Publications
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 ;49(4):527-536.
. Phenotypic expansion in - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 ;5(10):1277-1285.
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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 ;110(3):499-515.
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