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Human Mutation

IF3.7
Papers5137
Citations13030
Journal Papers 5429
Publication Date
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Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes
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IF3.7
delete2026-07-07
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deleteHeather Richbourg; Vanessa Rangel Miller; Omid Khazaie Japalaghi; Moeenaldeen AlSayed; Peter R. Baker; Sean Daugherty; Tali Ekstein; Sarah C. Grünert; Mark J. Kiel; Aneal Khan; Hironori Kobayashi; Lawrence Korngut; Stephanie A. Monteleone; Ida Vanessa D. Schwartz; Nicole Miller; Jerry Vockley
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Identifying Distinct Molecular Subtypes and Establishing a Prognostic Framework for DLBCL Patients via Multiomics Analysis and Machine Learning Approaches
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IF3.7
delete2026-07-06
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deleteHongyu Shen; Jinbo Lu; Qi Yan; Jinjiang Chou; Xiao Liang; Weifei Fan; Lei Fan
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Single-Cell and Multiomics Characterization of p21 in Cancer Progression and Therapeutic Sensitivity
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IF3.7
delete2026-07-06
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deleteWenyang Zhang; Qinglong Ma; Honghui Zhao; Wenrun Li; Zidong Feng; Linghui Zhong; Yaru Ren; Lin Chang; Yonghong Li; Lei Shi
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Autosomal Dominant Missense DAG1 Variant Linked to Mild–Moderate LGMD R16
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IF3.7
delete2026-07-04
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deleteEdoardo Malfatti; Alexandru Caramizaru; Federica Trentin; Andreea Dumitrescu; Luca Sali; Alexandra Bastian; Hane Lee; Homa Tajsharghi; Camille Verebi; Juliette Nectoux; France Leturcq; Rahul Phadke; Anna Sarkozy; Adnan Manzur; Redouane Fodil; Amelia Dobrescu
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COL1A1 and SERPINE1 as Potential Therapeutic Targets in Diabetic Retinopathy: A Study Incorporating RNA Transcriptomics, Single-Cell RNA Sequencing, and Proteomics
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IF3.7
delete2026-07-02
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deleteXiaomei Nie; Gang Su; Ran Zhang; Han Wang; Mingbo Li; Qian Liang
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TNFRSF18+ Regulatory T Cells as a Potential Biomarker of Immunotherapeutic Outcomes in Immunosuppressed Colon Cancer
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IF3.7
delete2026-07-01
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deleteKangfu Dai; Limmei Ye; Zhekang Jin; Jianping Wang; Lin Chen
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Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort
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IF3.7
delete2026-07-01
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deleteEbrahim Shokouhian; Masoumeh Moslemi; Masoumeh Goleyjani Moghadam; Negar Molaei; Parnian Alagha; Azadeh Reshadmanesh; Sanaz Arzhangi; Fatemeh Ghodratpour; Mert Celik; Ilayda Selcen Kadioglu; Masoud Edizadeh; Mohammad Reza Akbari; Kimia Kahrizi; Hossein Najmabadi
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Multiomics and Cohort Validation Identified the Metabolic Link Between Hashimoto′s Thyroiditis and Primary Biliary Cholangitis
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IF3.7
delete2026-06-30
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deleteYinan Hu; Haiyue Zhang; Han Zhao; Xinyi Men; Lina Cui; Changcun Guo; Jingbo Wang; Yansheng Liu; Yulong Shang; Ying Han
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Modeling the Effects of Single Nucleotide Polymorphisms (SNPs) on the Structure and Function of the Human RET Gene: An In Silico Study
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IF3.7
delete2026-06-27
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deleteNabilah Anzoom; Md. Arju Hossain; Md. Tanvir Hossain; Md. Moin Uddin; Mahfuj Khan; Md. Shofiqul Islam; Siddique Akber Ansari; Md. Habibur Rahman
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AI-Augmented Hematological Signatures for Equitable Detection of Hereditary Hemolytic Anemia Carriers: A Global Systematic Review and Meta-Analysis
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IF3.7
