Publications

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2021
Dyment, D. A. et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
2020
Morton, S. U. et al. Congenital Heart Defects Due to Missense Variants. Circ Genom Precis Med 13, e002843 (2020).
2019
Schmitz-Abe, K. et al. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet (2019). doi:10.1038/s41431-019-0401-x
2018
Vasilevsky, N. A. et al. Plain-language medical vocabulary for precision diagnosis. Nat Genet 50, 474-476 (2018).
2017
Reddy, H. M. et al. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet 62, 243-252 (2017).
2016
Brownstein, C. A. et al. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Am J Med Genet A 170A, 1165-73 (2016).
2015
Philippakis, A. A. et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).