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258.7平均天数
238中位天数
139最短天数
543最长天数
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Paper Review Records

全部论文审稿周期

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

140 天

Genotype-phenotype relationships in phenylalanine hydroxylase deficiency: Functional annotation-enhanced analysis of 23,427 individuals

作者
Nenad Blau; Nastassja Himmelreich展开收起
作者单位
Division of Metabolism, University Children’s Hospital Zürich, Zürich, Switzerland; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, Department I, University Children’s Hospital, Heidelberg, BW, Germany; Zentrum für Humangenetik Tübingen, Tübingen, BW, Germany展开收起
PDF源文件 DOI 网页
336 天

Extended newborn screening using DNA methylation testing for fragile X syndrome in 17,107 infants

作者
David E. Godler; Ling Ling; Dinusha Gamage; Minh Bui; Michael J. Field; David J. Amor展开收起
作者单位
Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia; Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, VIC, Australia; Department of Pediatrics, Monash University, Clayton, VIC, Australia; E.D.G. Innovations and Consulting, St Kilda, VIC, Australia; Centre for Epidemiology & Biostatistics, Melbourne School of Population & Global Health, University of Melbourne, Carlton, VIC, Australia; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia展开收起
PDF源文件 DOI 网页
324 天

Evaluation of electrical impedance myography as a noninvasive musculoskeletal biomarker in infantile- and late-onset Pompe disease

作者
Raquel van Gool; Nehal Shah; Amanda Cao; Lise Vrolix; Buket Sonbas Cobb; Benjamin Goodlett; Georgina Johnson; Hanne van der Heijden; Merve Koç Yekedüz; Carlos Camelo; Julie Shulman; Adam P. Vogel; M. Valerie Stein; Hawa Sakho; David Kronn; Nick Todd; Olaf Bodamer; Seward Rutkove; Walla Al-Hertani; Jaymin Upadhyay展开收起
作者单位
Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA; Department of Neurology, Mental Health and Neuroscience Research Institute, Maastricht University, Maastricht, Limburg, The Netherlands; Department of Radiology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA; Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA; Department of Electrical and Electronic Engineering, Harran University, Şanlıurfa, Turkey; Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA; Department of Audiology and Speech Pathology, The University of Melbourne, Parkville, Victoria, Australia; Department of Pediatric Metabolism, Ankara University, Faculty of Medicine, Ankara, Turkey; Department of Physical and Occupational Therapy, Boston Children’s Hospital, Boston, MA; Redenlab Pty Ltd, Melbourne, Victoria, Australia; Department of Pathology and Pediatrics, New York Medical College, Valhalla, NY; Division of Metabolic Disorders, Children's Hospital of Orange County, Rady Children's Health, Orange, CA展开收起
PDF源文件 DOI 网页
181 天

