Article
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Molecular psychiatry - 1 Dec 2020
Koriath C, Kenny J, Adamson G, Druyeh R, Taylor W, Beck J, Quinn L, Mok T H, Dimitriadis A, Norsworthy P, Bass N, Carter J, Walker Z, Kipps C, Coulthard E, Polke J M, Bernal-Quiros M, Denning N, Thomas R, Raybould R, Williams J, Mummery C J, Wild E J, Houlden H, Tabrizi S J, Rossor M N, Hummerich H, Warren J D, Rowe J B, Rohrer J D, Schott J M, Fox N C, Collinge J, Mead S
Abstract excerpt
Next-generation genetic sequencing (NGS) technologies facilitate the screening of multiple genes linked to neurodegenerative dementia, but there are few reports about their use in clinical practice. Which patients would most profit from testing, and information on the likelihood of discovery of a causal variant in a clinical syndrome, are conspicuously absent from the literature, mostly for a lack of large-scale...
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