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,…
Genetic Links for Common Inflammatory Arthritis Open Treatment Options
Calcium pyrophosphate deposition disease (CPPD), or pseudogout, is one of the most common forms of inflammatory arthritis in…
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,…
The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study
JOHBOC Registration Committee: Masami Arai (Department of Clinical Genetics, Juntendo University, Graduate School of Medicine, Tokyo, Japan), Seigo…
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting…
Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
Yang L, Liu X, Li Z, Zhang P, Wu B, Wang H, et al. Genetic aetiology of early…
Hemizygous SMARCA1 variants cause X-linked intellectual disability
Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. X-Linked intellectual disability update 2022. Am…