Paper Review Records
All Paper Review Records
15 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
543
days
MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-seq data
Authors
Joseph K. Aicher; Dina Issakova; Barry Slaff; San Jewell; Nicholas F. Lahens; Gregory R. Grant; Diana Baralle; Jill A. Rosenfeld; Daryl A. Scott; Elizabeth J. Bhoj; Yoseph BarashShow moreShow less
Affiliations
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; Department of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA; Department of Computer and Information Sciences, School of Engineering, University of Pennsylvania, Philadelphia, PA; Faculty of Medicine, University of Southampton, Southampton, United Kingdom; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Children’s Hospital of Philadelphia, Philadelphia, PAShow moreShow less
238
days
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Authors
Lacey Smith; Emily Bonkowski; Anna Prentice; Stacey Cohen; Laina Lusk; Shridhar Parthasarathy; Brendan Burns; Elizabeth Butler; Yanmin Chen; Kathleen Dady; Sarah Dugger; Alexander Ing; Rhonda Lassiter; David Lewis-Smith; Maureen Mulhern; Jimmy N.H. Nguyen; Jonathan Olival; Samin A. Sajan; Christopher H. Thompson; Alfred L. George; Jacy Wagnon; Katie Yergert; Jan H. Magielski; Jillian L. McKee; Erin Riggs; Kimberly Wiltrout; Annapurna Poduri; Ingo Helbig; Heather C. MeffordShow moreShow less
Affiliations
Department of Neurology, Boston Children’s Hospital, Boston, MA; Center for Pediatric Neurological Disease Research, Department of Cell & Molecular Biology, St Jude Children’s Research Hospital, Memphis, TN; Department of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA; Division of Translational Medicine and Human Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA; QIAGEN, Germantown, MD; GeneDx, Gaithersburg, MD; Labcorp, San Francisco, CA; Ambry Genetics, 1 Enterprise Aliso Viejo, CA; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL; Neurology Department, North Bristol Trust, Southmead Hospital Bristol, Bristol, United Kingdom; Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY; Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL; Department of Neuroscience, Ohio State University Wexner Medical Center, Columbus, OH; Autism & Developmental Medicine Institute, Geisinger, Danville, PAShow moreShow less
211
days
Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders
Authors
Ramy Saad; Clementina Cobolli Gigli; Pleuntje J. van der Sluijs; Jon R. Wilson; Tzung-Chien Hsieh; Vivienne P.M. McConnell; Carlos A. Bacino; Lynne M. Bird; Shelin Adam; Lorne Clarke; Jan M. Cobben; André M. Travessa; Laurence Faivre; Stense Farholt; Pernille A. Gregersen; Jos van Hasselt; Nayana Lahiri; Elizabeth E. Palmer; Ruth Sheffer; Jill Clayton-Smith; Yael Wilnai; Charu Deshpande; Jenny E.V. Morton; Emma Clement; Gijs W.E. Santen; Cristina DiasShow moreShow less
Affiliations
Department of Twin Research & Genetic Epidemiology, King’s College London, London, United Kingdom; Clinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Neural Stem Cell Biology Lab, The Francis Crick Institute, London, United Kingdom; Department of Medical and Molecular Genetics, School of Basic & Medical Biosciences, King’s College London, London, United Kingdom; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands; Structural Biology of Disease Processes Laboratory, The Francis Crick Institute, London, United Kingdom; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast, Northern Ireland, United Kingdom; Department of Molecular and Human Genetics, Baylor College of Medicine, Genetics Service, Texas Children’s Hospital, Houston, TX; Department of Pediatrics, University of California San Diego, Division of Dysmorphology and Genetics, Rady Children’s Hospital San Diego, San Diego, CA; Department of Medical Genetics and the British Columbia Children’s Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada; North West Thames Regional Genetics Service, NHS, Northwick Park & St Mark’s Hospitals, London, Harrow, United Kingdom; Serviço de Genética Médica, Centro Hospitalar Universitário Lisboa Norte, Hospital de Santa Maria, Lisbon, Portugal; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France; Department of Clinical Genetics, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark; ‘ s Heeren Loo Zorggroep, Advisium, Ermelo, The Netherlands; St George’s University Hospitals NHS Foundation Trust & St Georges, University of London, IMBE, London, United Kingdom; Department of Molecular and Biomedical Sciences, City St, University of London, London, United Kingdom; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children’s Hospitals Network, Randwick, NSW, Australia; Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Saint Mary’s Hospital, Oxford Road, Manchester, United Kingdom; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Clinical Genetics, Guy’s & St Thomas NHS Foundation Trust, London, United Kingdom; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Birmingham, United KingdomShow moreShow less
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