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Human Genetics is a peer-reviewed journal published by Springer Nature, covering Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Prenatal Screening and Diagnostics.
| Publisher | Springer Nature |
|---|---|
| Reference style | Numbered (Springer Basic) Numbered — [1], [2] in the text 1. Smith A, Jones B, Lee C (2023) A representative article title. Human Genetics 12:45–58
Formats any DOI in Human Genetics style. No sign-up. |
| Publishes research in | Genomic variations and chromosomal abnormalities Chromosomal and Genetic Variations Prenatal Screening and Diagnostics Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Genetics and Neurodevelopmental Disorders |
| ISSN | 0340-6717 |
| Citation impact (2-yr) | 3.5 |
| h-index | 208 |
| i10-index | 8,880 |
| Total citations | 464,362 |
| Article processing charge | $4,690 |
| Top institutions publishing here | Inserm |
| Journal website | www.springer.com |
| You get | A submission-ready PDF and the editable LaTeX source — ready to submit. |
Citations each year’s papers have accumulated so far — the most recent years are still building up.
) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently…
The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD…
Heterogeneous nuclear ribonucleoproteins (hnRNPs) represent a large family of RNA-binding proteins (RBPs) that contribute to multiple aspects of nucleic acid metabolism including alternative splicing, mRNA stabilization, and transcriptional and translational regulation. Many hnRNPs share general features, but differ in domain composition and functional properties. This review will discuss the current knowledge about the different hnRNP…
