiden, the Netherlands; Nuffield Department of Population Health, Oxford University, Oxford, UK; Department of Neurology, II B Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Research Networking Center on Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain; Université Montpellier, INSERM, Institute for Neurosciences of Montpellier, Montpellier, France; Experimental Neuro-psychobiology Laboratory, Department of Clinical and Behavioral Neurology, Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation, Rome, Italy; Department of Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA; Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA; Department of Neuroscience, Catholic University of Sacred Heart, Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy; Université Bordeaux, INSERM, Bordeaux Population Health Research Center, Bordeaux, France; Department of Neurology, Bordeaux University Hospital, Bordeaux, France; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057 Evry, France; UKDRI Cardiff, School of Medicine, Cardiff University, Cardiff, UK; Dementia Research Centre, University College London Queen Square Institute of Neurology, London, UK; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark; Fondazione Istituto di Ricovero e Cura a Carattere Scientifico C' Granda, Ospedale Policlinico, Milan, Italy; University of Milan, Milan, Italy; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy; Department of Public Health and Carins Sciences/Geriatrics, Uppsala University, Uppsala, Sweden; Genome Diagnostics, Department of Human Genetics, VU University, AmsterdamUMC (locationVUmc), Amsterdam, the Netherlands; Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK; Department of Child and Adolescent Psychiatry and Psychotherapy, Psychiatric University Hospital Zurich, University of Zurich, Zurich, Switzerland; Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland; Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK; Institute of Social Medicine, Occupational Health and Public Health, University of Leipzig, Leipzig, Germany; Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland; Clinical and Experimental Science, Faculty of Medicine, University of Southampton, Southampton, UK; Memory Clinic, Department of Neurology, Second Faculty of Medicine, Charles University, Motol University Hospital, Prague, Czech Republic; Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases, London, UK; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije University, Amsterdam, the Netherlands; Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, the Netherlands; Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK; McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, 76000 Rouen, France; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands; Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy; Division of Gerontology and Geriatrics, Department of Medicine and Surgery, University of Perugia, Perugia, Italy; Division of Clinical Geriatrics, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden; Faculty of Medicine, University of Lisbon, Lisbon, Portugal; Department of Neurology, University Hospital “Alexandrovska,” 1431 Sofia, Bulgaria; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands; Human Genetics, School of Life Sciences, University of Nottingham, Nottingham, UK; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy; Université Lille, INSERM, Centre Hospitalier Universitaire Lille, UMR1172, Resources and Research Memory Center (MRRC) of Distalz, Licend, Lille, France; Fundació Docència i Recerca MútuaTerrassa and Movement Disorders Unit, Department of Neurology, University Hospital MútuaTerrassa, Barcelona, Spain; Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona, Spain; Laboratory of Neuropsychiatry, Department of Clinical and Behavioral Neurology, Istituto di Ricovero e Cura a Carattere Scientifico, Santa Lucia Foundation, Rome, Italy; University Hospital of Psychiatry Zürich, University of Zürich, Zürich, Switzerland; Department of Psychiatry and Glenn Biggs Institute for Alzheimer’s and Neurodegenerative Diseases, San Antonio, TX, USA; Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Hospital Bonn, Medical Faculty, Bonn, Germany; German Center for Neurodegenerative Diseases, Bonn, Germany; Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany; Université de Nantes, Centre Hospitalier Universitaire Nantes, Centre National de la Recherche Scientifique, INSERM, l’institut du Thorax, Nantes, France; Department of Neurology, Erasmus Medical Centre, Rotterdam, the Netherlands; Neurology Service, Marqués de Valdecilla University Hospital (University of Cantabria and IDIVAL), Santander, Spain; Department of Neurology, Aiginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece; Department of Neurology, Columbia University, New York, NY 10032, USA; Laboratory for Advanced Hematological Diagnostics, Department of Hematology and Stem Cell Transplant, Lecce, Italy; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK; Department of Human Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands; Complex Genetics of Alzheimer’s Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; First Department of Neurology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece; Alzheimer Hellas, Thessaloniki, Greece; UK Dementia Research Institute, Cardiff University, Cardiff, UK; Université Brest, INSERM, Etablissement Français du Sang, Centre Hospitalier Universitaire Brest, Unité Mixte de Recherche 1078, GGB, Brest, France; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland; Memory Clinic of Fundaciò ACE, Catalan Institute of Applied Neurosciences, 08028 Barcelona, Spain; Department of Pediatrics, Université de Montréal, Montreal, QC, Canada; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Biostatistics and CNRMAJ, 76000 Rouen, France展开收起
