Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med (2018). doi:10.1038/s41436-018-0085-6
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet 49, 613-617 (2017).
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9, 26 (2017).
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet 95, 579-83 (2014).
NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 94, 303-9 (2014).