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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
O'Grady L, Schrier Vergano SA, Hoffman TL, Sarco D, Cherny S, Bryant E, Schultz-Rogers L, Chung WK, Sacharow S, Immken LL, Holder S, Blackwell RR, Buchanan C, Yusupov R, Lecoquierre F, Guerrot AM, Rodan L, de Vries BBA, Kamsteeg EJ, Santos Simarro F, Palomares-Bralo M, Brown N, Pais L, Ferrer A, Klee EW, Babovic-Vuksanovic D, Rhodes L, Person R, Begtrup A, Keller-Ramey J, Santiago-Sim T, Schnur RE, Sweetser DA, Gold NB. O'Grady L, et al. Am J Med Genet A. 2022 Sep;188(9):2750-2759. doi: 10.1002/ajmg.a.62772. Epub 2022 May 11. Am J Med Genet A. 2022. PMID: 35543142
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Stolerman ES, Francisco E, Stallworth JL, Jones JR, Monaghan KG, Keller-Ramey J, Person R, Wentzensen IM, McWalter K, Keren B, Heron B, Nava C, Heron D, Kim K, Burton B, Al-Musafri F, O'Grady L, Sahai I, Escobar LF, Meuwissen M, Reyniers E, Kooy F, Lacassie Y, Gunay-Aygun M, Schatz KS, Hochstenbach R, Zwijnenburg PJG, Waisfisz Q, van Slegtenhorst M, Mancini GMS, Louie RJ. Stolerman ES, et al. Am J Med Genet A. 2019 Jul;179(7):1276-1286. doi: 10.1002/ajmg.a.61173. Epub 2019 May 23. Am J Med Genet A. 2019. PMID: 31124279
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
Comparison of effects of simvastatin versus atorvastatin on high-density lipoprotein cholesterol and apolipoprotein A-I levels.
Kastelein JJ, Isaacsohn JL, Ose L, Hunninghake DB, Frohlich J, Davidson MH, Habib R, Dujovne CA, Crouse JR, Liu M, Melino MR, O'Grady L, Mercuri M, Mitchel YB. Kastelein JJ, et al. Am J Cardiol. 2000 Jul 15;86(2):221-3. doi: 10.1016/s0002-9149(00)00942-5. Am J Cardiol. 2000. PMID: 10913488 Clinical Trial. No abstract available.
Udder health outcomes in Irish herds participating in cellcheck dry cow consults.
Caballero-Villalobos J, Ryan EG, McGrath M, O'Grady L, McAloon CG, Graham DA, McCoy F. Caballero-Villalobos J, et al. Among authors: o grady l. J Dairy Sci. 2024 May 31:S0022-0302(24)00862-2. doi: 10.3168/jds.2024-24751. Online ahead of print. J Dairy Sci. 2024. PMID: 38825133 Free article.
Supporting GPs and people with hypertension to maximise medication use to control blood pressure: Protocol for a pilot cluster RCT of the MIAMI intervention.
Morrissey E, Murphy A, Murphy P, O'Grady L, Byrne M, Casey M, Dolan E, Duane S, Durand H, Gillespie P, Hayes P, Hobbins A, Hynes L, McEvoy JW, Newell J; MIAMI PPI group; Molloy G. Morrissey E, et al. Among authors: o grady l. HRB Open Res. 2023 Aug 21;6:6. doi: 10.12688/hrbopenres.13661.2. eCollection 2023. HRB Open Res. 2023. PMID: 38779427 Free PMC article.
160 results