Hsiao-Tuan Chao

Affiliations: 
Baylor College of Medicine, Houston, TX 
Google:
"Hsiao-Tuan Chao"
Mean distance: 13.89 (cluster 11)
 
SNBCP
Cross-listing: BCM Tree

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Publications

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Paul MS, Michener SL, Pan H, et al. (2024) A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. American Journal of Human Genetics
Paul MS, Michener SL, Pan H, et al. (2024) A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. American Journal of Human Genetics. 111: 96-118
Paul MS, Michener SL, Pan H, et al. (2023) Rare variants in cause delayed development, intellectual disability, autism, and epilepsy. Medrxiv : the Preprint Server For Health Sciences
Corriveau ML, Amaya SI, Koebel MC, et al. (2023) PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. American Journal of Medical Genetics. Part A
Paul MS, Duncan AR, Genetti CA, et al. (2023) Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. American Journal of Human Genetics. 110: 548
Paul MS, Duncan AR, Genetti CA, et al. (2022) Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. American Journal of Human Genetics
Keehan L, Haviland I, Gofin Y, et al. (2022) Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. American Journal of Medical Genetics. Part A
Thomas AX, Link N, Robak LA, et al. (2022) ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. Annals of Clinical and Translational Neurology
Deisseroth CA, Lerma VC, Magyar CL, et al. (2022) An integrated phenotypic and genotypic approach reveals a high-risk subtype association for EBF3 missense variants affecting the zinc finger domain. Annals of Neurology
Marcogliese PC, Deal SL, Andrews J, et al. (2022) Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Reports. 38: 110517
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