Genome sequence analyses identify novel risk loci for multiple system atrophy
Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by
parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is …
parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is …
Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein's anomaly
Z Zhou, X Huang, X Tang, W Chen, Q Chen… - Human Genetics and …, 2023 - cell.com
Ebstein's anomaly is a rare congenital heart disease characterized by tricuspid valve
downward displacement and is associated with additional cardiac phenotypes such as left …
downward displacement and is associated with additional cardiac phenotypes such as left …
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
AL Bruel, A Vitobello, FT Mau-Them, S Nambot… - Genetics in …, 2019 - nature.com
Purpose Exome sequencing (ES) powerfully identifies the molecular bases of
heterogeneous conditions such as intellectual disability and/or multiple congenital …
heterogeneous conditions such as intellectual disability and/or multiple congenital …