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Osteoporosis identification among previously undiagnosed individuals with vertebral fractures.
Gold LS, Cody RF Jr, Tan WK, Marcum ZA, Meier EN, Sherman KJ, James KT, Griffith B, Avins AL, Kallmes DF, Suri P, Friedly JL, Heagerty PJ, Deyo RA, Luetmer PH, Rundell SD, Haynor DR, Jarvik JG. Gold LS, et al. Among authors: jarvik jg. Osteoporos Int. 2022 Jun 3. doi: 10.1007/s00198-022-06450-7. Online ahead of print. Osteoporos Int. 2022. PMID: 35654855
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. Shankar SP, et al. Genet Med. 2022 Apr 27:S1098-3600(22)00704-3. doi: 10.1016/j.gim.2022.03.014. Online ahead of print. Genet Med. 2022. PMID: 35482014
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network, Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Ferdinandusse S, et al. Genet Med. 2021 Dec;23(12):2467. doi: 10.1038/s41436-021-01189-8. Genet Med. 2021. PMID: 34667295 Free PMC article. No abstract available.
A Continuously Benchmarked and Crowdsourced Challenge for Rapid Development and Evaluation of Models to Predict COVID-19 Diagnosis and Hospitalization.
Yan Y, Schaffter T, Bergquist T, Yu T, Prosser J, Aydin Z, Jabeer A, Brugere I, Gao J, Chen G, Causey J, Yao Y, Bryson K, Long DR, Jarvik JG, Lee CI, Wilcox A, Guinney J, Mooney S; DREAM Challenge Consortium. Yan Y, et al. Among authors: jarvik jg. JAMA Netw Open. 2021 Oct 1;4(10):e2124946. doi: 10.1001/jamanetworkopen.2021.24946. JAMA Netw Open. 2021. PMID: 34633425 Free PMC article.
291 results