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET

作者
Yuwei Shi; Ananilia Silva; Christophe Debuy; Sourav Ghosh; Haley McConkey; Rachel Schot; Ruizhi Deng; Anita Nikoncuk; Marjon van Slegtenhorst; Lies H. Hoefsloot; Tjakko J. van Ham; Brittany N. Simpson; Dana Miller; Nishitha R. Pillai; Muriel Holder-Espinasse; Berta Almoguera; Fiona Blanco-Kelly; Virginia Clowes; Grace Yoon; Berrin Monteleone; Jaime Vasquez; Rubén Pérez de la Fuente; Sara Bellido-Cuéllar; Ursino Barrios-Machain; Yolanda Moreno-Sáez; Katharina Steindl; Anais Begemann; Anita Rauch; Tiffany Busa; Svetlana Gorokhova; Shenela Lakhani; Zachary Grinspan; Aurore Garde; Frederic Tran Mau Them; Ange-Line Bruel; Julian Delanne; Hana Safraou; Estelle Colin; Aditi Shah Parikh; Anne Slavotinek; Patrick Devine; Amelle Shillington; Arthur Sorlin; Didier Menzies; Lakshmi Mehta; Charlotte Close; Caleb Heid; Syed Ajaz Ahmed; Adriana Gomes; Lynne M. Bird; Erfan Aref-Eshghi; Kelly J. Cardona-Londoño; Stefan T. Arold; Jing-Mei Li; Tzung-Chien Hsieh; Tjitske Kleefstra; Kristina Lanko; Bekim Sadikovic; Tahsin Stefan Barakat展开收起
作者单位
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Center for Experimental Neurotherapeutics, St. Jude Children’s Research Hospital, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children’s Hospital, Memphis, TN; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN; Department of Clinical Genetics, Guy's Hospital London, London, United Kingdom; Department of Genetics and Genomics. Fundación Jiménez Díaz University Hospital & Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Center for Rare Diseases), Carlos III Health Institute (ISCIII), Madrid, Spain; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, United Kingdom; Section of Genetics and Genomics, Department of Metabolism Digestion and Reproduction, Faculty of Medicine, Imperial College, London, United Kingdom; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; Division of Clinical Genetics, NYU Grossman Long Island School of Medicine, Garden City, New York, NY; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain; Group of Rare, Mitochondrial and Neuromuscular Diseases (RMND), 12 de Octubre University Hospital Research Institute (i+12), Madrid, Spain; UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre University Hospital, Madrid, Spain; Epilepsy-vEEG Unit, Neurology Department, 12 Octubre University Hospital, Madrid, Spain; Department of Pediatric Endocrinology, 12 Octubre University Hospital, Madrid, Spain; University of Zurich, Institute of Medical Genetics, Wagistrasse 12, Schlieren, Switzerland; University Children’s Hospital Zurich, Zurich, Switzerland; Medical Genetics Department, Timone Children’s Hospital, APHM, Marseille, France; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France; Center for Neurogenetics, Weill Cornell Medicine, New York, NY; Department of Pediatrics, Weill Cornell Medicine, New York, NY; Centre de Génétique, CRMRs "Anomalies du Développement et syndromes malformatifs" et "Déficiences Intellectuelles de causes rares", "GenoPsy" et "Neurogène", FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France; Center for Human Genetics, University Hospitals Cleveland Medical Center and Case Western Reserve University School of Medicine, Cleveland, OH; Department of Pediatrics, University of California San Francisco, San Francisco, CA; Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio; Clinical Genetics unit, National Center of Genetics, Laboratoire national de santé, Dudelange, Luxembourg; Foetopathologie, National Center of Pathologie, Laboratoire national de santé, Dudelange, Luxembourg; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY; Department of Pathology, University of Missouri, Columbia, MO; Department of Clinical Genetics, Southern California Kaiser Permanente, Los Angeles, CA; Department of Pediatrics, University of California San Diego, San Diego, CA; Division of Genetics/Dysmorphology, Rady Children’s Hospital San Diego, San Diego, CA; GeneDx, LLC, Gaithersburg, MD; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany展开收起
PDF源文件 DOI 网页
252 天

Decision-making criteria in polygenic embryo screening: A survey of reproductive medicine physicians

作者
Rémy A. Furrer; Aayushi Gandhi; Dorit Barlevy; Shai Carmi; Todd Lencz; Stacey Pereira; Gabriel Lázaro-Muñoz展开收起
作者单位
Department of Neurosurgery, Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA; Stanford University, Stanford, CA; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX; Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel; Institute of Behavioral Science, The Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY; Departments of Psychiatry and Molecular Medicine, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY; Division of Research, Department of Psychiatry, The Zucker Hillside Hospital Division of Northwell Health, Glen Oaks, NY; Department of Psychiatry, Massachusetts General Hospital, Boston, MA展开收起
PDF源文件 DOI 网页
211 天

Clinical utility of exome sequencing: Post-exome testing decision changes in the management of children with suspected rare genetic disease

作者
Toni Tagimacruz; Trevor Adam Seeger; Koen Degeling; Katharine Fooks; Viji Venkataramanan; Francois P. Bernier; Kym M. Boycott; Roberto Mendoza-Londono; Taila Hartley; Robin Z. Hayeems; Deborah A. Marshall展开收起
作者单位
Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Cancer Health Services Research, Centre for Health Policy & Centre for Cancer Research, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Australia; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada; Department of Medical Genetics, University of Calgary, AB, Canada; One Child Every Child, University of Calgary, Calgary, AB, Canada; Alberta Children’s Hospital Research Institute, University of Calgary, Calgary, AB, Canada; Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa Ottawa, ON, Canada; Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Institute of Health Policy, Management and Evaluation, The University of Toronto, Toronto, ON, Canada展开收起
PDF源文件 DOI 网页

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平均审稿62 天

中位数65 天

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