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Human Mutation cover

Human Mutation

IF3.7
Papers5180
Citations13030
Journal Papers 5472
Publication Date
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Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing
deleteHuman Mutation
IF3.7
delete2026-10-01
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deleteShengfang Qin; Xueyan Wang; Jin Wang; Xiangyou Leng; Zhuo Zhang; Ximin Chen; Yan Yin
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Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways
deleteHuman Mutation
IF3.7
delete2026-09-29
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deleteBo Sun; Jing Ma; Xiaohong Bai; Shusong Wang
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Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric Analysis
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IF3.7
delete2026-09-29
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deleteBangshu Zhao; Wei Ran; Ning Liang
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Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study
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IF3.7
delete2026-09-29
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deleteJunpyo Lee; Hye Ran Lee; Jung Min Ko; Chang Ho Shin; Wonik Lee; Mi Hyun Song; Tae-Joon Cho
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Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype–Phenotype Correlations
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IF3.7
delete2026-09-25
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deleteVito Luigi Colona; Maria Gnazzo; Annalidia Donato; Lavinia Fioretti; Alessandra Terracciano; Delia Monopoli; Paola Sabrina Buonuomo; Michaela Veronika Gonfiantini; Donatella Lettori; Roberta Taurisano; Tommaso Mazza; Daniela Concolino; Mafalda Mucciolo; Marina Macchiaiolo; Antonio Novelli; Davide Vecchio
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Patient-Derived iPSC-Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N-Terminal Variant p.Ala46Thr
deleteHuman Mutation
IF3.7
delete2026-09-23
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deleteJunyi Wang; Xintong Zhu; Yaqiong Li; Limeng Dai; Xiaoyin Tan; Jia Li; Hong Guo
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Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype–Phenotype Correlations Across 48 Kindreds
deleteHuman Mutation
IF3.7
delete2026-09-18
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deleteSajjad Biglari; Halimeh Rezaei; Elnaz Asadollahzadeh; Mohammad Salimi Asl; Hamid Galehdari; Masoud Garshasbi; Emran Esmaeilzadeh; Raziyeh Khalesi; Payman Jamali; Farshid Parvini; Gholamreza Shariati; Niloofar Chamanrou; Reza Saligheh; Atefeh Sohanforooshan Moghaddam; Hamid Reza Khorram Khorshid; Sepideh Shohani; Samira Nafar; Atieh Eslahi; Mojtaba Lotfi; Behnoosh Bakhshoodeh; Fatemeh Hajizadeh; Saeed Abtahi; Reza Gharaei Jomehei; Hassan Vahidnezhad; Mehran Beiraghi Toosi; Morteza Heidari; Hanieh Mirzadeh; Majid Mojarrad; Mina Mohammadi Sarband; Ehsan Ghayoor Karimiani
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Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families
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IF3.7
delete2026-09-18
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deleteHamza Khan; Sadia Bukhari; Nauman Ahmad; Israr Ahmed Bhutto; Yousaf Jamal Mahsood; Mohsin Iqbal Haroon; Muhammad Moeez Uddin; Amal Shabir Memon; Atta Ur Rehman; Shah Zainab; Asad Munir; Syeda Hafiza Benish Ali; Muhammad Ajmal; Raheel Qamar; Jibril Hirbo; Maleeha Azam; Humaira Ayub
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Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development
deleteHuman Mutation
IF3.7
delete2026-09-17
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deleteHui Xiao; Changning Xie; Pan Peng; Xiaoyuan Ni; Leilei Mao; Jing Peng
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CBX3 as a Prognostic Biomarker and Therapeutic Target in Colorectal Carcinoma
deleteHuman Mutation
IF3.7
delete2026-09-16
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deleteTao Hu; Wenbin Song; Zhaoyi Liu; Cangchang Shi; Xiaoyan Hu; Shengxuan Wang; Zhikai Cao; Keyun Zhu; Yao Tian; Yingxi Li
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Clinical and Genetic Spectrum of Large AIP Deletions
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IF3.7
delete2026-09-13
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deleteTea Shehu Kolnikaj; Maren Ruka; Artur Xhumari; Anila Babameto-Laku; Athanasios Siolos; Panagiotis Alexandros Drakos; Kesson Magid; Thomas O. Millner; Robert D. Murray; Marinella Tzanela; Dragana Miljić; Arlinda Ramaj; Paul Benjamin Loughrey; Stelios Tigas; Márta Korbonits
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A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative Vitreoretinopathy
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IF3.7
delete2026-09-13
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deleteLi-li Zhang; Zi-jia Zhao; Kai-xin Chen; Yu-qiao Ju; Feng-juan Gao; Yuan Zong; Qing Chang; Xin Huang; Ting Zhang; Ge-zhi Xu
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Identification of COPZ1 as a Shared Candidate Ferroptosis-Related Hub Gene in Periodontitis and Inflammatory Bowel Disease
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IF3.7
delete2026-09-13
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deleteXin Yu; Yun Ruan; Zongying Zhang; Jiyuan Shi; Xinyu Gu; Yuyi Chen; Mengmeng Sang; Xiaorong Zhou; Yan Zhou; Liming Mao
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The Charcot–Marie–Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression
deleteHuman Mutation
IF3.7
delete2026-09-12
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deleteAlexandra Boyling; Anthony N. Cutrupi; Desmond Li; Ben Crossett; Jonathan J. Danon; Edward D. Harvey-Latham; Garth A. Nicholson; Steve Vucic; Marina L. Kennerson
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Comment on “Obituary: Professor Andreas Gal”
deleteHuman Mutation
IF3.7
delete2026-09-11
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deleteChristian Kubisch; Kerstin Kutsche
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Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants
deleteHuman Mutation
IF3.7
delete2026-09-10
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deleteYonatan Amzaleg; Kevin J. McDonnell; Gregory E. Idos; Christina Mathai; Stacy W. Gray; Heather Hampel; David W. Craig
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First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion
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IF3.7
delete2026-09-10
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deleteYanchuan Xie; Dongyan Li; Wensheng Li; Yingjie Tao; Li Tang; Liping Li; Guangda Li; Hongwei Jiang
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Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework
deleteHuman Mutation
IF3.7
delete2026-09-07
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deleteChongwen Fang; Min Wu; Jing Lv; Yanping Zhang; Qinyun Zheng; Xiang Shen; Shangke Huang
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TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation
deleteHuman Mutation
IF3.7
delete2026-09-07
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deleteHimanshu Goel
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MYC-Driven LDHA/PABPC1/PLK1 Model Predicts Prognosis, Immune Landscape, and Therapeutic Response in Lung Adenocarcinoma
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IF3.7
delete2026-09-07
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deleteTianwei Xu; Lihua Jiang; Shuai Yan; Jing Zhang; Ligong Chang; Yingying Qian; Jiankang Xu
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