Academic Journal
Q1Human Genetics
About Human Genetics
Human Genetics is a scholarly journal published by Springer Science and Business Media Deutschland GmbH. SCImago 2025 lists it in Q1, with an SJR of 1.562 and H-index of 159.
Coverage: 1964-2026. Research categories: Genetics (Q1); Genetics (clinical) (Q1).
Source-backed journal facts
Topics in published research
Genomic variations and chromosomal abnormalities; Chromosomal and Genetic Variations; Prenatal Screening and Diagnostics; Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities; Genetics and Neurodevelopmental Disorders; Genomics and Chromatin Dynamics.
OpenAlex classifies topics from published works. These topics are not the publisher’s official aims and scope.
Reported open-access list prices
3,690.00 USD; 5,490.00 EUR
APC list prices reported by OpenAlex, which obtains this information from DOAJ. Confirm current charges, taxes, waivers and eligibility with the publisher; this is not a fee quotation.
Source: OpenAlex source record. Retrieved 2026-10-03. Source record updated 2026-10-02. OpenAlex metrics are different from SCImago metrics and the Clarivate Journal Impact Factor.
Journal Metrics
Quartile, SJR and the listed SCImago H-index use the 2025 imported SCImago dataset. A quartile may vary by subject category. Values without a source or reporting year are unverified historical entries. Verify the current Journal Impact Factor with Clarivate or the publisher before using it.
Aims & Scope
The publisher’s official aims and scope have not yet been verified for this profile. Use the journal website to check subject fit and accepted article types before submitting.
Recent Research Articles
Latest publications matched automatically by ISSN.
Association of apolipoprotein E gene with risk, cognition, and prognosis of epilepsy
Shengyi Liu, Lingjie Fan, Zihua He, Tong Yi et al.
2026-12 · DOI: 10.1007/s00439-026-02876-9A case-control study on IL-8 gene polymorphisms and serum IL-8 levels in patients with age-related macular degeneration in India
Anshu Yadav, Jitender Phogat, Manoj Yadav, Aarti Bhardwaj et al.
2026-12 · DOI: 10.1007/s00439-026-02874-xClinical, immunological, and molecular characteristics of severe combined immune deficiency in China
Feifan Xiao, Qinhua Zhou, Chenghao Wang, Haili Yao et al.
2026-12 · DOI: 10.1007/s00439-026-02879-6Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling
Honghan Zhang, Wenqian Zhao, Lanxin Ma, Xueli Yang et al.
2026-12 · DOI: 10.1007/s00439-026-02880-zPolygenic risk scores in human genetics for study design discovery and translation
Hui-Qi Qu, Hakon Hakonarson
2026-12 · DOI: 10.1007/s00439-026-02873-yGenetic variation in BDNF is associated with opioid use disorder severity
Dara M. Kusic, Matthew Salzman, Jessica Heil, Struan F. A. Grant et al.
2026-12 · DOI: 10.1007/s00439-026-02866-xOptical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders
Rosa Catalina Lederbogen, Sabine Hoffjan, Cornelia Köhler, Charlotte Thiels et al.
2026-12 · DOI: 10.1007/s00439-026-02856-zDevelopment of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation
Sarah Hull, M. Mero, W. Hankey, K. Lee et al.
2026-12 · DOI: 10.1007/s00439-026-02871-0Integrating genetic, historical, and demographic evidence to reconstruct Argentina’s matrilineal ancestry
F. Gagliardi, R. Fernández, V. Genoud, F. Picado et al.
2026-12 · DOI: 10.1007/s00439-026-02870-1From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort
Renata Szalai, Agnes Till, Krisztina Galimurka, Zsolt Banfai et al.
2026-12 · DOI: 10.1007/s00439-026-02867-wExpected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer
Michiel Vlaming, Lambertus A. L. M. Kiemeney, Wouter Koole, Inge M. van Oort et al.
2026-12 · DOI: 10.1007/s00439-026-02854-1Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China
Shuyi Li, Yuchun Wang, Qu Shen, Jinguo Zan et al.
2026-12 · DOI: 10.1007/s00439-026-02864-zClinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia
Dan Xia, Xiaofang Peng, Zihao Deng, Shuyun Deng et al.
2026-12 · DOI: 10.1007/s00439-026-02860-3CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs
Dawid Skoczek, Jerzy Hohendorff, Maciej T. Malecki, Alicia Roig-Merino et al.
2026-12 · DOI: 10.1007/s00439-026-02863-0TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing
S Rehan Ahmad, Md. Zeyaullah, Mohammad Suhail Khan, Abdelrhman A. G. Altijani et al.
2026-12 · DOI: 10.1007/s00439-026-02862-1The Russian FSHD registry: a first look at the cohort
Anna Kuchina, Darya Sherstyukova, Artem Borovikov, Margarita Soloshenko et al.
2026-12 · DOI: 10.1007/s00439-026-02865-yGenetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations
Wendi Dang, Xiaoming Wu, Jing Zhao, Song Lin et al.
2026-12 · DOI: 10.1007/s00439-026-02861-2Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension
Lin Yan, Yang Qiu, Zhiwen Mo, Mingli Li et al.
2026-12 · DOI: 10.1007/s00439-026-02859-wα-Thalassemia in Oraons—indigenous tribal population from Jharkhand, India: insights to common deletions
Shaikh Roshan, Nadkarni Anita, Kerketta Lily, Ghosh Kanjaksha et al.
2026-12 · DOI: 10.1007/s00439-026-02857-yDiscovery of a DNA methylation episignature for Weiss-Kruszka syndrome
Haley McConkey, Liselot van der Laan, Sourav Ghosh, Lotte Kleinendorst et al.
2026-12 · DOI: 10.1007/s00439-026-02846-1Reviews
Community Reviews
Version History
September 25, 2026 at 7:26 am
September 25, 2026