Publications
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 ;179(7):1376-1382.
. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 ;182(1):38-52.
. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 ;145(5):e36-e40.
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