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Human Mutation
Published by Hindawi Limited.
ISSN 1059-7794 / 1098-1004
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Aims & scope
Human Mutation publishes peer-reviewed research. Manuscripts pass a technical check and a scope check by the handling editor before going to independent reviewers.
02
Recently published
Panomics Integration via Machine Learning Prioritizes TAF1D as a Therapeutic Vulnerability in Lung Adenocarcinoma
DOI 10.1155/humu/1816649 Lan Ding, Qingmei Xu, Dongdong Liu, Jingyu Wu, Xufan Cai, Feiqi Xu, Shuhan Ma, Haitao Wang, Yanyan Shi · 2026
Decoding the Sphingolipid Landscape of Clear Cell Renal Cell Carcinoma: A Single‐Cell‐Guided Prognostic Model Built With 101 Machine Learning
DOI 10.1155/humu/3249360 Jinbang Huang, Shunsheng Wang, Yaojun Zhou, Hui Zhang, Yanyuan Zhang, Shi Huang, Haiwei Su, Hongling Zhu, Yuhan Lin, Gang Deng · 2026
Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population
DOI 10.1155/humu/6564149 Jennifer Ling, Mustansir Pindwarawala, Cheryl Y. Gregory-Evans, Mathew Kirby, Kevin Gregory-Evans · 2026
A Pathogenic
<i>ANK1</i>
c.5096G>A Mutation Disrupting the Ankyrin‐1/
<i>β</i>
‐Spectrin Interaction in Hereditary Spherocytosis
DOI 10.1155/humu/7320235 Xu Linglong, Gao Jingwen, Zhu Wenting, Lu Nina, Ding Xiaoxiao, Zhao Lei, Zhou Siyun, Cai Zihao, Zhong Zhengyang, Zhu Bo, Chen Sai, Guo Yanrong, Chen Jianlin, Chen Jie, Ding Xiaofei, Chen Guang · 2026
Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCC
DOI 10.1155/humu/9214621 Karina L. Bursch, Salomão D. Jorge, Audrey E. Catlin, Raymundo Nuñez, Michael D. LeClaire, Jacob Licklider, Raul A. Urrutia, Brian C. Smith · 2026
Insights Into
<i>RP2</i>
‐Associated Retinopathy: From Molecular Basis to Clinical Translation
DOI 10.1155/humu/1839164 Nina Bögershausen, Patricia Döring, Maximilian Gerhardt, Alisa Fedorenko, Carolin Strohmeyer, Rozhin Bayati, Yun Li, Gökhan Yigit, Emrah Kaygusuz, Oscar Gutiérrez-Gutiérrez, Marianne Gaubert, Behnam Javanmardi, Karin Boss, Antonia Kowallick, Peter Krawitz, Stylianos Michalakis, Marius Ueffing, Wolfram-Hubertus Zimmermann, Hans Hoerauf, Hildegard Büning, Nicolas Feltgen, Lukas Cyganek, Bernd Wollnik · 2026
Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes
DOI 10.1155/humu/7247751 José Pereira dos Santos Júnior, Maria Carolina Fernandes Cabral dos Santos, Lidiane Gomes da Silva, Wilson José da Silva Júnior, Camila Corradi, Veridiana Munford, Valdir de Queiroz Balbino, Túlio de Lima Campos, Carlos Frederico Martins Menck, Jaqueline de Azevêdo Silva · 2026
Peripheral Immune and Metabolic Dysregulation in Migraine, Ménière′s Disease, and Vestibular Migraine: A Single‐Cell Atlas Study
DOI 10.1155/humu/2426414 Mika Pan, Liyan Lu, Wenyi Song, Youfeng Xie, Guining Liang, Qingyan Wei, Qi Huang, Jingyi Zeng, Yating Lan, Chun Zou, Donghua Zou, Li Su, Qiling Wan · 2026
Integrative Multiomics Mendelian Randomization Prioritizes Endoplasmic Reticulum Stress‐Related Genes Associated With Gastric Cancer Risk
DOI 10.1155/humu/3845963 Dong Yang, Yuanlin Liu, Xiangyu Meng, Chao Wang, Zhiyong Yu, Tao Zhang · 2026
A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population
DOI 10.1155/humu/2418005 Nancy S. Younis, Rahma M. Alkabsh, Shahad M. Nasser Alqahtani, Hajer Aljuail, Manar A. Alhashim, Shahad A. Bokhamsin, Layla J. Albaqshi, Salsabil F. Alqadhib, Jumanah A. Aldandan, Zahra A. Alshakhs, Maryam H. Altaweel, Maged E. Mohamed · 2026
NDC80 as a Prognostic Biomarker: Insights From Single‐Cell RNA Sequencing and Machine Learning in Lung Adenocarcinoma
DOI 10.1155/humu/3006079 Jiacheng Yuan, Taotao Yan, Jiahai Shi · 2026
<i>CDHR2</i>
c.2233C > T Is Involved in Human Familial Ovarian Immature Teratoma With
<i>BMP15</i>
c.262C > T
DOI 10.1155/humu/8441244 Yuntao Hao, Xi Kang, Yakun Liu, Hongwei Fan, Yan Li, Shan Kang · 2026
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