Impact Factor
3.84
Journal Citation Impact
Estimated influence, citation density, publishing volume, and citation integrity from the analytics table.
Citation rate
3.81
1,433 total citations
h5-index
49
h5 depth signal
Cited share
80.3%
317 of 395
Total citations
1,433
Citation footprint
Metric signal
3.59
External metric anchor
Self-citation
1.7%
25 self-citations
Citations Trend
Monthly Publications Cadence
Citing Geographic Demographics
United States
1,632
United Kingdom
593
China
401
Germany
349
France
268
Citing Fields of Research
Genetics & Genomics
1,055
Neurodegenerative Disorders
613
Cell Biology
462
Cytogenetics
428
Cell Differentiation & Development
344
Publishing Activity & Reach
Volume, recency, access pattern, and citing-community signals from the journal analytics record.
All-time article footprint
14,048
Articles tracked across the journal lifetime
Indexed publication set
395
317 cited publications
Last 12 months
149
12.4 publications/month
Open access share
48.3%
72 OA publications in the last year
Leading citing country
United States
1,632 citing publications
Leading citing field
Genetics & Genomics
1,055 citing publications
Latest tracked publication
13 October 2026
10 recent records available
Coverage & Indexing History
v1n1,Apr. 1992-
v1n1,Apr. 1992-
Active Coverage
Research Focus & Classification
Indexed Subjects
Genetics & Genomics
Neurodegenerative Disorders
Cytogenetics
Musculoskeletal Disorders
Cell Biology
Noncoding RNA
Broad Categories
Genetics, Medical
Molecular Biology
Genetics & Genomics
Musculoskeletal Disorders
Neurodegenerative Disorders
Mitochondria
Cytogenetics
Ophthalmology
MeSH Descriptors
Cytogenetics
Genetics, Medical
Latest Publications
Recent article records with DOI-first linking and condensed abstracts.
01
DOI 10.1093/hmg/ddag108
Open DOI
VPS13C regulates triglyceride homeostasis and adipocyte differentiation
Background: Hypertriglyceridemia is a major risk factor for cardiometabolic diseases. VPS13C is a genome-wide significant locus for triglyceride with an incomplete understanding of its functional role in triglyceride biology. In this stu...
02
DOI 10.1093/hmg/ddag107
Open DOI
Gene regulatory behaviors of mutant CRX proteins demonstrated with late-stage human retinal organoids
Variants in the transcription factor CRX cause a spectrum of retinal degenerative disorders including Leber congenital amaurosis 7 (LCA7). LCA7-associated variants exert a dominant effect in developing photoreceptor cells, leading to cel...
03
DOI 10.1093/hmg/ddag106
Open DOI
Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in mice
Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly characterized by impairment of both diaphragm and lung development in utero. CDH presents as a spectrum of forms and severities, with diaphragm defects arising in the d...
04
DOI 10.1093/hmg/ddag104
Open DOI
DUOXA2-mediated thyroid hormone synthesis is indispensable for postnatal maturation of auditory function
More than 500 genes associated with hearing loss have been identified, yet the pathogenic mechanisms underlying most deafness-causing mutations remain to be clarified, hindering the development of viable clinical therapeutic strategies. ...
05
DOI 10.1093/hmg/ddag097
Open DOI
MEF2C promoter variants in patent ductus arteriosus: a genetic and functional study
Patent ductus arteriosus (PDA) is a common congenital heart disease (CHD) with a complex genetic basis. The transcription factor MEF2C plays a critical role in cardiac development, but the role of promoter region variants in PDA has not ...
06
DOI 10.1093/hmg/ddag098
Open DOI
Explaining the unexplained admixture mapping signals via rare variants: the HCHS/SOL
In admixed populations, formed by a mixing of two or more previously isolated populations, genomic segments can be traced to their ancestral populations (‘ancestries’). Admixture mapping (AM) associates local ancestry with outcomes in ad...
07
DOI 10.1093/hmg/ddag105
Open DOI
Multidisciplinary pathogenicity assessment of congenital hypothyroidism-associated SLC5A5 gene variants
Next-generation sequencing (NGS) has markedly expanded the mutational spectrum of monogenic congenital hypothyroidism (CH), but has also led to the identification of numerous variants of uncertain significance, limiting the clinical util...
08
DOI 10.1093/hmg/ddag103
Open DOI
Parkinson’s disease-associated LRRK2 risk variant, G2385R, enhances Rab substrate phosphorylation and impairs neuronal integrity
Mutations in the LRRK2 gene are the most frequent cause of familial Parkinson’s disease (PD) whereas common variants are associated with an increased risk for sporadic PD. LRRK2 encodes a multi-domain protein displaying two functional en...
09
DOI 10.1093/hmg/ddag100
Open DOI
Pleiotropy and eQTL analysis identify shared genetic architecture of lipid traits in African-ancestry populations
Dyslipidemia is a leading modifiable risk factor for cardiovascular disease (CVD), yet the shared genetic architecture of lipid traits remains poorly characterized, particularly in African-ancestry populations who bear a disproportionate...
10
DOI 10.1093/hmg/ddag101
Open DOI
Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype–phenotype correlations and reporting of 12 novel GALNS variants
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficient activity of N-acetylgalactosamine-6-sulfatase (GALNS). In this single-center study, we analyzed the clinical and genetic ch...
Bibliographical & Catalog Notes
Title from cover.
Latest issue consulted: Vol. 11, no. 7 (2002).
Available also online.
Vol. 1, no. 1 (APR 1992)19930831 Notice published Printed on acid-free paper