Publications

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Author Title [ Year(Asc)]
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2019
Patak, J. et al. MAGEL2-related disorders: A study and case series. Clin Genet 96, 493-505 (2019).
2016
Ma, L. et al. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet 135, 1399-1409 (2016).
2014
Yang, Y. et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870-9 (2014).