Stephanie A Getz
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Explore the profile of Stephanie A Getz including associated specialties, affiliations and a list of published articles.
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7
Citations
117
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Recent Articles
1.
DeSpenza Jr T, Kiziltug E, Allington G, Barson D, McGee S, OConnor D, et al.
Nat Neurosci
. 2025 Feb;
28(3):536-557.
PMID: 39994410
Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (ventriculomegaly) is a defining feature of congenital hydrocephalus (CH) and an under-recognized concomitant of autism. Here, we show that de novo mutations...
2.
Tariq K, Cullen E, Getz S, Conching A, Goyette A, Prina M, et al.
Cell Rep
. 2022 Nov;
41(5):111574.
PMID: 36323257
Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a negative regulator of AKT/mTOR signaling pathway. Mutations in PTEN are found in patients with autism, epilepsy, or macrocephaly. In...
3.
Getz S, Tariq K, Marchand D, Dickson C, Howe Vi J, Skelton P, et al.
J Neurosci
. 2022 Feb;
42(10):1945-1957.
PMID: 35101965
Phosphatase and tensin homolog (PTEN) is a major negative regulator of the phosphatidylinositol-3-kinase (PI3K)/Akt/mechanistic target of rapamycin (mTOR) pathway. Loss-of-function mutations in have been found in a subset of patients...
4.
Zhang L, Getz S, Bordey A
Front Bioeng Biotechnol
. 2022 Jan;
9:814638.
PMID: 35096799
Precise regulation of gene expression during development in cortical neurons is essential for the establishment and maintenance of neuronal connectivity and higher-order cognition. Dual in utero electroporation provides a precise...
5.
Hsieh L, Wen J, Nguyen L, Zhang L, Getz S, Torres-Reveron J, et al.
Sci Transl Med
. 2020 Nov;
12(570).
PMID: 33208499
The causative link between focal cortical malformations (FCMs) and epilepsy is well accepted, especially among patients with focal cortical dysplasia type II (FCDII) and tuberous sclerosis complex (TSC). However, the...
6.
Fricano-Kugler C, Getz S, Williams M, Zurawel A, DeSpenza Jr T, Frazel P, et al.
Biol Psychiatry
. 2018 Jan;
84(4):265-277.
PMID: 29373119
Background: Phosphatase and tensin homolog (PTEN) negatively regulates downstream protein kinase B signaling, resulting in decreased cellular growth and proliferation. PTEN is mutated in a subset of children with autism...
7.
Williams M, Fricano-Kugler C, Getz S, Skelton P, Lee J, Rizzuto C, et al.
Sci Rep
. 2016 May;
6:25611.
PMID: 27161796
Retroviruses expressing a fluorescent protein, Cas9, and a small guide RNA are used to mimic nonsense PTEN mutations from autism patients in developing mouse neurons. We compare the cellular phenotype...
8.
Getz S, DeSpenza Jr T, Li M, Luikart B
Neurobiol Dis
. 2016 Mar;
93:12-20.
PMID: 26992888
Unlabelled: Phosphatase and tensin homolog (PTEN) is a major negative regulator of the Akt/mammalian target of rapamycin (MTOR) pathway. Mutations in PTEN have been found in a subset of individuals...