Paper Review Records
All Paper Review Records
25 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
138
days
Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights
Authors
R. Sahithi Rathod; Geeta Kolar; Suseela Vavilala; Saritha Redishetty; Smita Pawar; Prathibha Reddy; Aditi Shah; Gayatri NerakhShow moreShow less
Affiliations
1. Department of Genetics Fernandez Hospital Hyderabad Telangana India; 2. Department of Fetal Medicine Fernandez Hospital Hyderabad Telangana IndiaShow moreShow less
36
days
Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval
Authors
Angelo Condell; Elaine Zhang; Tim Sikora; Sean Massey; Nicole J. Van Bergen; Min Wang; Cas Simons; Katrina M. Bell; Daniella H. Hock; David A. Stroud; David Francis; Wendy A. Gold; Martin B. Delatycki; John Christodoulou; Simranpreet KaurShow moreShow less
Affiliations
1. Brain and Mitochondrial Research Group Murdoch Children's Research Institute Melbourne Victoria Australia; 2. Canberra Clinical Genomics The Australian National University, Canberra Health Services Canberra Australian Capital Territory Australia; 3. Murdoch Children's Research Institute, Royal Children's Hospital Melbourne Victoria Australia; 4. Department of Paediatrics University of Melbourne Melbourne Victoria Australia; 5. Centre for Population Genomics Garvan Institute of Medical Research and UNSW Sydney Sydney New South Wales Australia; 6. Bio21 Molecular Science and Biotechnology Institute University of Melbourne Melbourne Victoria Australia; 7. Victorian Clinical Genetics Service Royal Children's Hospital Melbourne Victoria Australia; 8. School of Medical Sciences and Discipline of Child and Adolescent Health, Faculty of Medicine and Health The University of Sydney New South Wales Australia; 9. Molecular Neurobiology Research Laboratory, Kids Research The Children's Hospital at Westmead, and The Children's Medical Research Institute New South Wales Australia; 10. Kids Neuroscience Centre, Kids Research The Children's Hospital at Westmead New South Wales AustraliaShow moreShow less
255
days
Non‐Coding c.* 6C >T Variant in RBM8A Associated With Thrombocytopenia‐Absent Radius ( TAR ) Syndrome in Three Indian Patients
Authors
Nitika Langeh; Reddipalli Sharath; Mohammed Tahir Ansari; Jayanth Kumar Palanichamy; Neerja GuptaShow moreShow less
Affiliations
1. Department of Pediatrics, Division of Genetics All India Institute of Medical Sciences (AIIMS) New Delhi India; 2. Department of Biochemistry AIIMS New Delhi India; 3. Department of Orthopedics AIIMS New Delhi IndiaShow moreShow less
80
days
Phenotypic Characterization of Five Children With PACS1 ‐ NDD : Longitudinal Insights Into Development, Behavior, and Brain
Authors
Fiona Journal; Nada Kojovic; Kenza Latrèche; Stefania Solazzo; Marie SchaerShow moreShow less
Affiliations
1. 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 SwitzerlandShow moreShow less
38
days
Diagnostic Yield and Clinical Impact of Comprehensive WES / WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy
Authors
Katrine 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 BertelsenShow moreShow less
Affiliations
1. 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 FranceShow moreShow less
32
days
Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure—Implications for Mitochondrial Genetic Testing in Nephrology: A Response Letter
Authors
Sarah Hammond; Dervla M. ConnaughtonShow moreShow less
Affiliations
1. 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 CanadaShow moreShow less
Expert Matching · Case Demo
Turn Your Submission Goalsinto a Verifiable Journal Plan
Share your field, deadline, and author profile. CrushSCI uses real review records to suggest a title direction, shortlist journals, and estimate timelines.
