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
228
天
Systematic and proactive evaluation of AIRE missense variant effects
作者
Anna Axakova; Amund H. Berger; Warren van Loggerenberg; Nishka Kishore; Marinella Gebbia; Megan X. Ding; Samuel V. Douville; Daniel R. Tabet; Atina G. Cote; Jochen Weile; Stefan Johansson; Eirik Bratland; Frederick P. Roth展开收起
作者单位
Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada; Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Faculty of Health Science, McMaster University, Hamilton, ON, Canada; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway展开收起
126
天
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features
作者
Marina Boon; Meghan R. Mulligan; Jolijn J.A. Verseput; Barbara Šakić; Pleuni Schreurs; Mireia Coll-Tané; Andrea Accogli; Emily Alderman; Taryn Athey; Cornelius Boerkoel; Antonella Boni; Roseline Caumes; Erica Gerkes; Sabine Haase; Sylvie Jaillard; Lauren Jeffries; Peter Kannu; Monica Konstantino; Jonathan Lévy; Anna Lokchine; Maarten Massink; Nadra Nasser Samra; Renske Oegema; Marcello Scala; Jolanda Schieving; Sarina Schwartzmann; Henrike Lisa Sczakiel; Thomas Smol; Pasquale Striano; Alain Verloes; Amber Begtrup; Rolph Pfundt; Barbara Franke; Marieke Klein; Annette Schenck; Louise S. Bicknell; Bert B.A. de Vries展开收起
作者单位
Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, the Netherlands; Department of Biochemistry, University of Otago, Dunedin, New Zealand; Department Medical Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre (MUHC), Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Provincial Medical Genetics Program, Women’s Hospital of British Columbia, Vancouver, BC, Canada; University of Alberta, Edmonton, AB, Canada; Alberta Health Services, Edmonton, AB, Canada; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria Dell'Età Pediatrica, Bologna, Italy; CHU Lille, ULR 7364 – RADEME – Maladies RAresdu DÉveloppementembryonnaire et Du Métabolisme, University Lille, 59000 Lille, France; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands; Zentrum für Humangenetik Tübingen, Tübingen, Germany; CHU Rennes, Inserm, Irset (Institut de Recherche en Santé, Environnement et Travail) – UMR_S 1085 (service de Cytogénétique et Biologie Cellulaire), University Rennes, 35000 Rennes, France; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France; Laboratoire de Biologie Médicale Multisites Seqoia – FMG2025, 75014 Paris, France; Department of Genetics. University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Genetic Unit, Ziv Medical Center, Tsfat, Israel; Faculty of Medicine, Bar-Ilan University, Tzfat, Israel; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Pediatric Neurology Department, Radboud University Medical Center, Nijmegen, the Netherlands; Institute of Medical Genetics and Human Genetics, Charité – Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité – Universitätsmedizin Berlin, 10117 Berlin, Germany; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Full Member of ERN-Epicare, Genoa, Italy; GeneDx, LLC, Gaithersburg, MD, USA展开收起
220
天
Cell villages and Dirichlet modeling map human cell fitness genetics
作者
Chloe Hanson; Timothy Derebenskiy; Ana Rodriguez Vega; Yashika S. Kamte; Rachel G. Fox; Laila Sathe; Hannah Lambing; Tyler E. Dietterich; Derek Hawes; Ralda Nehme; Olli Pietiläinen; Aarno Palotie; Patrick Allard; Harold Pimentel; Michael F. Wells展开收起
作者单位
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Interdepartmental PhD Program for Neuroscience, University of California, Los Angeles, Los Angeles, CA, USA; The UCLA-CDU Dana Center for Neuroscience & Society, Los Angeles, CA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Helsinki Institute of Life Science Neuroscience Center, University of Helsinki, Helsinki, Finland; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology, and Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Institute for Society and Genetics, University of California, Los Angeles, Los Angeles, CA, USA; Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA, USA; Department of Computer Science, University of California, Los Angeles, Los Angeles, CA, USA; Department of Computational Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA展开收起
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