Paper Review Records
All Paper Review Records
20 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
80
days
Phenotypic Characterization of Five Children With PACS1 ‐ NDD : Longitudinal Insights Into Development, Behavior, and Brain
AuthorsFiona Journal; Nada Kojovic; Kenza Latrèche; Stefania Solazzo; Marie Schaer
Affiliations1. Department of Psychiatry, Faculty of Medicine University of Geneva Geneva Switzerland; 2. Faculty of Psychology and Science of Education (FAPSE) University of Geneva Geneva Switzerland; 3. Fondation Pôle Autisme Geneva Switzerland
38
days
Diagnostic Yield and Clinical Impact of Comprehensive WES / WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy
AuthorsKatrine M. Johannesen; Karen Grønskov; Line Kessel; Sarah Linea von Holstein; Lisbeth Birk Møller; Mette Kjøbæk Gundestrup Andersen; Marianne Søndergaard Khinchi; Steffen Hamann; Marianne Wegener; Mette Bertelsen
Affiliations1. Department of Genetics Copenhagen University Hospital ‐ Rigshospitalet Copenhagen Denmark; 2. Department of Ophthalmology Copenhagen University Hospital ‐ Rigshospitalet Glostrup Denmark; 3. Department of Clinical Medicine University of Copenhagen Copenhagen Denmark; 4. Department of Child Neurology Danish Epilepsy Centre Dianalund Denmark; 5. Neuro‐Ophthalmology Department Rothschild Foundation Hospital Paris France
32
days
Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure—Implications for Mitochondrial Genetic Testing in Nephrology: A Response Letter
AuthorsSarah Hammond; Dervla M. Connaughton
Affiliations1. Division of Nephrology, Department of Medicine London Health Sciences Centre London Ontario Canada; 2. Department of Biochemistry, Schulich School of Medicine and Dentistry University of Western Ontario London Ontario Canada
93
days
Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172
AuthorsDandan Chen; Yuhan Wang; Pengyao Ren; Yangyang Zhou; Chun Zhang; Waner Wang; Jiayi Geng; Yitong Chai; Jiajia Xie; Shuangjie Li; Zhongyi Yan; Xiaoqing Wang; Lei Zhang
Affiliations1. Department of Pathogen Biology, School of Basic Medical Sciences Henan University Kaifeng China; 2. Henan Provincial Engineering Center for Tumor Molecular Medicine, Kaifeng Key Laboratory of Cell Signal Transduction Henan University Kaifeng China; 3. Kaifeng155 Hospital, China RongTong Medical Healthcare Group Co. Ltd. Kaifeng China; 4. Shanghai Yangzhi Rehabilitation Hospital (Shanghai Sunshine Rehabilitation Center) Tongji University School of Medicine Shanghai China; 5. Clinical Center for Brain and Spinal Cord Research Tongji University Shanghai China; 6. Affiliated Shanghai Blue Cross Brain Hospital, School of Medicine Tongji University Shanghai China
30
days
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants
AuthorsEvan Burchfiel; Xiaonan Zhao; Nichole M. Owen; Tia Gordon; Mahshid S. Azamian; Eric C. Kao; Fan Xia; Xi Luo; Jill A. Rosenfeld; Seema R. Lalani; Allison P. Ortega; Steven B. Bleyl; Florence Petit; Sulekha Rajagopolan; Bénédicte Demeer; Meredith K. Gillespie; Lijia Huang; Matthew Osmond; Kym M. Boycott; Kyra E. Stuurman; Marjon A. van Slegtenhorst; Haley Soller; Céline Jost; Aurore Garde; Hana Safraou; Laurence Faivre; Victor Faundes; Daryl A. Scott
Affiliations1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA; 2. Baylor Genetics Houston Texas USA; 3. Department of Cell and Gene Therapy Baylor College of Medicine Houston Texas USA; 4. Department of Pediatrics, Division of Medical Genetics University of Utah Salt Lake City Utah USA; 5. Clinical Genetics Department Univ. Lille, CHU Lille Lille France; 6. Department of Clinical Genetics Liverpool Hospital Liverpool New South Wales Australia; 7. Centre Hospitalier Universitaire de Amiens‐Picardie Amiens France; 8. Chimere INSERM UA21 University of Picardie‐Jules Verne Amiens France; 9. Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada; 10. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada; 11. Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam the Netherlands; 12. Division of Genetics and Genomic Medicine UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania USA; 13. Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231 Dijon France; 14. Laboratoire de Génomique Médicale, Inserm, UMR1231, équipe GAD Université Bourgogne Europe, CHU Dijon Bourgogne Dijon France; 15. Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos Universidad de Chile Santiago Chile
28
days
USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes
AuthorsHelena Wigoda; Amjad Khan; Bryce A. Mendelsohn; Noriko Miyake; Nobuhiko Okamoto; Naomichi Matsumoto; Patricia J. C. Knijnenburg; Johanna M. van Hagen; Jiddeke van de Kamp; Quinten Waisfisz; Bryn D. Webb
