Paper Review Records
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20 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
Novel Clinical and Neurophysiological Insights in Neonatal‐Onset 3‐Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations
AuthorsBarbara Belmessieri; Sara Brunetti; Laura Malerba; Paola Martelli; Lucio Giordano; Massimo Plumari; Edoardo Errichiello; Patrizia Accorsi
Affiliations1. Department of Clinical and Experimental Sciences University of Brescia Brescia Italy; 2. Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia Brescia Italy; 3. Unit of Medical Genetics University of Pavia Pavia Italy; 4. Neurogenetics Research Center IRCCS Mondino Foundation Pavia Italy
Expanding the Genotypic Spectrum of POMGNT1‐Related Muscle‐Eye‐Brain Disease: A Case Report
AuthorsEvripidis Pityrigkas; Vasiliki Poulidou; Stefania Kalampokini; Eleni Liouta; Georgia Pepe; Martha Spilioti; Vasilios K. Kimiskidis
Affiliations1. First Department of Neurology, AHEPA University Hospital Aristotle University of Thessaloniki Thessaloniki Greece; 2. Genekor Medical S.A. Athens Greece
The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation
AuthorsXin Li; Xiaotian Wang; Xin Liu; Shuping Wang; Wentao Yang
Affiliations1. Department of Endocrinology The People's Hospital of Dongying Dongying Shandong China; 2. Department of Emergency The People's Hospital of Dongying Dongying Shandong China
Rare Biallelic CTU2 Variants in an Individual With CAKUT : Clinical Characterization and Minigene Splicing Analysis
AuthorsQian Liu; Xueqin Cheng; Bixia Zheng; Chunli Wang; Wei Zhou; Aihua Zhang
Affiliations1. Department of Nephrology Children's Hospital of Nanjing Medical University Nanjing Jiangsu China; 2. Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University Nanjing Jiangsu China
A Synonymous DLG4 Variant (c. 771G >A) Causes Exon 9 Skipping via Paternal Germline Mosaicism in DLG4 ‐Related Synaptopathy
AuthorsJing Chen; Qinfei Zhao; Xinyue Zhang; Nan Wu; Xuxiang Xi; Yin Zeng; Sa Wu; Kun Yuan; Zezhang Liu; Xiangsheng Wu; Shaoying Zeng
Affiliations1. Department of Laboratory Medicine First Affiliated Hospital of Gannan Medical University Ganzhou Jiangxi China; 2. Nanchang University Nanchang China; 3. The First School of Clinical Medicine Gannan Medical University Ganzhou Jiangxi China; 4. Department of Obstetrics and Gynecology First Affiliated Hospital of Gannan Medical University Ganzhou Jiangxi China; 5. BGI Genomics Shenzhen Guangdong China; 6. Clin Lab BGI Genomics Wuhan Hubei China
Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025
AuthorsXiujuan Cao; Wei Zhou; Yong Wang; Lvxian Wu; Jianhua Mao
Affiliations1. Department of Nephrology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center Hangzhou Zhejiang China; 2. Department of Pediatrics Jinhua Municipal Central Hospital Jinhua China; 3. The Key Laboratory for Screening and Diagnosis of Maternal and Child Genetic Disease of Health Commission of Jiangxi Province Jiujiang Jiangxi China; 4. Department of Internal Medicine Yanbian University Hospital Yanji Jilin China
Identification of the MYH6 c. 804G >C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family
AuthorsSonglin Zhang; Xiaohua Tang; Leixiang Yang; Yang Wang; Yong Cui; Xiaopan Chen
Affiliations1. Laboratory Medicine Center, Department of Genetic and Genomic Medicine Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College Hangzhou Zhejiang China; 2. Key Laboratory of Birth Defects Wenzhou Central Hospital Wenzhou Zhejiang China; 3. Heart Center, Department of Cardiovascular Surgery Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College Hangzhou Zhejiang China
COQ2‐Associated Primary Coenzyme Q10 Deficiency Presenting With Proteinuria: A Case Report and Literature Review
AuthorsYuqi Yue; Fei Zhao; Qiuxia Chen
Affiliations1. Department of Nephrology Children's Hospital of Nanjing Medical University Nanjing China
Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease
AuthorsBenjamin M. Helm; Leah Wetherill; Benjamin J. Landis; Stephanie M. Ware
Affiliations1. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA; 2. Department of Pediatrics Indiana University School of Medicine Indianapolis Indiana USA
Novel DMD Frameshift Variant (p.Leu2017Profs*5) in Spectrin‐Like Repeat 16 Expands the Mutational Spectrum of DMD
AuthorsYu‐Chin Lin; G. W. Gant Luxton; Hwei‐Jen Lee; Yu‐Yang Lu; Hung‐Chi Yang; Kuo‐Sheng Hung; Ming‐Tsong Lai; Chih‐Fen Hu
Affiliations1. Department of Pediatrics, Tri‐Service General Hospital National Defense Medical University Taipei Taiwan; 2. Department of Molecular and Cellular Biology University of California Davis California USA; 3. Department of Biochemistry National Defense Medical University Taipei Taiwan; 4. Department of Medical Laboratory Science and Biotechnology Yuanpei University of Medical Technology Hsinchu Taiwan; 5. Center for Precision Medicine and Genomics, Tri‐Service General Hospital National Defense Medical University Taipei Taiwan; 6. KimForest Enterprise Co., Ltd. New Taipei City Taiwan; 7. Department of Pediatrics, School of Medicine, College of Medicine National Defense Medical University Taipei Taiwan
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