Publications
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 ;41(1):150-168.
. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 ;42(6):762-776.
. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023 ;25(8):100856.
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