Publications

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Author Title [ Year(Asc)]
Filters: Keyword is RNA Splicing and Author is Frésard, Laure  [Clear All Filters]
2019
Frésard, L. et al. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med 25, 911-919 (2019).
2017
Kernohan, K. D. et al. Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat 38, 611-614 (2017).