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Human Genetics
Published by Springer-Verlag.
ISSN 0340-6717 / 1432-1203
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Aims & scope
Human Genetics publishes peer-reviewed research. Manuscripts pass a technical check and a scope check by the handling editor before going to independent reviewers.
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Recently published
The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects
DOI 10.1007/s00439-026-02888-5 Sarah U. Morton, Enrique Mondragon-Estrada, Rui Qian, Omobola O. Oluwafemi, Kit Sing Au, Hope Northrup, Wendy K. Chung, A. J. Agopian, Tina O. Findley · 2026
Gene-based association analysis of depression risk among European ancestry Parkinson’s disease patients
DOI 10.1007/s00439-026-02877-8 Hanwen Wang, Kimberly Paul, Cynthia Kusters, Christina M. Lill, Jin Zhou, Jeff Bronstein, Beate Ritz · 2026
Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics
DOI 10.1007/s00439-026-02886-7 Omar Casadiego, Jennifer Castro, Aura Mantilla, Thomas Vanegas, Nathaly Ramírez-García, Laura Fernanda Neira Fuentes, Norma Serrano · 2026
A genome-wide association study of cognitive impairment in a Chinese cohort of 1,040 individuals
DOI 10.1007/s00439-026-02887-6 Maggie Haitian Wang, Yexian Zhang, Rui Sun, Fudong Li, Tao Zhang, Xue Gu, Jingzhi Lou, Lirong Cao, Shimin Su, Hong Zheng, Caiqi Liu, Marc Ka Chun Chong, William Ka Kei Wu, Jun Yu, Benny Chung-Ying Zee, Junfen Lin · 2026
Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants
DOI 10.1007/s00439-026-02883-w Tayyaba Ishaq, Amatul Raqeeb Jawaid, Samina Yasin, Noor ul Ain, Ambreen Faryal, Memoona Shaukat, Muhammad Noman, Niaz Muhammad, Muddassar Iqbal, Fatema Alzahrani, Anum Shafique, Rimsha Zulfiqar, Ambreen Kanwal, Fowzan S. Alkuraya, Elizabeth Wohler, Nara Sobreira, Go Hun Seo, Outi Makitie, Sadaf Naz · 2026
Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients
DOI 10.1007/s00439-026-02881-y Mohamed S. Abdel-Hamid, Sherif F. Abdel-Ghafar, Mahmoud Y. Issa, Walaa ElNaggar, Hasnaa M. Elbendary, Karima Rafat, Nagwa Gaboon, Mahmoud M. Noureldeen, Ziad N. Rezk, Nour Elkhateeb, Laila Selim, Joseph G. Gleeson, Maha S. Zaki · 2026
Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island
DOI 10.1007/s00439-026-02869-8 Mariko Isshiki, Augustinus Soemantri, Ryutaro Ohtsuka, Minato Nakazawa, Takafumi Ishida, Jun Ohashi · 2026
Annual average exposure to ambient air pollution, polygenic risk, and incidence of major chronic diseases: a large-scale prospective cohort study
DOI 10.1007/s00439-026-02875-w Jing Tian, Sicong Wang, Xinyi Chang, Yi Han · 2026
Association of apolipoprotein E gene with risk, cognition, and prognosis of epilepsy
DOI 10.1007/s00439-026-02876-9 Shengyi Liu, Lingjie Fan, Zihua He, Tong Yi, Jiaqi Wang, Junhan Zhao, Josemir W. Sander, Dong Zhou, Jinmei Li · 2026
A case-control study on IL-8 gene polymorphisms and serum IL-8 levels in patients with age-related macular degeneration in India
DOI 10.1007/s00439-026-02874-x Anshu Yadav, Jitender Phogat, Manoj Yadav, Aarti Bhardwaj, Vishal Panghal, Supreme Goel, Mamta Verma, Sapna Sharma, Mayank Singh, Rakesh Kumar, Mukesh Tanwar · 2026
Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China
DOI 10.1007/s00439-026-02879-6 Feifan Xiao, Qinhua Zhou, Chenghao Wang, Haili Yao, Jia Hou, Bijun Sun, Wenjing Ying, Xiaoying Hui, Lipin Liu, Liangyan Zou, Luyao Liu, Ying Wang, Xiaowen Qian, Xiaowen Zhai, Bingbing Wu, Wenhao Zhou, Jinqiao Sun, Wenjie Wang, Xiaochuan Wang · 2026
Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling
DOI 10.1007/s00439-026-02880-z Honghan Zhang, Wenqian Zhao, Lanxin Ma, Xueli Yang, Jinghua Gao, Xiaoling Liu, Y.-G. Xie, Ying Hu, Heng Luo, Jian Han · 2026
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