A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

doi:10.1002/humu.23946

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Article

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Human mutation - 1 Feb 2020

Ngo Kathie J, Rexach Jessica E, Lee Hane, Petty Lauren E, Perlman Susan, Valera Juliana M, Deignan Joshua L, Mao Yuanming, Aker Mamdouh, Posey Jennifer E, Jhangiani Shalini N, Coban-Akdemir Zeynep H, Boerwinkle Eric, Muzny Donna, Nelson Alexandra B, Hassin-Baer Sharon, Poke Gemma, Neas Katherine, Geschwind Michael D, Grody Wayne W, Gibbs Richard, Geschwind Daniel H, Lupski James R, Below Jennifer E, Nelson Stanley F, Fogel Brent L

Abstract excerpt

Genetic ataxias are associated with mutations in hundreds of genes with high phenotypic overlap complicating the clinical diagnosis. Whole-exome sequencing (WES) has increased the overall diagnostic rate considerably. However, the upper limit of this method remains ill-defined, hindering efforts to address the remaining diagnostic gap. To further assess the role of rare coding variation in ataxic disorders, we...

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PMID: 31692161
DOI: 10.1002/humu.23946
PMCID: PMC7182470

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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