Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland
SM Kerr, L Klaric, MD Muckian, E Cowan… - European Journal of …, 2024 - nature.com
For breast and ovarian cancer risk assessment in the isolated populations of the Northern
Isles of Orkney and Shetland (in Scotland, UK) and their diasporas, quantifying genetically …
Isles of Orkney and Shetland (in Scotland, UK) and their diasporas, quantifying genetically …
Global perspectives on returning genetic research results in Parkinson's disease
In the era of precision medicine, genetic test results have become increasingly relevant in
the care of patients with Parkinson's disease (PD) and their families. While large PD …
the care of patients with Parkinson's disease (PD) and their families. While large PD …
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan
K Ohneda, Y Suzuki, Y Hamanaka, S Tadaka… - Journal of Human …, 2025 - nature.com
Large-scale population cohort studies that collect genomic information are tasked with
returning an assessment of genetic risk for hereditary cancers to participants. While several …
returning an assessment of genetic risk for hereditary cancers to participants. While several …
Additional findings from the 100,000 Genomes Project: A qualitative study of recipient perspectives
JJ Nolan, J Forrest, E Ormondroyd - Genetics in Medicine, 2024 - Elsevier
Abstract Purpose Participants in the 100,000 Genomes Project, a clinical/research initiative
delivered through the UK National Health Service, were offered screening for “additional …
delivered through the UK National Health Service, were offered screening for “additional …
Global Perspectives on Returning Genetic Research Results in Parkinson Disease
AH Tan, P Saffie-Awad, AF Schumacher Schuh… - Neurology …, 2024 - neurology.org
Background and Objectives In the era of precision medicine, genetic test results have
become increasingly relevant in the care of patients with Parkinson disease (PD). While …
become increasingly relevant in the care of patients with Parkinson disease (PD). While …
Two founder variants account for over 90% of pathogenic BRCA alleles in the Scottish Islands Orkney and Shetland
SM Kerr, L Klaric, M Muckian, E Cowan… - European Journal of …, 2024 - research.ed.ac.uk
Pathogenic variants in BRCA1 and BRCA2 confer a high lifetime risk of breast, ovarian and,
for BRCA2, male breast and prostate cancer [1–3]. Genetic testing for disease-associated …
for BRCA2, male breast and prostate cancer [1–3]. Genetic testing for disease-associated …
Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for diagnosing inborn errors of immunity
Background Inborn errors of immunity (IEIs) comprise more than 500 different rare
congenital disorders of the immune system and are characterized by susceptibility to …
congenital disorders of the immune system and are characterized by susceptibility to …
[HTML][HTML] Nephrologists' Views on a Workflow for Returning Genetic Results to Research Participants
Introduction Returning research-based genetic results (gRoR) to participants in nephrology
research can improve care; however, the practice raises implementational questions and no …
research can improve care; however, the practice raises implementational questions and no …
Two founder variants account for over 90% of pathogenic BRCA alleles in Orkney and Shetland
SM Kerr, L Klaric, MD Muckian, E Cowan, L Snadden… - medRxiv, 2024 - medrxiv.org
For breast and ovarian cancer risk assessment in the isolated populations of the Northern
Isles of Orkney and Shetland (in Scotland, UK) and their diasporas, quantifying genetically …
Isles of Orkney and Shetland (in Scotland, UK) and their diasporas, quantifying genetically …
Identification of actionable genetic variants in 4,198 Scottish volunteers from the Viking Genes research cohort and implementation of return of results
SM Kerr, L Klaric, MD Muckian, K Johnston, C Drake… - medRxiv, 2024 - medrxiv.org
The benefits of returning clinically actionable genetic results to participants in research
cohorts are accruing, yet such a genome-first approach is challenging. Here, we describe …
cohorts are accruing, yet such a genome-first approach is challenging. Here, we describe …