Publications

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Author Title [ Year(Asc)]
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2019
Lee, A. J. et al. Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G. Neurol Genet 5, e315 (2019).
O'Donnell-Luria, A. H. et al. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet 104, 1210-1222 (2019).
2017
Cummings, B. B. et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).