Frequency and phenotype associations of rare variants in 5 monogenic cerebral small vessel disease genes in 200,000 UK Biobank participants

Autor: Amy Christina Ferguson, Sophie Thrippleton, David Henshall, Ed Whittaker, Bryan Conway, Malcolm MacLeod, Rainer Malik, Konrad Rawlik, Albert Tenesa, Cathie Sudlow, Kristiina Rannikmae

Publikováno v: Ferguson, A, Thrippleton, S, Henshall, D E, Whittaker, E, Conway, B R, MacLeod, M, Malik, R, Rawlik, K, Tenesa, A, Sudlow, C L M & Rannikmae, K 2022, ' Frequency and phenotype associations of rare variants in 5 monogenic cerebral small vessel disease genes in 200,000 UK Biobank participants ', Neurology Genetics, vol. 8, no. 5, e200015, pp. e200015 . https://doi.org/10.1212/NXG.0000000000200015

Background and ObjectivesBased on previous case reports and disease-based cohorts, a minority of patients with cerebral small vessel disease (cSVD) have a monogenic cause, with many also manifesting extracerebral phenotypes. We investigated the frequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fff730f3a7d0cb86647e7152c482f3e
https://hdl.handle.net/20.500.11820/eb6d2e01-d835-40ee-b3c7-ab014c01dd8c

Geochemical fingerprinting sources of arsenic, aluminum, and lead to the San Juan River through the Navajo Nation, Four Corners region, USA

Autor: Johanna Blake, Jeb Brown, Christina Ferguson, Douglas Yager, Shaleene Chavarria, Rachel Mixon, Grady Ball, Zach Shephard

Publikováno v: Goldschmidt2022 abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c59f7accba878f55ded4fb4e776e5559
https://doi.org/10.46427/gold2022.12331