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Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009.
Am J Hum Genet. 2023.
PMID: 37541186
Free PMC article.
Review.
Preliminary Results of an Interdisciplinary Behavioral Program to Improve Access to Preventative Dental Care for Adults With Intellectual and Developmental Disabilities.
Berens JC, Tsami L, Lerman DC, Matteucci M, Fray DF, Warner BF, Keehan LA, Staggers KA, Peacock C.
Berens JC, et al. Among authors: keehan la.
Intellect Dev Disabil. 2022 Dec 1;60(6):504-519. doi: 10.1352/1934-9556-60.6.504.
Intellect Dev Disabil. 2022.
PMID: 36454615
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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS; Undiagnosed Diseases Network; Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC.
Keehan L, et al.
Am J Med Genet A. 2021 Aug;185(8):2315-2324. doi: 10.1002/ajmg.a.62232. Epub 2021 May 5.
Am J Med Genet A. 2021.
PMID: 33949769
Free PMC article.
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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, Samaco RC, Elsea S, Thorpe E, Kesari A, Perry D, Lee B, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC; Undiagnosed Diseases Network.
Keehan L, et al.
Am J Med Genet A. 2022 Dec;188(12):3516-3524. doi: 10.1002/ajmg.a.62940. Epub 2022 Aug 7.
Am J Med Genet A. 2022.
PMID: 35934918
Free PMC article.
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The Rac-GEF Tiam1 Promotes Dendrite and Synapse Stabilization of Dentate Granule Cells and Restricts Hippocampal-Dependent Memory Functions.
Cheng J, Scala F, Blanco FA, Niu S, Firozi K, Keehan L, Mulherkar S, Froudarakis E, Li L, Duman JG, Jiang X, Tolias KF.
Cheng J, et al. Among authors: keehan l.
J Neurosci. 2021 Feb 10;41(6):1191-1206. doi: 10.1523/JNEUROSCI.3271-17.2020. Epub 2020 Dec 16.
J Neurosci. 2021.
PMID: 33328293
Free PMC article.
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Small Retinoprotective Peptides Reveal a Receptor-binding Region on Pigment Epithelium-derived Factor.
Kenealey J, Subramanian P, Comitato A, Bullock J, Keehan L, Polato F, Hoover D, Marigo V, Becerra SP.
Kenealey J, et al. Among authors: keehan l.
J Biol Chem. 2015 Oct 16;290(42):25241-53. doi: 10.1074/jbc.M115.645846. Epub 2015 Aug 24.
J Biol Chem. 2015.
PMID: 26304116
Free PMC article.
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