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.
265
days
Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome
AuthorsKarolina Skrzyńska; Barbara Kalina‐Faska; Ewa Błaszczyk; Aneta Gawlik‐Starzyk
Affiliations1. Department of Pediatrics and Pediatric Endocrinology School of Medicine in Katowice, Medical University of Silesia Katowice Poland
69
days
Chorea‐Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant
AuthorsLeila Tamaoui; Ahmed Bouhouche; Nazha Birouk
Affiliations1. Clinical Neurophysiology Department, Hopital des Specialites Ibn Sina University Hospital Rabat Morocco; 2. Research Team in Neurology and Neurogenetics, Center of Genomics of Human Pathologies, Medical School and Pharmacy University Mohammed V in Rabat Rabat Morocco
42
days
Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly
AuthorsNathalie Vanden Eynde; Lucas Hérissant; Emilie Landais; Matthieu Egloff; Marlène Rio; Geneviève Baujat; Fabienne Giuliano; Houda Karmous‐Benailly; Charles Coutton; Véronique Satre; Gaëlle Vieville; Paul Kuentz; Mathilde Nizon; Claire Beneteau; Bertrand Isidor; Patrick Callier; Valentine Marquet; Eric Bieth; Jonathan Lévy; Anne‐Claude Tabet; François Cartault; Sophie Scheidecker; Aurélie Gouronc; Audrey Schalk; Chloé Angélini; Perrine Pennamen; Caroline Rooryck; Slavica Trajkova; Biljana Gagachovska; Brynn Shrom‐Model; Stephen R. Braddock; Paul Hillman; Lingying Liu; Christina Dühring Fenger; Trine Bjørg Hammer; Ina Schanze; Martin Zenker; Martine Doco‐Fenzy; Céline Poirsier; Guillaume Jouret
Affiliations1. Laboratoire National de Santé (LNS) National Center of Genetics (NCG) Dudelange Luxembourg; 2. Department of Genetics Reims Univeristy Hospital Reims France; 3. CHU de Poitiers Service de Génétique Poitiers France; 4. Department of Genetics, Necker‐Enfants Malades AP‐HP, Institut Imagine Paris France; 5. Department of Genetics Nice University Hospital Nice France; 6. Service de Génétique et Procréation, Hôpital Couple‐Enfant, CHU Grenoble Alpes Université Grenoble‐Alpes La Tronche France; 7. Université Marie et Louis Pasteur, CHU Besançon Franche‐Comté Oncobiologie Génétique Bioinformatique, FHU TRANSLAD Besançon France; 8. Department of Genetics Nantes University Hospital Nantes France; 9. Department of Genetics Dijon University Hospital Dijon France; 10. Service de Génétique Médicale, Cytogénétique et Biologie de la Reproduction CHU de Limoges Limoges France; 11. Department of Genetics Toulouse University Hospital Toulouse France; 12. Department of Genetics Robert‐Debré University Hospital Paris France; 13. Department of Genetics La Réunion University Hospital Saint Denis France; 14. Strasbourg University Hospital Strasbourg France; 15. CHU Bordeaux, Service de Génétique Médicale Bordeaux France; 16. Department of Neurosciences Rita Levi‐Montalcini University of Torino Turin Italy; 17. University Clinic of Psychiatry, Faculty of Medicine Ss. Cyril and Methodius University Skopje North Macedonia; 18. Saint Louis University School of Medicine, Division of Medical Genetics SSM Health Cardinal Glennon Children's Hospital St Louis Missouri USA; 19. Department of Pediatrics, Division of Medical Genetics McGovern Medical School at UTHealth Houston Houston Texas USA; 20. Department of Epilepsy Genetics and Personalized Medicine The Danish Epilepsy Centre Dianalund Denmark; 21. Amplexa Genetics Odense Denmark; 22. Department of Clinical Genetics Rigshospitalet Copenhagen Denmark; 23. Institut Fur Humangenetik Universitatsklinikum Magdeburg Magdeburg Germany; 24. Department of Genetics Hotel Dieu University Hospital Nantes France
47
days
Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation
AuthorsYuanyuan Sun; Leyi Wang; Liwei Zhang; Chunyu Gu; Chaojun Zhai; Hong Wang; Jing Chen; Xiaoyu Liu; Ximeng Ma; Shuyue Zhang; Dong Li; Jianbo Shu; Chunquan Cai
