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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Bellen HJ, Tan QK. Goodman LD, et al. Among authors: jones m. Am J Hum Genet. 2021 Sep 2;108(9):1669-1691. doi: 10.1016/j.ajhg.2021.06.019. Epub 2021 Jul 26. Am J Hum Genet. 2021. PMID: 34314705 Free PMC article.
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Lewis H, Samanta D, Örsell JL, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Fernández-Jaén A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, Zarate YA. Lewis H, et al. Among authors: jones m. Pediatr Neurol. 2020 Nov;112:94-100. doi: 10.1016/j.pediatrneurol.2020.04.006. Epub 2020 Apr 13. Pediatr Neurol. 2020. PMID: 32446642
Resource stewardship and Choosing Wisely in a children's hospital.
Friedman JN, Whitney L, Jones M, Ostrow O. Friedman JN, et al. Among authors: jones m. Paediatr Child Health. 2022 Dec 16;28(3):151-157. doi: 10.1093/pch/pxac075. eCollection 2023 Jun. Paediatr Child Health. 2022. PMID: 37205139 Free PMC article.
Ninth Annual DC Public Health Case Challenge: Protective Community Environments and Their Contribution to Intimate Partner Violence Prevention: The Role of Youth.
Geller A, Baciu A, Anderson M, Abu-Hijlih M, Altaher N, Authelet K, Avelar B, Baran E, Brenner A, Chace A, Curley M, Faulkner R, Hoffman C, Holland J, Jhaveri U, Jones M, Kim HE, Krekorian C, LeBuhn H, Ly E, Mata E, Miloh R, Naumova A, Parsons A, Pappier G, Patriarca PN, Pierson B, Rafi R, Raghavan P, Rice C, Santacrose L, Sheehi K, Singh A, Smith B, Smith L, Tandy H. Geller A, et al. Among authors: jones m. NAM Perspect. 2023 Sep 6;2023. doi: 10.31478/202309a. eCollection 2023. NAM Perspect. 2023. PMID: 38812842 Free PMC article. Review. No abstract available.
Long COVID and cardiovascular disease: a prospective cohort study.
Lawson CA, Moss AJ, Arnold JR, Bagot C, Banerjee A, Berry C, Greenwood J, Hughes AD, Khunti K, Mills NL, Neubauer S, Raman B, Sattar N, Leavy OC, Richardson M, Elneima O, McAuley HJ, Shikotra A, Singapuri A, Sereno M, Saunders R, Harris V, Houchen-Wolloff L, Greening NJ, Harrison E, Docherty AB, Lone NI, Quint JK, Chalmers J, Ho LP, Horsley A, Marks M, Poinasamy K, Evans R, Wain LV, Brightling C, McCann GP; PHOSP-COVID Study Collaborative Group. Lawson CA, et al. Open Heart. 2024 May 27;11(1):e002662. doi: 10.1136/openhrt-2024-002662. Open Heart. 2024. PMID: 38802280 Free PMC article.
Pneumonia diagnosis performance in the emergency department: a mixed-methods study about clinicians' experiences and exploration of individual differences and response to diagnostic performance feedback.
Butler JM, Taft T, Taber P, Rutter E, Fix M, Baker A, Weir C, Nevers M, Classen D, Cosby K, Jones M, Chapman A, Jones BE. Butler JM, et al. Among authors: jones m. J Am Med Inform Assoc. 2024 May 25:ocae112. doi: 10.1093/jamia/ocae112. Online ahead of print. J Am Med Inform Assoc. 2024. PMID: 38796835
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