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.
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
AuthorsIshaq Malik; Aaqib Zaffar Banday
Affiliations1. Department of Pediatrics, Government Medical College Srinagar Srinagar India
37
days
Glycerol‐3‐Phosphate Dehydrogenase 1 ( GPD1 ) Deficiency: A Transient Disease or a Great Masquerader?
AuthorsSamannay Das; Tamoghna Biswas
Affiliations1. Department of Pediatric Gastroenterology Indian Institute of Liver and Digestive Sciences Sonarpur India; 2. Department of Hepatology AIG Hospitals Hyderabad India
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
AuthorsGiulia 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 Iughetti
Affiliations1. 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 Italy
89
days
Associations Between Sensory Processing and Irritability in Prader–Willi Syndrome: Beyond Genetic Subtypes and Clinical Backgrounds
AuthorsErina Nakane; Hiroyuki Ogata; Sohei Saima; Chuichi Kondo; Masaki Seki; Yuji Oto; Hiroshi Ihara
Affiliations1. Department of Psychiatry Dokkyo Medical University Saitama Medical Center Koshigaya Saitama Japan; 2. Department of Psychiatry Ikezawa Shinkeika Hospital Hanyuu Saitama Japan; 3. Department of Psychiatry Okute Hospital Mizunami Gifu Japan; 4. Department of Pediatrics Dokkyo Medical University Saitama Medical Center Koshigaya Saitama Japan
168
days
Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study
AuthorsThomas Gehin; Malika Foy; Robert Carlier; Valentin Renault; Karelle Benistan
Affiliations1. AP‐HP, DMU Smart Imaging, Raymond Poincaré University Hospital Garches France; 2. AP‐HP, Ehlers‐Danlos Syndrome Referral Center, Raymond Poincaré University Hospital Garches France; 3. UR20261, PHARMAcoligo, Paris‐Saclay University, UVSQ Versailles France
51
days
Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐ CoA Dehydrogenase Deficiency ( LCHADD ) Explained by Three Allelic Products From Two Pathogenic Variants
AuthorsYutaka Furuta; Lynette C. Rives; T. Andrew Burrow; Thomas A. Cassini; Rory J. Tinker; Amy K. Robertson; Kimberly M. Ezell; Rizwan Hamid; Joy D. Cogan; John A. Phillips
Affiliations1. Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee USA; 2. Section of Genetics and Metabolism, Department of Pediatrics University of Arkansas for Medical Sciences, College of Medicine Little Rock Arkansas USA; 3. Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA
62
days
Early‐Onset Epileptic Encephalopathy and Neurodevelopmental Regression Associated With ST3GAL5 Deficiency
AuthorsSabire Gokalp; Elif Guler; Mustafa Kilic
Affiliations1. Department of Pediatric Metabolic Disorders Etlik City Hospital, University of Health Science Ankara Türkiye
67
days
Resolution of Refractory Multifocal Atrial Tachycardia in C ostello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic
AuthorsVanina Taliercio; Annabelle Wilcox; Stacey Cole; Josue Flores Daboub; José E. Morales Moreno; Kasey G. Andrews; S. Yukiko Asaki; Thomas A. Pilcher; Martin Tristani‐Firouzi; Mary C. Niu; David Viskochil; Benjamin Hammond
Affiliations1. Department of Pediatrics, Division of Medical Genetics University of Utah Salt Lake City Utah USA; 2. Department of Pediatrics, Division of General Pediatrics University of Utah Salt Lake City Utah USA; 3. Department of Pediatrics, Division of Cardiology University of Utah Salt Lake City Utah USA
88
days
Response of an Infant With Presumed Multiple Acyl‐ CoA Dehydrogenase Deficiency ( MADD ) to Ketone Supplementation
AuthorsYutaka Furuta; Kaitlyn N. Bloom; Jerry Vockley; Angela R. Grochowsky; Neena S. Agrawal; Ellen W. Strickler; Natalie N. Owen; Erica T. Gray; B. Lakshitha A. Perera; Eric R. Gamazon; Lynette C. Rives; Hua‐Chang Chen; Qi Liu; Rizwan Hamid; Joy D. Cogan; John A. Phillips; Thomas A. Cassini; Bryce A. Schuler
Affiliations1. Department of Pediatrics, Division of Medical Genetics and Genomic Medicine Vanderbilt University Medical Center Nashville Tennessee USA; 2. Department of Pediatrics, Division of Genetic and Genomic Medicine University of Pittsburgh School of Medicine Pittsburgh Pennsylvania USA; 3. Department of Medicine, Division of Genetic Medicine and Clinical Pharmacology Vanderbilt University Medical Center Nashville Tennessee USA; 4. Department of Biostatistics Vanderbilt University Medical Center Nashville Tennessee USA
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SampleLatest 5 valid paper samples from 2026
Average review96.4 days
Median77 days