Affiliations1. Clinical School of Pediatrics Tianjin Medical University Tianjin China; 2. Children's Hospital, Tianjin University Tianjin China; 3. Tianjin Pediatric Research Institute Tianjin China; 4. Tianjin Key Laboratory of Birth Defects for Prevention and Treatment Tianjin China; 5. National Children's Regional Medical Center Tianjin China; 6. Department of Neurology Tianjin Children's Hospital Tianjin China; 7. Department of Imaging Medical Children's Hospital, Tianjin University Tianjin China; 8. Institute of Medical Engineering and Translational Medicine Children's Hospital, Tianjin University Tianjin China
38
days
Novel Germline ELP1 Splice‐Acceptor Variant in NF1 ‐Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With ELP1 Variation
AuthorsAtbin Latifi; Sina Yousefian; Mohammad Ali Daneshmand; Mohamad R. Akbari
Affiliations1. School of Medicine Arak University of Medical Sciences Arak Iran; 2. Student Research Committee Arak University of Medical Sciences Arak Iran; 3. Independent Pathologist, Formerly Affiliated With Arak University of Medical Sciences Arak Iran; 4. Women’s College Hospital, University of Toronto Toronto Ontario Canada
85
days
Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1 ‐Related Noonan Syndrome‐Mimicking Phenotype
AuthorsEsma Nur Konur Akbaş; Güven Toksoy; Şahin Avcı; Umut Altunoğlu; Tuğba Kalaycı; Gözde Yeşil Sayın; Hülya Kayserili; Zehra Oya Uyguner; Ayça Dilruba Aslanger
Affiliations1. Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University Istanbul Turkey; 2. Department of Medical Genetics Basaksehir Cam and Sakura City Hospital Istanbul Turkey; 3. Department of Medical Genetics, School of Medicine Koc University, KUSOM Istanbul Turkey; 4. Department of Medical Genetics, Faculty of Medicine Istanbul Atlas University Istanbul Turkey
63
days
Claudin‐11–Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms
AuthorsFabio Acquaviva; Serena Troisi; Gabriella Errichiello; Carmela Russo; Eugenio Maria Covelli; Maria Anna Siano; Maria Rosaria Manna; Alfonsina Tirozzi; Daniele De Brasi; Antonio Varone
Affiliations1. Medical Genetics Unit, Department of General and Emergency Pediatrics AORN Santobono‐Pausilipon Naples Italy; 2. Pediatric Neurology Unit, Department of Neurosciences Santobono‐Pausilipon Children's Hospital Naples Italy; 3. Child Neuropsychiatry Unit, Department of Neurosciences Santobono‐Pausilipon Children's Hospital Naples Italy; 4. Pediatric Neuroradiology Unit, Department of Neurosciences Santobono‐Pausilipon Children's Hospital Naples Italy; 5. Rehabilitation Unit, Department of Neurosciences Santobono‐Pausilipon Children's Hospital Naples Italy
138
days
Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights
AuthorsR. Sahithi Rathod; Geeta Kolar; Suseela Vavilala; Saritha Redishetty; Smita Pawar; Prathibha Reddy; Aditi Shah; Gayatri Nerakh
Affiliations1. Department of Genetics Fernandez Hospital Hyderabad Telangana India; 2. Department of Fetal Medicine Fernandez Hospital Hyderabad Telangana India
36
days
Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval
AuthorsAngelo 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 Kaur
Affiliations1. 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 Australia
255
days
Non‐Coding c.* 6C >T Variant in RBM8A Associated With Thrombocytopenia‐Absent Radius ( TAR ) Syndrome in Three Indian Patients
AuthorsNitika Langeh; Reddipalli Sharath; Mohammed Tahir Ansari; Jayanth Kumar Palanichamy; Neerja Gupta
Affiliations1. 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 India
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SampleLatest 5 valid paper samples from 2026
Average review96.4 days
Median77 days