Paper Review Records
All Paper Review Records
19 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
100
days
Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G ( p.Asp1758Gly ), in CHARGE Syndrome
AuthorsTakashi Okuno; Tatsuto Shimizu; Aiko Igarashi; Kazumi Ikeda; Masamichi Ikawa; Sumihito Togi; Hiroki Ura; Yo Niida; Katsutsugu Umeda
Affiliations1. Department of Pediatrics Faculty of Medical Sciences, University of Fukui Fukui Japan; 2. Department of Medical Genetics University of Fukui Hospital Fukui Japan; 3. Center for Clinical Genomics Kanazawa Medical University Hospital Uchinada Ishikawa Japan; 4. Division of Genomic Medicine, Department of Advanced Medicine Medical Research Institute, Kanazawa Medical University Uchinada Ishikawa Japan
183
days
Expansion of the Clinical and Molecular Spectrum of LINS1 ‐Associated Disease
AuthorsAyman Y. Ibrahim; Erika Levine; Ayuko Iverson; Sangeeta Sharma; Lisa Forman; Christina Cuccia; Mafalda Barbosa
Affiliations1. Johns Hopkins University Baltimore Maryland USA; 2. Icahn School of Medicine at Mount Sinai New York New York USA
784
days
Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood
AuthorsNarinder Singh; Arpita Neogi; Liliane H. Gibbs; Jagdish Soni; Elizabeth Chao; Virginia Kimonis
Affiliations1. Division of Genetics and Genomic Medicine, Department of Pediatrics University of California Irvine California USA; 2. Chino Valley Medical Center California USA; 3. Cardiovascular Research Center, Division of Cardiology, Department of Internal Medicine Yale University New Haven Connecticut USA; 4. Pediatric Radiology, Department of Radiology University of California Irvine California USA; 5. Gandhi Lincoln Hospital Deesa Gujarat India; 6. Ambry Genetics Aliso Viejo California USA; 7. Department of Neurology University of California Irvine California USA; 8. Department of Pathology University of California Irvine California USA
144
days
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
AuthorsPamela Veale; Christopher Tiessen; Vithya Gnanakumar
Affiliations1. Department of Pediatrics, Cumming School of Medicine University of Calgary Calgary Alberta Canada; 2. Department of Biomedical Engineering, Schulich School of Engineering University of Calgary Calgary Alberta Canada; 3. Department of Clinical Neurosciences and Pediatrics, Cumming School of Medicine University of Calgary Calgary Alberta Canada
210
days
The Importance of Familial Co‐segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease
AuthorsAlice Porto Vasconcelos; Liliana Rocha; Susana Fernandes; João Paulo Oliveira
Affiliations1. Service of Human Genetics São João University Hospital Centre Porto Portugal; 2. i3S ‐ Institute for Research and Innovation in Health, University of Porto Porto Portugal; 3. Unit of Genetics, Department of Pathology, Faculty of Medicine University of Porto Porto Portugal
164
days
Atypical Biallelic Inheritance in “Dominant” Genes: Evidence From a Large‐Scale Consanguineus Exome Cohort
AuthorsElifcan Taşdelen; Umut Can Tekbaş; Abdulkerim Kolkıran; Semra Çetinkaya; Mustafa Kılıç; Abdullah Sezer
Affiliations1. Department of Medical Genetics Ankara Etlik City Hospital Ankara Turkiye; 2. Department of Pediatric Genetics Ankara Etlik City Hospital Ankara Turkiye; 3. Department of Pediatric Endocrinology Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Diseases Training and Research Hospital Ankara Turkiye; 4. Department of Pediatric Metabolism Ankara Etlik City Hospital, University of Health Sciences Ankara Turkiye
129
days
Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome
AuthorsAlbin Blanc; Christophe Nemos; Céline Bonnet; Mathilde Renaud; Sandra Chapuis; Pauline Boiroux; Marie‐Noëlle Babinet; Caroline Demily
