Publications
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Filters: First Letter Of Title is M and Author is James R Lupski [Clear All Filters]
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 ;89(4):828-833.
. missense mutations in Xia-Gibbs syndrome. HGG Adv. 2021 ;2(4).
. Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Hum Mutat. 2019 ;.
. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 ;104(3):530-541.
. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Dev Cell. 2019 ;51(6):713-729.e6.
. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 ;14(8):e1007504.
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