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.
136
days
Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder
AuthorsOlivier Hakizimana; Janvier Hitayezu; Jeanne P. Uyisenga; Norbert Dukuze; Marie Viviane Akimana; Laurence Mizero; Claudine Bampire; Charles Mudenge; Xavier Kanyambari Butoto; Laura Helou; Benoit Charloteaux; Jean‐Hubert Caberg; Vinciane Dideberg; Leonor Palmeira; Abdullateef Isiaka Alagbonsi; Vincent Bours; Annette Uwineza
Affiliations1. Postgraduate Studies, School of Health Sciences, College of Medicine and Health Sciences University of Rwanda Kigali Rwanda; 2. Department of Biochemistry, Molecular Biology and Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences University of Rwanda Kigali Rwanda; 3. Center for Human Genetics, Centre Hospitalier Universitaire Sart‐Tilman University of Liege Liege Belgium; 4. Department of Pediatrics University Teaching Hospital of Kigali (CHUK) Kigali Rwanda; 5. Department of Biology, College of Science and Technology University of Rwanda Kigali Rwanda; 6. Department of Psychiatry Ndera Neuropsychiatric Teaching Hospital Kigali Rwanda; 7. Department of Psychiatry and Behavioral Sciences, School of Medicine and Pharmacy, College of Medicine and Health Sciences University of Rwanda Kigali Rwanda; 8. Department of Physiology, School of Medicine and Pharmacy, College of Medicine and Health Sciences University of Rwanda Kigali Rwanda
128
days
Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome
AuthorsFeiyang Fan; Ying Chen; Tianyu Zhang; Jing Ma
Affiliations1. Department of Facial Plastic and Reconstructive Surgery, Eye & ENT Hospital, ENT Institute Fudan University Shanghai China; 2. NHC Key Laboratory of Hearing Medicine Fudan University Shanghai China; 3. Institute of Medical Genetics & Genomics Fudan University Shanghai China; 4. Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases Fudan University Shanghai China; 5. Surgery Laboratory, Institute of Medical Sciences General Hospital of Ningxia Medical University Yinchuan Ningxia China
264
days
Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis
AuthorsDan Ding; Hongmei Wu; Fei Zhao; Bixia Zheng; Qiuxia Chen
Affiliations1. Department of Nephrology Children's Hospital of Nanjing Medical University Nanjing China; 2. Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University Nanjing China
238
days
Compound Heterozygous PCDH15 Variants Associated With Cone‐Rod Dystrophy in a Chinese Pedigree
AuthorsLei Zhang; Qianfeng Wang; Haiyan Wang; Wei Jia; Bowen Zhang; Ru Wang; Wei Qiang; Shuwei Bai
Affiliations1. Shaanxi Eye Hospital Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital of Northwest University Xi'an China; 2. Xi'an Key Laboratory of Digital Medical Technology of Ophthalmologic Imaging Xi'an China; 3. Medical College of Optometry and Ophthalmology Shandong University of Traditional Chinese Medicine Jinan Shandong China
188
days
Costello Syndrome Associated With Somatic Mosaicism of Rare p.Gly13Asp HRAS Variant: Expanding the Phenotypic Spectrum
AuthorsJovan Lalosevic; Katarina Djordjevic; Mirjana Gajic‐Veljic; Sonja Pavlovic; Vladimir Gasic; Marina Andjelkovic; Milos Nikolic
Affiliations1. Clinic of Dermatology and Venereology University Clinical Center of Serbia Belgrade Serbia; 2. University of Belgrade, Faculty of Medicine Belgrade Serbia; 3. Institute of Molecular Genetics and Genetic Engineering (IMGGE) University of Belgrade Belgrade Serbia
188
days
Bioinformatics Analysis and Experimental Validation of Key Genes Associated With Hypoxia and Ischemia in Myocardial Infarction
AuthorsLongsheng Zhang; Ning Liang
Affiliations1. Ward 1, Department of Tuberculosis HIV/AIDS Clinical Treatment Center of Guangxi (Nanning) and The Fourth People's Hospital of Nanning Nanning Guangxi China; 2. The First Affiliated Hospital of Guangxi Medical University Nanning Guangxi China; 3. Ward 1, Department of Cardiovascular Medicine The Third People's Hospital of Nanning Nanning Guangxi China
212
days
Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1D
AuthorsPatracia Nevondwe; Maria Mudau; Heather Seymour; Robyn Kerr; Zané Lombard; Amanda Krause; Nadia Carstens
Affiliations1. Division of Human Genetics National Health Laboratory Service and School of Pathology, The University of the Witwatersrand Johannesburg South Africa; 2. Genomics Platform South African Medical Research Council Cape Town South Africa
164
days
Clinical Application of Long‐Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China
AuthorsYan Li; Fei Hou; Shan Shan; Yingying Peng; Hua Jin
Affiliations1. Department of Prenatal Diagnosis Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Care Hospital) Jinan China; 2. Medical Research Center Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Care Hospital) Jinan China
607
days
Analysis of Genetic Factors in a Family With Short Stature
AuthorsSiqing Zhang; Tian Zuo; Youping Deng; Dongchi Zhao; Lihong Liao
Affiliations1. Department of Pediatrics Zhongnan Hospital of Wuhan University Wuhan Hubei China; 2. Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases Wuhan China
133
days
Genomic Profiling of Anophthalmia/Microphthalmia‐Associated CNVs Reveals Complex Genotype–Phenotype Correlations and Incomplete Penetrance
AuthorsDong Wu; Mengting Zhang; Qian Zhang; Fengyang Wang; Qiaofang Hou; Hongyan Liu; Shixiu Liao; Hai Xiao
Affiliations1. Medical Genetics Institute of Henan Provincial People's Hospital Zhengzhou China; 2. NHC Key Laboratory of Birth Defects Prevention, Institute of Reproductive Health, Henan Academy of Innovations in Medical Science Zhengzhou China; 3. Department of Medical Genetics The Affiliated People's Hospital, Zhengzhou University Zhengzhou China
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SampleLatest 5 valid paper samples from 2026
Average review96.4 days
Median77 days