# European Journal of Human Genetics

**Type:** Journals  
**Canonical URL:** https://scholariq.org/journals/european-journal-of-human-genetics/

## Facts

| Field | Value |
| --- | --- |
| APC (USD) | 3,690 |
| Citations | 281,223 |
| h-index | 180 |
| Homepage | http://www.nature.com/ejhg/ |
| Open Access | false |
| ISSN-L | 1018-4813 |
| ISSNs | 1018-4813,1476-5438 |
| OpenAlex ID | https://openalex.org/S121703463 |
| Publisher | Springer Nature |
| Works | 7,323 |

## Journal papers

Showing 12 of 31.

- [Sex-specific, male-line transgenerational responses in humans](https://scholariq.org/papers/sex-specific-male-line-transgenerational-responses-in-humans/)
- [von Hippel–Lindau disease: A clinical and scientific review](https://scholariq.org/papers/von-hippel-lindau-disease-a-clinical-and-scientific-review/)
- [Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect](https://scholariq.org/papers/meta-analysis-of-telomere-length-in-19-713-subjects-reveals-high-heritability/)
- [Evidence of genetic enrichment for exceptional survival using a family approach: the Leiden Longevity Study](https://scholariq.org/papers/evidence-of-genetic-enrichment-for-exceptional-survival-using-a-family-approach/)
- [Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening](https://scholariq.org/papers/twenty-year-trends-in-the-prevalence-of-down-syndrome-and-other-trisomies-in/)
- [Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening](https://scholariq.org/papers/non-invasive-prenatal-testing-for-aneuploidy-and-beyond-challenges-of/)
- [Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations](https://scholariq.org/papers/axenfeld-rieger-syndrome-and-spectrum-of-pitx2-and-foxc1-mutations/)
- [ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population](https://scholariq.org/papers/ace2-gene-variants-may-underlie-interindividual-variability-and-susceptibility/)
- [SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations](https://scholariq.org/papers/slc26a4-gene-is-frequently-involved-in-nonsyndromic-hearing-impairment-with/)
- [The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome](https://scholariq.org/papers/the-type-of-variants-at-the-col3a1-gene-associates-with-the-phenotype-and/)
- [The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder](https://scholariq.org/papers/the-c9orf72-expansion-mutation-is-a-common-cause-of-als-ftd-in-europe-and-has-a/)
- [Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe](https://scholariq.org/papers/rare-chromosome-abnormalities-prevalence-and-prenatal-diagnosis-rates-from/)

## Journal top topics

Showing 8 of 25.

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [BRCA gene mutations in cancer](https://scholariq.org/topics/brca-gene-mutations-in-cancer/)
- [Genetic Associations and Epidemiology](https://scholariq.org/topics/genetic-associations-and-epidemiology/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Prenatal Screening and Diagnostics](https://scholariq.org/topics/prenatal-screening-and-diagnostics/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)
- [Genetic factors in colorectal cancer](https://scholariq.org/topics/genetic-factors-in-colorectal-cancer/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.