European Journal of Human Genetics

Aims & Scope

The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics.

It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community.

Key areas include: -Monogenic and multifactorial disorders -Development and malformation -Hereditary cancer -Medical Genomics -Gene mapping and functional studies -Genotype-phenotype correlations -Genetic variation and genome diversity -Statistical and computational genetics -Bioinformatics -Advances in diagnostics -Therapy and prevention -Animal models -Genetic services -Community genetics

View Aims & Scope

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Metrics & Ranking

Impact Factor

Year	Value
2025	4.6
2024	3.70

Journal Rank

Year	Value
2024	2127

Journal Citation Indicator

Year	Value
2024	2261

SJR (SCImago Journal Rank)

Year	Value
2024	1.603

Quartile

Year	Value
2024	Q1

h-index

Year	Value
2024	147

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Abstracting & Indexing

Journal is indexed in leading academic databases, ensuring global visibility and accessibility of our peer-reviewed research.

• Scopus
• Google Scholar
• Web of Science
• Medline
• PubMed
• Embase

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Subjects & Keywords

Journal’s research areas, covering key disciplines and specialized sub-topics in Biochemistry, Genetics and Molecular Biology and Medicine, designed to support cutting-edge academic discovery.

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Most Cited Articles

The Most Cited Articles section features the journal's most impactful research, based on citation counts. These articles have been referenced frequently by other researchers, indicating their significant contribution to their respective fields.

• Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

  Citation: 1174

  Authors: Stéphanie, Deborah M., Annie, Charlotte, Charlotte, Valérie, Daniel, Yann, Ana

• Sex-specific, male-line transgenerational responses in humans

  Citation: 925

  Authors: Marcus E, Lars Olov, Gunnar, Sören, Kate, Michael, Jean

• The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic

  Citation: 717

  Authors:

• Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period

  Citation: 680

  Authors: G, LO, S

• The family based association test method: strategies for studying general genotype–phenotype associations

  Citation: 609

  Authors: Steve, Xin, Nan M

• von Hippel–Lindau disease: A clinical and scientific review

  Citation: 576

  Authors: Eamonn R, Hartmut PH, Stéphane

• Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

  Citation: 558

  Authors: Elaine A, Narasimhan, Hui, Viatcheslav R, Zhaoqing, Elizabeth M, Kerry, Brant C, Thomas, Deborah Alexa, Bernice A

• Bardet–Biedl syndrome

  Citation: 555

  Authors: Elizabeth, Philip L

• A text-mining analysis of the human phenome

  Citation: 535

  Authors: Marc A, Jorn, Gert, Han G, Jack A M

• Dynamic consent: a patient interface for twenty-first century research networks

  Citation: 528

  Authors: Jane, Edgar A, David, Michael, Harriet, Karen

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