166
天
Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes
作者
Suhasini D. Lulla; Deborah I. Ritter; Chimene Kesserwan; Sharon E. Plon展开收起
作者单位
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children’s Cancer and Hematology Center, Houston, TX 77030, USA; Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA展开收起
166
天
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium
作者
Joanna Domènech-Vivó; Hélène Tubeuf; Romy L.S. Mesman; Aurelie Drouet; Mélanie Girardi; María Concepción Alonso-Cerezo; Diana Baralle; Nadia Boutry-Kryza; David J. Bunyan; Helen J. Byers; Sandrine M. Caputo; Kathleen B.M. Claes; Miguel De la Hoya; D. Gareth Evans; Laure Frésard; Sophie Krieger; Conxi Lázaro; Mélanie Leone; Eva Macháčková; Mireia Menéndez; Alejandro Moles-Fernández; Gemma Montalban; Erin Mundt; Marcy E. Richardson; Elke M. Van Veen; Jamie Weyandt; Judith Balmaña; Amanda B. Spurdle; Orland Diez; Maaike P.G. Vreeswijk; Alexandra Martins; Sara Gutiérrez-Enríquez展开收起
作者单位
Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain; Programa de Doctorat en Biomedicina, Universitat de Barcelona (UB), Barcelona, Spain; Area of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; University Rouen Normandie, Inserm U1245, 76000 Rouen, France; Interactive Biosoftware, Rouen, France; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands; Genética Clínica, Servicio de Oncología Médica, Hospital Universitario de la Princesa, Madrid, Spain; Faculty of Medicine, University of Southampton, Southampton, UK; University Hospital Southampton, Southampton, UK; Plateforme mixte de génétique moléculaire Hospices Civils de Lyon, Centre Léon Bérard, Lyon, France; Wessex Genomics Laboratory Service (Salisbury), Salisbury District Hospital, Salisbury, UK; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK; Service de Génétique, Institut Curie, 26 rue d'Ulm, Paris, France; Paris Sciences and Lettres (PSL) University, Paris, France; Center for Medical Genetics, Ghent University Hospital, Department of Biomolecular Medicine, Ghent University, CRIG (Cancer Research Institute Ghent), Ghent, Belgium; Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC, Madrid, Spain; Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Division of Evolution and Genomic Medicine, University of Manchester, St Mary’s Hospital, Manchester Universities NHS Foundation Trust, Manchester, UK; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, USA; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, Caen, France; UNICAEN, Normandie Université, Caen, France; Hereditary Cancer Program, Oncobell, IDIBELL, Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic; Myriad Genetics, Inc., Salt Lake City, UT, USA; Ambry Genetics, Aliso Viejo, CA, USA; Medical Oncology Department, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain; QIMR Berghofer, Brisbane, QLD, Australia展开收起
270
天
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
作者
Yong-Han Hank Cheng; Adriana E. Sedeño-Cortés; Jane E. Ranchalis; Katherine M. Munson; Mitchell R. Vollger; Elsa Balton; Casie A. Genetti; Jenny L. Wilson; Monica H. Wojcik; Alan H. Beggs; Michael J. Bamshad; Chia-Lin Wei; Katrina M. Dipple; Runjun D. Kumar; Mark D. Fleming; Ian A. Glass; Elizabeth E. Blue; Gail Jarvik; Jessica X. Chong; Daniela M. Witten; Anne O’Donnell-Luria; Andrew B. Stergachis展开收起
作者单位
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health & Science University, Portland, OR, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; The Northwest Genomics Center, University of Washington, Seattle, WA, USA; Seattle Children’s Research Institute, Center for Clinical and Translational Research, Seattle, WA, USA; Department of Laboratory Medicine & Pathology, University of Washington, Seattle, WA, USA; Department of Pathology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA; Departments of Statistics & Biostatistics, University of Washington, Seattle, WA, USA展开收起
107
天
Shared inheritance reveals landscape of somatic and germline cancer risk in TP53
作者
Hamish A.J. MacGregor; Jamie R. Blundell; Douglas F. Easton展开收起
作者单位
Early Cancer Institute, University of Cambridge, Cambridge, UK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK展开收起
140
天
Examining gaps in institutional policies for clinical genomic data sharing: A cross-jurisdictional study
作者
Zhaoping Ju; Yunhe Xue; Abby Rud; Juliann M. Savatt; Jordan Lerner-Ellis; Heidi L. Rehm; Yann Joly; Diya Uberoi展开收起
作者单位
Centre of Genomics and Policy, McGill University, Montreal, QC, Canada; Department of Pathology, McGill University, Montreal, QC, Canada; Department of Genomic Health, Geisinger, Danville, PA, USA; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, Mount Sinai Hospital, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, ON, Canada; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Independent Researcher, Montreal, QC, Canada展开收起
Expert Matching · Case Demo
把投稿要求,转成可验证的期刊方案
说清专业、时限和作者背景,CrushSCI 结合真实审稿样本,给出拟题方向、期刊初筛与周期判断。
