Publications
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol 137, 501-519 (2019).
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).
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol 138, 1013-1031 (2019).
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve 59, 357-362 (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).
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet 102, 858-873 (2018).