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Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
J Hum Genet. 2019 Jun;64(6):561-572. doi: 10.1038/s10038-019-0585-5. Epub 2019 Mar 11.
J Hum Genet. 2019.
PMID: 30858506
A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.
Peterson L, Siemon A, Olewiler L, McBride KL, Allain DC.
Peterson L, et al. Among authors: olewiler l.
J Genet Couns. 2022 Feb;31(1):252-260. doi: 10.1002/jgc4.1480. Epub 2021 Jul 15.
J Genet Couns. 2022.
PMID: 34265137
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Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen JP, Garber KB, Perszyk R, Khayat CT, Kell SA, Kaneko M, Quindipan C, Saitta S, Ladda RL, Hewson S, Inbar-Feigenberg M, Prasad C, Prasad AN, Olewiler L, Mu W, Rosenthal LS, Scala M, Striano P, Zara F, McCullock TW, Jauss RT, Lemke JR, MacLean DM, Zhu C, Yuan H, Myers SJ, Traynelis SF.
Allen JP, et al. Among authors: olewiler l.
Hum Mol Genet. 2024 Feb 1;33(4):355-373. doi: 10.1093/hmg/ddad188.
Hum Mol Genet. 2024.
PMID: 37944084
Free PMC article.
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