delete2026-06-27
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deleteNaif Taleb Ali; Radfan Saleh Abdullah; Mansour Abdulnabi H. Mehdi; Gamila Saleh Ali; Hana Mohsen Ali; Ali N. M. Gubran; Nazeh Mohammed Al-Abd
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Driver Mutation Subtypes Differentially Shape Immune Evasion Landscapes in Melanoma: An AI-Driven Inflammatory Pathway Model Implicating CCNE1
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IF3.7
delete2026-06-27
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deleteChong Mao; Guobin Chen; Jiayu Tang; Rao Leng; Xiyuan Zhou; Jianing Yang
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Lactylation-Related Genes in Ulcerative Colitis: A Multiomics Mendelian Randomization Study for Therapeutic Target Discovery
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IF3.7
delete2026-06-26
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deleteNa An; Ruiyun Wang; Huiping Jiao; Zhongwen Lu; Yafei Dou; Laikun Zheng; Zhaoliang Ding
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Hypoxia-Associated Molecular Subtypes Reveal Immune Checkpoint, Ferroptosis, and m6A Regulatory Heterogeneity in Pediatric Vasculitis
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IF3.7
delete2026-06-26
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deleteBin Liu
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Comment on “When the Outcome Contains the Exposure: Methodological Limits of a Genome-Wide Cross-Trait Analysis of Type 2 Diabetes and MASLD”
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IF3.7
delete2026-06-25
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deleteQingjie Wu; Cai Zhang
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Pharmacovigilance Signal Detection and Mutually Exclusive Driver Mutations of the PI3K/AKT Pathway in Breast Cancer Treated With Capivasertib
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IF3.7
delete2026-06-25
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deleteZhanyang Luo; Yi Shi; Bukun Zhu; Qionglian Huang; Wei Zhang; Youyang Shi; Xingchen Yang
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Exploring the Functional Impact of Individual DDX41 Variants With a Fast and Robust Cell-Based Method
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IF3.7
delete2026-06-25
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deleteNikolaj Juul Nitschke; Marwa Almosailleakh; Issa Ismail Issa; Clara Amanda Skov; Casper Carstens Lund; Jakob Werner Hansen; Jakob Schmidt Jespersen; Klas Raaschou-Jensen; Claudia Schöllkopf; Marianne Tang Severinsen; Bo Porse; Joachim Weischenfeld; Anne Stidsholt Roug; Mette Klarskov Andersen; Morten Frödin; Kirsten Grønbæk
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CDHR2 c.2233C > T Is Involved in Human Familial Ovarian Immature Teratoma With BMP15 c.262C > T
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IF3.7
delete2026-06-19
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deleteYuntao Hao; Xi Kang; Yakun Liu; Hongwei Fan; Yan Li; Shan Kang
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The Performance of In Silico Prediction Tools for Variant Curation in a Panel of Cancer Genes
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IF3.7
delete2026-06-19
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deleteNiles Nelson; Aram Niaz; Kirsten Fairfax; Tracy M. Bryan; Sionne Lucas; Joanne Dickinson
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Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss
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IF3.7
delete2026-06-19
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deleteSebastian Vishnopolska; James Liu; Maria Andrea Camilletti; Julian Martinez Mayer; Lucia Iglesias Garcia; Michelle Brinkmeier; Elisa Vaiani; Sofia Hebe Vidal; Marta Ciaccio; María Isabel Di Palma; Alicia Belgorosky; Marcelo Marti; Robert B. Hufnagel; Sally A. Camper; Maria Ines Perez-Millan
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Integrative Multiomics Analysis Identifies DKK3 as a Germline Susceptibility-Related Regulator of Risperidone Response and Metabolic Risk in Schizophrenia
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IF3.7
delete2026-06-17
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deleteXiaoyun Zhang; Jingjing Li; Yao Sun; Gangrui Hei; Xueqin Song
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