Affiliations1. Department of Pediatrics Center for Precision Medicine University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA; 2. Department of Zoology Institute of Biological Sciences, University of Lakki Marwat Lakki Marwat Khyber Pakhtunkhwa Pakistan; 3. Department of Medical Genetics Kaiser Permanente Oakland Medical Center Oakland California USA; 4. Department of Pediatrics Nagasaki University Institute of Biomedical Sciences Nagasaki Japan; 5. Department of Medical Genetics Osaka Women's and Children's Hospital Izumi Osaka Japan; 6. Department of Human Genetics Graduate School of Medicine, Yokohama City University Yokohama Japan; 7. Department of Human Genetics Amsterdam UMC Amsterdam the Netherlands
88
days
An Ancient Founder GDF2 Variant Potentially Causes Semi‐Dominant Non‐Syndromic Pulmonary Arterial Hypertension
AuthorsAbdullah Aldalaan; Seba Nadeef; Ebtissal Khouj; Fayez Alahmadi; Bayan Aljamal; Noura Alturaif; Nadeen Alharbi; Firdous Abdulwahab; Mashael Alqahtani; Fatima Alzubi; Omar Abuyousef; Mais O. Hashem; Hamdiah Zaytoun; Hanadi Alhamoud; Tarfa Alshidi; Amal Jaafar; Lama Alabdi; Fowzan S. Alkuraya
Affiliations1. Pulmonary Hypertension Program, Lung Health Center, King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia; 2. Department of Translational Genomics Center for Genomic Medicine, King Faisal Specialist Hospital, and Research Center Riyadh Saudi Arabia; 3. Innovation and Research, King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia; 4. Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia; 5. Lifera Omics Riyadh Kingdom of Saudi Arabia
167
days
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
AuthorsIan A. Cree; Mark J. Arends; Joseph D. Khoury; Erika R. E. Denton; Anthony J. Gill; Alexander J. Lazar; Ian M. Frayling; Stefan M. Pfister; Mark A. Rubin; Katia R. M. Leite; Raymond Dalgleish; Elspeth A. Bruford; Sharon E. Plon; Ada Hamosh; Michael Francis Walsh; Gabrielle Goldman‐Lévy; Harshima Wijesinghe; William D. Foulkes; Dilani Lokuhetty
Affiliations1. International Agency for Research on Cancer Lyon France; 2. Cancer Research UK Scotland Centre, Institute of Genetics and Cancer University of Edinburgh Edinburgh UK; 3. Department of Pathology, Microbiology, and Immunology University of Nebraska Medical Center Omaha Nebraska USA; 4. Norfolk and Norwich University Hospitals NHS Foundation Trust Norwich UK; 5. NSW Health Pathology, Department of Anatomical Pathology Royal North Shore Hospital St Leonards New South Wales Australia; 6. Departments of Pathology and Genomic Medicine The University of Texas MD Anderson Cancer Center Houston Texas USA; 7. Inherited Tumour Syndromes Research Group, School of Medicine Cardiff University Cardiff UK; 8. Hopp Children's Cancer Center Heidelberg (KiTZ) Heidelberg Germany; 9. Universität Bern Bern Switzerland; 10. University of São Paulo Medical School São Paulo São Paulo Brazil; 11. Division of Genetics and Genome Biology University of Leicester Leicester UK; 12. School of Clinical Medicine University of Cambridge Cambridge UK; 13. Baylor College of Medicine Houston Texas USA; 14. Department of Genetic Medicine (DGM), McKusick‐Nathans Institute Johns Hopkins University Baltimore Maryland USA; 15. Memorial Sloan Kettering Cancer Center New York New York USA; 16. Department of Human Genetics McGill University Montreal Quebec Canada
54
days
Clinical Variability Including Non‐Dilated Left Ventricular and Dilated Cardiomyopathy in a Pedigree With an Intragenic CTNNA3 Copy Number Variation
AuthorsCarmela Fusco; Sandra Mastroianno; Silvia Morlino; Riccardo Pracella; Federica Russo; Ester Maria Lucia Bevere; Orazio Palumbo; Giuseppe Di Stolfo; Marco Castori
Affiliations1. Inborn Errors of Morphogenesis Research Unit and Division of Medical Genetics Fondazione IRCCS‐Casa Sollievo Della Sofferenza San Giovanni Rotondo Italy; 2. Division of Electrophysiology Fondazione IRCCS‐Casa Sollievo Della Sofferenza San Giovanni Rotondo Italy
156
days
Clinical and Molecular Portraits of Pediatric RASopathies : A Study of 118 Genotype‐Confirmed Cases
AuthorsAslı Genç; Elif Sarıkaya; Ahmet Cevdet Ceylan; Büşranur Çavdarlı; İbrahim İlker Çetin; İlkay Erdoğan; Esra Kılıç
Affiliations1. Department of Pediatric Genetics University of Health Sciences, Ankara Bilkent City Hospital Ankara Turkey; 2. Department of Pediatrics University of Health Sciences, Ankara Bilkent City Hospital Ankara Turkey; 3. Faculty of Medicine, Department of Medical Genetics Ankara Yıldırım Beyazit University Ankara Turkey; 4. Department of Medical Genetics Ankara Bilkent City Hospital Ankara Turkey; 5. Department of Pediatric Cardiology University of Health Sciences, Ankara Bilkent City Hospital Ankara Turkey; 6. Department of Pediatric Cardiology Başkent University Ankara Hospital Ankara Turkey
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SampleLatest 5 valid paper samples from 2026
Average review96.4 days
Median77 days