Vanesa Lerma

2020-

Hsiao-Tuan Chao	research assistant	2020-2022	Baylor College of Medicine
(Clinical Research Coordinator)

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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. 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
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