Overcoming regulatory barriers to the implementation of AI agents in healthcare – Nature
Overcoming regulatory barriers to the implementation of AI agents in healthcare Nature AI in health care could save lives…
Exercise therapy and self-management support for individuals with multimorbidity: a randomized and controlled trial
Study design This was a pragmatic, assessor-blinded, multicenter, parallel-group RCT (1:1 treatment allocation) with follow-up assessments at 4,…
Clinical progression and genetic pathways in body-first and brain-first Parkinson’s disease | Molecular Neurodegeneration
Study participants We analysed data from 1120 clinically diagnosed and 910 prodromal Parkinson’s disease (PD) individuals enrolled in…
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…
Inherited mitochondrial genetics as a predictor of immune checkpoint inhibition efficacy in melanoma
MT-HGs are associated with efficacy in NIVO-treated patients In this study, we tested whether MT-HGs, as inherited genetic…
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…
Integrating the environmental and genetic architectures of aging and mortality
Study design and participants The UKB is a prospective cohort study with extensive genetic and phenotype data available…