Publications
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 ;10(3):e1004258.
. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 ;312(18):1870-9.
. Phenotypic expansion in - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 ;5(10):1277-1285.
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