Affiliations1. Service de génétique Clinique CHRU de Nancy Nancy France; 2. Université de Lorraine Nancy France; 3. Laboratoire de fœtopathologie et de Placentologie CHRU Nancy Nancy France; 4. Département D'histologie, Embryologie et cytogénétique, Faculté de médecine Université de Lorraine Nancy France; 5. Département de Génie Biologique Santé, IUT Nancy‐Brabois Université de Lorraine Nancy France; 6. Université de Lorraine INSERM UMR_S1256, NGERE Nancy France; 7. Laboratoire de génétique médicale CHRU Nancy Nancy France; 8. Service de Neurologie CHRU de Nancy Nancy France; 9. GénoPsy, Centre de Référence Maladies Rares—Troubles du Comportement D'origine Génétique (CRMR Coordonnateur), Le Vinatier Psychiatrie Universitaire Lyon Métropole Bron France; 10. UMR 5229, CNRS & Université Claude Bernard Lyon 1 Bron France
74
days
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
AuthorsJeremy J. Pomeroy; Jesse Richards; Brooke R. Sweeney; Seema Kumar; Katie E. Queen; Joshua Zaritsky; Carl H. Cramer; Elias I. Traboulsi; Brittni A. Scruggs; Erica E. Davis; Ekaterina Keifer; Emma McGibbon; Timothy Ogden; Bendert De Graaf; Tonia Hymers; Elizabeth Forsythe; Philip Beales
Affiliations1. Marshfield Clinic Research Institute Marshfield Wisconsin USA; 2. Department of Internal Medicine University of Oklahoma School of Community Medicine Tulsa Oklahoma USA; 3. Children's Mercy Kansas City, Center for Children's Healthy Lifestyles & Nutrition Kansas City Missouri USA; 4. Division of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota USA; 5. Our Lady of the Lake Children's Health Weight and Nutrition Center Baton Rouge Louisiana USA; 6. Department of Nephrology Phoenix Children's Hospital Phoenix Arizona USA; 7. Division of Pediatric Nephrology and Hypertension, Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota USA; 8. Cole Eye Institute, Cleveland Clinic Cleveland Ohio USA; 9. Department of Ophthalmology and Department of Pediatrics Mayo Clinic Rochester Minnesota USA; 10. Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA; 11. Department of Pediatrics, Cell and Developmental Biology Fienberg School of Medicine, Northwestern University Chicago Illinois USA; 12. Wolfson Neurodisability Service, Great Ormand Street Hospital NHS Foundation Trust London UK; 13. Bardet Biedl Syndrome Foundation Unionville Pennsylvania USA; 14. Bardet‐Biedl Stichting Kampen the Netherlands; 15. Bardet‐Biedl Syndrome UK Essex UK; 16. Clinical Genetics Department Guys and St. Thomas' Hospitals London UK; 17. National Bardet‐Biedl Syndrome Clinics, Great Ormond Street Hospital London UK; 18. Genetics and Genomic Medicine Programme, University College London Great Ormond Street Institute of Child Health London UK
34
days
Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia
AuthorsNicholas A. Borja; Mustafa Tekin
Affiliations1. John T. Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine Miami Florida USA; 2. John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA
272
days
Expanding the Genetic and Clinical Spectrum of GZF1 ‐Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome
AuthorsEmiy Yokoyama‐Rebollar; Camilo E. Villarroel; Tania Barragán‐Arévalo; Oscar Francisco Chacón‐Camacho; Diana Cristina Orozco‐Ávila; Paula Leal‐Anaya; Victoria del Castillo‐Ruiz; Juan Carlos Zenteno
Affiliations1. Human Genetics Department National Institute of Pediatrics Mexico City Mexico; 2. Genetics Department Hospital Infantil de México “Federico Gómez” Mexico City Mexico; 3. Department of Genetics Institute of Ophthalmology “Conde de Valenciana” Mexico City Mexico; 4. Laboratorio 5‐Genética, Edificio 4‐A, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala UNAM Mexico City Mexico; 5. Rare Diseases Diagnostic Unit and Department of Biochemistry, Faculty of Medicine UNAM Mexico City Mexico
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SampleLatest 5 valid paper samples from 2026
Average review96.4 days
Median77 days