Paper Review Records
All Paper Review Records
12 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin‐1/ β ‐Spectrin Interaction in Hereditary Spherocytosis
AuthorsLinlong Xu; Gao Jingwen; Zhu Wenting; Lu Nina; Ding Xiaoxiao; Zhao Lei; Siyun Zhou; 蔡子豪 Cai Zihao; Zhong Zhengyang; Zhu Bo; Chen Sai; Yanrong Guo; Chen Jianlin; Jie Chen; Ding Xiaofei; Guang Chen
Affiliations1. Taizhou Central Hospital; 2. Taizhou University
Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCC
AuthorsKarina Bursch; Salomão Dória Jorge; Audrey Catlin; Raymundo Nuñez; Michael LeClaire; Jacob Licklider; Raúl Urrutia; Brian C. Smith
Affiliations1. Medical College of Wisconsin
Diagnostic Yield of Genome Sequencing in an Iranian Exome‐Negative Autosomal‐Recessive Intellectual Disability Cohort
AuthorsEbrahim Shokouhian; Masoumeh Moslemi; Masoumeh Goleyjani Moghadam; Negar Molaei; Parnian Alagha; Azadeh Reshadmanesh; Sanaz Arzhangi; Fatemeh Ghodratpour; Mert Celik; Ilayda Selcen Kadioglu; Masoud Edizadeh; Mohammad R. Akbari; Kimia Kahrizi; Hossein Najmabadi
Affiliations1. University of Social Welfare and Rehabilitation Sciences; 2. Intergen (Turkey); 3. Women's College Hospital
CDHR2 c.2233C > T Is Involved in Human Familial Ovarian Immature Teratoma With BMP15 c.262C > T
AuthorsYuntao Hao; Xi Kang; Liu Y; Hongwei Fan; Yan Li; Shan Kang
Affiliations1. Hebei Medical University; 2. Fourth Hospital of Hebei Medical University; 3. Aerospace Center Hospital
TRMT10A ‐Related Neurodevelopmental Disorder Without Metabolic Findings
AuthorsDöndü Ülker Üstebay; İrem Aksu Şahin; Sefer Üstebay; Gul Unsel Bolat; Hilmi Bolat
Affiliations1. Bandırma Onyedi Eylül University; 2. Balıkesir University
Decoding the Sphingolipid Landscape of Clear Cell Renal Cell Carcinoma: A Single‐Cell‐Guided Prognostic Model Built With 101 Machine Learning
AuthorsJinbang Huang; Shunsheng Wang; Yaojun Zhou; Hui Zhang; Yanyuan Zhang; Shi Huang; Haiwei Su; Hongling Zhu; Yuhan Lin; Gang Deng
Affiliations1. Sun Yat-sen University; 2. The Seventh Affiliated Hospital of Sun Yat-sen University; 3. Southwest Medical University
A Propionate Metabolism‐Based Gene Signature Reveals Immunogenomic and Transcriptomic Determinants of Prognosis in Glioblastoma Through Multiomics Integration
AuthorsMengtong Li; Jiayi Liu; Zichen Liu; Xia Liu; Peng Lun
Affiliations1. Qingdao University; 2. Affiliated Hospital of Qingdao University
Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population
AuthorsJennifer Ling; Mustansir Pindwarawala; Cheryl Y. Gregory-Evans; Mathew Kirby; Kevin Gregory-Evans
Affiliations1. University of British Columbia Hospital; 2. University of British Columbia; 3. BC Children's Hospital
A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights
AuthorsTing Zhu; Jiamin Shi; Jia Li; Tingmin Zhou; Xinru Fu; Fengzhen Xu; Chuangjie Gu; DanPing Wang; DanPing Wang; Ruiting Wu; Li Liu; Jingling Shen; Dan Wang; Dan Wang
Affiliations1. Wenzhou Medical University; 2. First Affiliated Hospital of Wenzhou Medical University; 3. Wenzhou Central Hospital; 4. Shaoxing People's Hospital; 5. Zhejiang Taizhou Hospital; 6. Taizhou University; 7. Wenzhou University
Panomics Integration via Machine Learning Prioritizes TAF1D as a Therapeutic Vulnerability in Lung Adenocarcinoma
AuthorsLan Ding; Qingmei Xu; Dongdong Liu; Jingyu Wu; Xufan Cai; Feiqi Xu; Shuhan Ma; Haitao Wang; Yanyan Shi
Affiliations1. Hangzhou Medical College; 2. 117th Hospital of People's Liberation Army; 3. Zhejiang Cancer Hospital; 4. Hangzhou Normal University
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