The complex genomics of single gene disorders

Eur J Hum Genet. 2023 Jun;31(6):609-610. doi: 10.1038/s41431-023-01386-w.

Author

Alisdair McNeill^{1

2}

Affiliations

¹ Department of Neuroscience, The University of Sheffield, Sheffield, UK. a.mcneill@sheffield.ac.uk.
² Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK. a.mcneill@sheffield.ac.uk.

PMID: 37291406
PMCID: PMC10250412 (available on 2024-06-01)
DOI: 10.1038/s41431-023-01386-w

Abstract

Using genomic technologies we are beginning to identify some of the mechanisms underlying clinical variability in single gene disorders.

Publication types

Editorial
Comment

MeSH terms

Genetic Diseases, Inborn* / genetics
Genomics*
Humans