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JOURNAL OF HUMAN GENETICS

SPRINGERNATURE, United Kingdom

JOURNAL OF HUMAN GENETICS is an academic journal published by SPRINGERNATURE (United Kingdom). Identifiers: ISSN 1434-5161, eISSN 1435-232X. Indexed in SCIE, SCOPUS. Metrics: JIF 2.5, CiteScore 6.2, SJR 1.012, SNIP 0.93. Subject areas: GENETICS & HEREDITY. tlooto lists 4,066 papers from this journal.

CiteScore

6.20

Scopus citation metric

SJR

1.012

SCImago rank

SNIP

0.93

Source normalized impact

Percentage rank

-

JIF percentile rank

Journal profile

ISSN
1434-5161
eISSN
1435-232X
Abbreviation
J HUM GENET
Publisher
SPRINGERNATURE
Country
United Kingdom

Web of Science categories

SCIEGENETICS & HEREDITY

Scopus ASJC categories

1311 Genetics2716 Genetics (clinical)

Keywords

Genetics & Heredity

Papers in this journal

Recent papers

  1. A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.

    2026

  2. Identification and structural characterisation of a novel mutation in the CNKSR2 gene associated with Houge-Type X-Linked Intellectual Developmental Disorder.

    2026 · 1 citations

  3. Congenital diarrhea/enteropathy due to a novel biallelic PERCC1 variant - a case-based review and variant analysis.

    2026

  4. Bidirectional Mendelian randomization of leukocyte counts, renal function, and Lipocalin-2 Levels: disentangling the genetic links, causal pathways and cardiovascular outcomes

    2026

  5. Psychological distress and cancer worry in unaffected relatives undergoing cascade testing with multigene panel testing.

    2026

Most cited papers

  1. The HLA genomic loci map: expression, interaction, diversity and disease

    2009 · 738 citations

  2. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

    2011 · 692 citations

  3. Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction

    2006 · 633 citations

  4. The promise of whole-exome sequencing in medical genetics

    2013 · 545 citations

  5. Histone modifications for human epigenome analysis

    2013 · 438 citations