Plasma proteome variation and its genetic determinants in children and adolescents
Discovery and replication cohorts Our discovery cohort included 2,147 children and adolescents aged 5–20 years from the HOLBAEK Study,…
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,…
Searching for the origin of human brain tumours
The anatomical location and cell type from which tumours originate has biological, diagnostic and therapeutic implications, but understanding…
Genome synteny reveals hidden enhancer conservation
Long, H. K., Prescott, S. L. & Wysocka, J. Cell 167, 1170–1187 (2016). Article CAS PubMed PubMed Central …
Classification grid and evidence matrix for evaluating digital medical devices under the European union landscape
Definition of the scope of the grid The selected criteria included in the scope of the grid were…
Genomic landscape of multiple myeloma and its precursor conditions
The MM-like genomic score captures disease progression To characterize the somatic mutation landscape and drivers in precursor conditions…
Genome-wide association study of long COVID
Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland Vilma…
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,…