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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet 96, 462-73 (2015).
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).
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Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing. Am J Med Genet A 164A, 2153-60 (2014).
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet 94, 734-44 (2014).
Attitudes of African Americans toward return of results from exome and whole genome sequencing. Am J Med Genet A 161A, 1064-72 (2013).
Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet 92, 621-6 (2013).
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