The role of untranslated region variants in Mendelian disease: a review
100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, et al. 100,000…
A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot
van der Linde D, Konings EEM, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJM, et al. Birth prevalence…
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients
Carrier L. Targeting the population for gene therapy with MYBPC3. J Mol Cell Cardiol. 2021;150:101–8. Article CAS PubMed …
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children
In the present study, which aimed to collect the views of those involved regarding urGS and its implementation,…
Leveraging genetics to understand ADAR1-mediated RNA editing in health and disease
Crick, F. Molecular biology in the year 2000. Nature 228, 613–615 (1970). Article CAS PubMed Google Scholar Crick,…
The genetic basis of human height
Tanner, J. M. A History of the Study of Human Growth (Cambridge Univ. Press, 1981). Galton, F. Regression…