Publications
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. Mol Genet Genomic Med. 2019 ;7(3):e564.
. Complex mosaic structural variations in human fetal brains. Genome Res. 2020 ;30(12):1695-1704.
. Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease. Mov Disord. 2021 ;36(6):1456-1460.
. Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene. Commun Biol. 2022 ;5(1):670.
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Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.
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