Ancient viral DNA found to regulate human gene expression
A new international study suggests that ancient viral DNA embedded in our genome, which were long dismissed as…
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…
Discovery of a genetic dimmer switch controlling embryonic development
A team of scientists at the MRC Laboratory of Medical Sciences (LMS) has uncovered a previously unknown mechanism…
Review of 40 genes causing congenital myasthenic syndromes
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and pathologic features of congenital myasthenic syndromes…
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network
Cheung R, Insigne KD, Yao D, Burghard CP, Wang J, Hsiao Y-HE, et al. A multiplexed assay for…
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement
We here describe the clinical features of a cohort of 10 patients with germline SH2B3 variants. In our…
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…
An application of the MR-Horse method to reduce selection bias in genome-wide association studies of disease progression
Simulations In order to test this novel application of the method we first simulated GWAS of disease incidence…
Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a condition that in recent years has slowly but surely shifted its position…
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 …