Publications
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet 98, 579-587 (2016).
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. Am J Hum Genet 105, 151-165 (2019).
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Mol Genet Genomic Med 8, e1508 (2020).
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 52, 1046-1056 (2020).