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…
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 …
The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services
Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael’s Hospital, Unity Health Toronto, Toronto, ON,…
Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene
Artificial Intelligence in genetic medicine offers great potential for improving diagnosis and treatment. However, sustainable AI implementation in…
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,…