Paper Review Records
All Paper Review Records
24 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
74
days
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
Authors
Jeremy 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 BealesShow moreShow less
Affiliations
1. 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 UKShow moreShow less
34
days
Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia
Authors
Nicholas A. Borja; Mustafa TekinShow moreShow less
Affiliations
1. 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 USAShow moreShow less
272
days
Expanding the Genetic and Clinical Spectrum of GZF1 ‐Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome
Authors
Emiy 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 ZentenoShow moreShow less
Affiliations
1. 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 MexicoShow moreShow less
3
days
Nuances of Genetic Diagnosis, Variant Interpretation, and Targeted Molecular Testing in Limited‐Resource Settings: Lessons From Inherited Glycerol‐3‐Phosphate Dehydrogenase 1 Deficiency
Authors
Ishaq Malik; Aaqib Zaffar BandayShow moreShow less
Affiliations
1. Department of Pediatrics, Government Medical College Srinagar Srinagar IndiaShow moreShow less
37
days
Glycerol‐3‐Phosphate Dehydrogenase 1 ( GPD1 ) Deficiency: A Transient Disease or a Great Masquerader?
Authors
Samannay Das; Tamoghna BiswasShow moreShow less
Affiliations
1. Department of Pediatric Gastroenterology Indian Institute of Liver and Digestive Sciences Sonarpur India; 2. Department of Hepatology AIG Hospitals Hyderabad IndiaShow moreShow less
249
days
Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review
Authors
Giulia Cinelli; Stefania Della Vecchia; Patrizia Bergonzini; Elisa Caramaschi; Elisabetta Spezia; Claudia Parenti; Simona Filomena Madeo; Laura Lucaccioni; Cavalleri Francesca; Marisa Pugliese; Federico Raviglione; Clara Colonna; Olga Calabrese; Ilaria Stanghellini; Maria Carmen Marongiu; Enrico Biagioni; Anna Rita Ferrari; Roberta Battini; Lorenzo IughettiShow moreShow less
Affiliations
1. Post Graduate School of Pediatrics, Department of Medical and Surgical Sciences of the Mothers, Children and Adults University of Modena and Reggio Emilia Modena Italy; 2. Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA) University of Florence Florence Italy; 3. Neuroscience Department IRCCS Stella Maris Foundation Pisa Italy; 4. Pediatric Unit, Department of Medical and Surgical Sciences of the Mothers, Children and Adults University of Modena and Reggio Emilia Modena Italy; 5. Neurology, Section of Neurophysiology, Department of Biomedical, Metabolic and Neuroscience University of Modena and Reggio Emilia Modena Italy; 6. Department of Neuroradiology University Hospital of Modena Modena Italy; 7. Psychology Unit, Women's and Children's Health Department University Hospital of Modena Modena Italy; 8. Child Neuropsychiatry Unit U.O.N.P.I.A ASST–Rhodense Milan Italy; 9. SSD Medical Genetics, Mother and Child Department University Hospital of Modena Modena Italy; 10. Orthopaedics and Traumatology Unit University Hospital of Modena Modena Italy; 11. Unit of Child Neurology and Psychiatry‐ASL Toscana Nord‐Ovest Pisa Italy; 12. Department of Clinical and Experimental Medicine University of Pisa Pisa ItalyShow moreShow less
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