Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet 29, 816-826 (2021).
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med 22, 1478-1488 (2020).