‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras +19 more
wiley +1 more source
Causal relationships between blood metabolites and glioblastoma risk: a large-scale Mendelian randomization study. [PDF]
Huang L +5 more
europepmc +1 more source
Deviation From Genetically Predicted BMI and All‐Cause Mortality: A Cohort Study in the UK Biobank
ABSTRACT Objective The relation between genetically predicted BMI (gBMI) and actual BMI may have health effects. This study examines the relationship between deviations from gBMI and all‐cause mortality in 208,146 UK Biobank participants. Methods We derived gBMI from polygenic risk scores, with deviations calculated as the difference between observed ...
Nuno R. Zilhao +4 more
wiley +1 more source
Causal associations between cognitive impairments and retinal diseases: A two-sample Mendelian randomization study. [PDF]
Shi Q +5 more
europepmc +1 more source
Genetics in the United States and Great Britain 1890-1930 : queries and speculations [PDF]
Kevles, Daniel J.
core
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei +9 more
wiley +1 more source
Integration of Mendelian randomization and transcriptome wide association studies for causal gene identification in ovarian cancer genetic architecture. [PDF]
Yang Q, Zeng Z, Wang J, Wei X.
europepmc +1 more source
Assessing causality between inflammatory bowel diseases with frailty index and sarcopenia: a bidirectional Mendelian randomization study [PDF]
Peng Wang +5 more
openalex +1 more source

