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Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats. J Mol Biol 429, 435-445 (2017).
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet 25, 2331-2341 (2016).
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. Am J Hum Genet 99, 1005-1014 (2016).
Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 23, 1207-15 (2015).
Collapsed haplotype pattern method for linkage analysis of next-generation sequence data. Eur J Hum Genet 23, 1739-43 (2015).
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet 95, 579-83 (2014).
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15, 45-54 (2013).