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European Journal of Human Genetics

  • h-index: 170
  • Total citations: 253,131
  • Total papers: 6,745
  • Impact factor: 3.9735772357723578

Homepage: http://www.nature.com/ejhg/

European Journal of Human Genetics

Journal
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H-Index = 170
Citations = 253.13K+

Papers

Evidence

Recent papers in European Journal of Human Genetics

  1. digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screeningEuropean Journal of Human Genetics · Tue,
  2. Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesiaEuropean Journal of Human Genetics · Tue,
  3. Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patientsEuropean Journal of Human Genetics · Thu,
  4. Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screeningEuropean Journal of Human Genetics · Fri,
  5. Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPDEuropean Journal of Human Genetics · Tue,
  6. Patient views on receiving a pharmacogenetic passport – a mixed methods study exploring experiences and use after an opportunistic offerEuropean Journal of Human Genetics · Tue,
  7. Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case seriesEuropean Journal of Human Genetics · Wed,
  8. The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspectiveEuropean Journal of Human Genetics · Fri,
  9. Professional bodies: how best to promote and support individuals working in human genetics and genomicsEuropean Journal of Human Genetics · Fri,
  10. Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VIEuropean Journal of Human Genetics · Sat,

About European Journal of Human Genetics

European Journal of Human Genetics carries 6,745 indexed papers, 253,131 citations, h-index 170 in Synapse's enriched corpus. Each paper indexed here includes structured clinical evidence extraction (PICO), methodology classification with level of evidence, and links to related guideline recommendations where applicable.

On Synapse's credibility score (derived from SJR ranking and cross-citation patterns), European Journal of Human Genetics sits among the highest-credibility cardiovascular journals.

The journal's official homepage is at http://www.nature.com/ejhg/.

Use the feed below to follow new European Journal of Human Genetics publications with AI-enriched analysis — each paper is decomposed into study design, population, intervention, comparator, primary outcome, and key finding, with the underlying evidence traceable to the primary source.

Deterministic synthesis from Synapse's enriched records — 111 words.