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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Mortality with concurrent treatment with gabapentin and opioids among people with spine diagnoses in the U.S. Medicare population: a propensity-matched cohort study.
Gold LS, Heagerty PJ, Hansen RN, Friedly JL, Johnston SK, Deyo RA, Curatolo M, Turner JA, Rundell SD, Wysham K, Jarvik JG, Suri P. Gold LS, et al. medRxiv [Preprint]. 2024 Apr 29:2024.04.26.24306460. doi: 10.1101/2024.04.26.24306460. medRxiv. 2024. PMID: 38746254 Free PMC article. Preprint.
A prospective multicenter feasibility study of a miniaturized implantable continuous flow ventricular assist device in smaller children with heart failure.
Almond CS, Davies R, Adachi I, Richmond M, Law S, Tunuguntla H, Mao C, Shaw F, Lantz J, Wearden PD, Jordan LC, Ichord RN, Burns K, Zak V, Magnavita A, Gonzales S, Conway J, Jeewa A, Freemon D', Stylianou M, Sleeper L, Dykes JC, Ma M, Fynn-Thompson F, Lorts A, Morales D, Vanderpluym C, Dasse K, Patricia Massicotte M, Jaquiss R, Mahle WT. Almond CS, et al. J Heart Lung Transplant. 2024 Jun;43(6):889-900. doi: 10.1016/j.healun.2024.02.003. Epub 2024 May 7. J Heart Lung Transplant. 2024. PMID: 38713124
Smaller children supported with LVADs typically remain hospitalized for months awaiting heart transplant-a major burden for families and a challenge for hospitals. We describe the initial outcomes of the Jarvik 2015, a miniaturized implantable continuous flow LVAD, in the …
Smaller children supported with LVADs typically remain hospitalized for months awaiting heart transplant-a major burden for families and a c …
Enhancing Genetic Association Power in Endometriosis through Unsupervised Clustering of Clinical Subtypes Identified from Electronic Health Records.
Guare L, Humphrey LA, Rush M, Pollie M, Luo Y, Weng C, Wei WQ, Kottyan L, Jarvik G, Elhadad N; Penn Medicine Biobank; Regeneron Genetics Center; Zondervan K, Missmer S, Vujkovic M, Velez-Edwards D, Senapati S, Setia-Verma S. Guare L, et al. medRxiv [Preprint]. 2024 Apr 22:2024.04.22.24306092. doi: 10.1101/2024.04.22.24306092. medRxiv. 2024. PMID: 38712122 Free PMC article. Preprint.
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
Lewis ACF, Chisholm RL, Connolly JJ, Esplin ED, Glessner J, Gordon A, Green RC, Hakonarson H, Harr M, Holm IA, Jarvik GP, Karlson E, Kenny EE, Kottyan L, Lennon N, Linder JE, Luo Y, Martin LJ, Perez E, Puckelwartz MJ, Rasmussen-Torvik LJ, Sabatello M, Sharp RR, Smoller JW, Sterling R, Terek S, Wei WQ, Fullerton SM. Lewis ACF, et al. Am J Hum Genet. 2024 Apr 29:S0002-9297(24)00120-4. doi: 10.1016/j.ajhg.2024.04.005. Online ahead of print. Am J Hum Genet. 2024. PMID: 38688278 Review.
Clinical associations with a polygenic predisposition to benign lower white blood cell counts.
Mosley JD, Shelley JP, Dickson AL, Zanussi J, Daniel LL, Zheng NS, Bastarache L, Wei WQ, Shi M, Jarvik GP, Rosenthal EA, Khan A, Sherafati A, Kullo IJ, Walunas TL, Glessner J, Hakonarson H, Cox NJ, Roden DM, Frangakis SG, Vanderwerff B, Stein CM, Van Driest SL, Borinstein SC, Shu XO, Zawistowski M, Chung CP, Kawai VK. Mosley JD, et al. Nat Commun. 2024 Apr 22;15(1):3384. doi: 10.1038/s41467-024-47804-5. Nat Commun. 2024. PMID: 38649760 Free PMC article.
Risk factors affecting polygenic score performance across diverse cohorts.
Hui D, Dudek S, Kiryluk K, Walunas TL, Kullo IJ, Wei WQ, Tiwari HK, Peterson JF, Chung WK, Davis B, Khan A, Kottyan L, Limdi NA, Feng Q, Puckelwartz MJ, Weng C, Smith JL, Karlson EW; Regeneron Genetics Center; Jarvik GP, Ritchie MD. Hui D, et al. medRxiv [Preprint]. 2024 Apr 10:2023.05.10.23289777. doi: 10.1101/2023.05.10.23289777. medRxiv. 2024. PMID: 38645167 Free PMC article. Preprint.
Genetic factors for ILD-the path of precision medicine.
Raghu G, Torres JM, Bennett RL. Raghu G, et al. Lancet Respir Med. 2024 May;12(5):350-352. doi: 10.1016/S2213-2600(24)00071-7. Epub 2024 Mar 20. Lancet Respir Med. 2024. PMID: 38521082 No abstract available.
1,632 results