Publications

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2017
Tabor, H. K. et al. My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings. Genet Med 19, 467-475 (2017).
2016
Chong, J. X. et al. Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet Med 18, 788-95 (2016).
2015
Chong, J. X. et al. 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).
Chong, J. X. et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).
2014
Yu, J. - H., Harrell, T. M., Jamal, S. M., Tabor, H. K. & Bamshad, M. J. Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. Am J Hum Genet 95, 77-84 (2014).
Yu, J. - H., Crouch, J., Jamal, S. M., Bamshad, M. J. & Tabor, H. K. 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).
McMillin, M. J. et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet 94, 734-44 (2014).
2013
Yu, J. - H., Crouch, J., Jamal, S. M., Tabor, H. K. & Bamshad, M. J. Attitudes of African Americans toward return of results from exome and whole genome sequencing. Am J Med Genet A 161A, 1064-72 (2013).
Marneros, A. G. et al. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet 92, 621-6 (2013).
Jamal, S. M. et al. Practices and policies of clinical exome sequencing providers: analysis and implications. Am J Med Genet A 161A, 935-50 (2013).