Publications
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A 182, 2272-2283 (2020).
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 83, 1105-1124 (2018).
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science 366, 351-356 (2019).
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet 26, 2207-2217 (2017).