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.
99
days
Re: Clinical implementation of polygenic risk scores — equity metrics are needed before clinical translation
Authors
Laura Piñero-RoigShow moreShow less
Affiliations
1. MD Student, Faculty of Medicine, Universitat de Barcelona, Barcelona, SpainShow moreShow less
257
days
Bridging the gap: integrating hereditary cancer into precision oncology
Authors
Alejandra Rezqallah; Mara Cruellas; Judith BalmañaShow moreShow less
Affiliations
1. Hereditary Cancer Genetics Group, Medical Oncology Department, University Hospital Vall d’Hebron and Vall d’Hebron Institute of Oncology, Barcelona, Spain; 2. Hereditary Cancer Unit, Medical Oncology Department, University Hospital Lozano Blesa / Instituto de Investigación Sanitaria de Aragón, Zaragoza, SpainShow moreShow less
189
days
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
Authors
Matthias De Wachter; Mathijs B. van der Lei; Amber Decleve; Kevin De Man; Ellen Elinck; An-Sofie Schoonjans; Evan Gouy; Louis Januel; Pauline Monin; Audrey Labalme; Amelle Shillington; Himanshu Goel; Juliet P. Taylor; Katherine Neas; David A. Koolen; Francois Lecoquierre; Alice Goldenberg; Theresa Brunet; Melanie Brugger; Minjie Luo; Magdalena Krygier; Maria Mazurkiewicz-Bełdzińska; Manon Degoutin; Claire Beneteau; Cyril Goizet; David D. Weaver; Emily G. Farrow; Angela Lee; Randi N. Gadea; Berten Ceulemans; Peter A. M. de Witte; Daniëlle Copmans; Anna C. Jansen; R. Frank KooyShow moreShow less
Affiliations
1. Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium; 2. Department of Medical Genetics, University of Antwerp, Antwerp, Belgium; 3. Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium; 4. Leuven Childhood Epilepsy Center, Leuven Brain Institute, KU Leuven, UZ Leuven, Leuven, Belgium; 5. Research on Healthcare Performance Reshape, INSERM U1290, Université Claude Bernard Lyon 1, Lyon, France; 6. Hospices Civils de Lyon, Service de Génétique, Lyon, France; 7. Cincinnati Children’s Medical Center, Cincinnati, USA; 8. School of Medicine and Public Health, University of Newcastle, Callaghan, Australia; 9. Genetic Health Service NZ (North), Auckland, New Zealand; 10. Genetic Health Service NZ, Wellington South, New Zealand; 11. Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 12. Hospitalo-Universitaire, CHU de Rouen, Rouen, France; 13. Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany; 14. Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, USA; 15. Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA; 16. Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland; 17. CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; 18. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA; 19. Clinical Genetics and Genomics Laboratory, Pathology and Laboratory Medicine, Children’s Mercy Kansas City, Kansas City, USA; 20. Department of Translational Neurosciences, University of Antwerp, Antwerp, BelgiumShow moreShow less
118
days
Parent and professional experiences of a clinical trial of prenatal and postnatal stem cell therapy for severe osteogenesis imperfecta
Authors
Bikiran Behera; Charlotta Ingvoldstad Malmgren; Eva Åström; Lyn S. Chitty; Belinda Crowe; Anna L. David; Catherine DeVile; Oliver Semler; Magnus Westgren; Cecilia Götherström; Melissa HillShow moreShow less
Affiliations
1. BSc Paediatrics and Child Health, UCL Great Ormond Street Institute of Child Health, London, UK; 2. Center for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden; 3. Center for Fetal Medicine, Karolinska University Hospital, Stockholm, Sweden; 4. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; 5. Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; 6. Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden; 7. North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 8. Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK; 9. Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 10. Elizabeth Garrett Anderson Institute for Women’s Health, University College London, London, UK; 11. NIHR University College London Hospitals Biomedical Research Centre, London, UK; 12. Department of Pediatrics, University Hospital Cologne, Koln, Germany; 13. Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden; 14. Department of Gynecology and Reproductive Medicine, Karolinska University Hospital, Stockholm, SwedenShow moreShow less
127
days
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders
Authors
Ankur Chaurasia; Anju Shukla; Shruti Pande; Greeshma Purushothama; Akhil Kanathay Ashokan; Purvi Majethia; Namanpreet Kaur; Priyanka Upadhyai; Neha Quadri; Gandham SriLakshmi Bhavani; Dhanya Lakshmi Narayanan; Shalini S. Nayak; Sheela Nampoothiri; Ataf H. Sabir; Alaa A. Mohammed; Sophie Shaw; Verity L. Hartill; Christopher M. Watson; Colin A. Johnson; Afrah Alshammari; Andrew E. Fry; James A. Poulter; William G. Newman; Paul R. Kasher; Siddharth Banka; Katta M. GirishaShow moreShow less
Affiliations
1. Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India; 2. Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK; 3. Department of Paediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India; 4. West Midlands Clinical Genetics Unit, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK; 5. Department of Cancer and Genomic Sciences, College of Medicine and Health, University of Birmingham, Birmingham, UK; 6. West Midlands Genomics Laboratory, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK; 7. All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff, UK; 8. Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK; 9. Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds, UK; 10. Yorkshire and North East Genomic Laboratory Hub, Central Lab, St. James’s University Hospital, Leeds, UK; 11. Department of Biology, College of Science, University of Hafr Al-Batin, Hafr Al-Batin, Saudi Arabia; 12. Division of Cancer and Genetics, Cardiff University, Cardiff, UK; 13. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, UK; 14. Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK; 15. Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance NHS Foundation Trust and University of Manchester, Manchester, UK; 16. Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, OmanShow moreShow less
128
days
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools
Authors
Clément Hersent; Lise Larrieu; Patricia Fergelot; Julie Miro; Mehdi Benkirane; Chloé Angelini; Francis Ramond; Cecilia Marelli; Isabelle Sabatier; Gaëtan Lesca; Christel Vaché; Mireille Cossée; Anne Bergougnoux; Klaus Dieterich; Christine Tranchant; Isabelle Marey; Anna Castrioto; Christel Thauvin-Robinet; Lydia Abou Haidar; François Rivier; Sylvie Tuffery-Giraud; Michel KoenigShow moreShow less
Affiliations
1. Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France; 2. PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, France; 3. Neurogenetics Reference Centre, Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France; 4. Department of Medical Genetics, Laboratory of Genomics Medicine, Sorbonne University, Hôpital de la Pitié-Salpêtrière, Assistance Publique- Hôpitaux de Paris (AP-HP), Paris, France; 5. Department of Medical Genetics, CHU of Saint-Etienne, Saint-Etienne, France; 6. MMDN, Université de Montpellier, EPHE, INSERM, Montpellier, France; 7. Expert Center for Neurogenetic Diseases, CHU de Montpellier, Montpellier, France; 8. Department of Pediatric Neurology, University Hospitals of Lyon, Lyon, France; 9. Department of Medical Genetics, University Hospitals of Lyon and Université Claude Bernard Lyon1, Lyon, France; 10. Department of Medical Genetics, CHU de Grenoble, Grenoble, Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France; 11. Department of Neurology, Hôpitaux Universitaires de Strasbourg, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; 12. Grenoble Institute of Neurosciences, Grenoble Alpes University Hospital Center, Inserm, U1216, Grenoble Alpes University, Grenoble, France; 13. Université de Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares Neurogène, INSERM, CTM UMR 1231, GAD, Dijon, France; 14. Department of Pediatric Neurology and Reference Center for Neuromuscular Diseases AOC, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, FranceShow moreShow less
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