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Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.
Xicota L, Cosentino S, Vardarajan B, Mayeux R, Perls TT, Andersen SL, Zmuda JM, Thyagarajan B, Yashin A, Wojczynski MK, Krinsky-McHale S, Handen BL, Christian BT, Head E, Mapstone ME, Schupf N, Lee JH, Barral S; Long‐Life Family Study (LLFS); Alzheimer's Disease Genetic Consortium (ADGC); Alzheimer's Biomarkers Consortium‐Down Syndrome (ABC‐DS). Xicota L, et al. Alzheimers Dement. 2024 Apr;20(4):2670-2679. doi: 10.1002/alz.13718. Epub 2024 Feb 21. Alzheimers Dement. 2024. PMID: 38380866 Free PMC article.
Evaluation of crowdsourced mortality prediction models as a framework for assessing artificial intelligence in medicine.
Bergquist T, Schaffter T, Yan Y, Yu T, Prosser J, Gao J, Chen G, Charzewski Ł, Nawalany Z, Brugere I, Retkute R, Prusokas A, Prusokas A, Choi Y, Lee S, Choe J, Lee I, Kim S, Kang J, Mooney SD, Guinney J; Patient Mortality Prediction DREAM Challenge Consortium. Bergquist T, et al. Among authors: mooney sd. J Am Med Inform Assoc. 2023 Dec 22;31(1):35-44. doi: 10.1093/jamia/ocad159. J Am Med Inform Assoc. 2023. PMID: 37604111
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Aspromonte MC, Conte AD, Zhu S, Tan W, Shen Y, Zhang Y, Li Q, Wang MH, Babbi G, Bovo S, Martelli PL, Casadio R, Althagafi A, Toonsi S, Kulmanov M, Hoehndorf R, Katsonis P, Williams A, Lichtarge O, Xian S, Surento W, Pejaver V, Mooney SD, Sunderam U, Srinivasan R, Murgia A, Piovesan D, Tosatto SCE, Leonardi E. Aspromonte MC, et al. Among authors: mooney sd. Res Sq [Preprint]. 2023 Aug 2:rs.3.rs-3209168. doi: 10.21203/rs.3.rs-3209168/v1. Res Sq. 2023. PMID: 37577579 Free PMC article. Preprint.
Evaluating construct validity of computable acute respiratory distress syndrome definitions in adults hospitalized with COVID-19: an electronic health records based approach.
Sathe NA, Xian S, Mabrey FL, Crosslin DR, Mooney SD, Morrell ED, Lybarger K, Yetisgen M, Jarvik GP, Bhatraju PK, Wurfel MM. Sathe NA, et al. Among authors: mooney sd. BMC Pulm Med. 2023 Aug 9;23(1):292. doi: 10.1186/s12890-023-02560-y. BMC Pulm Med. 2023. PMID: 37559024 Free PMC article.
An atlas of healthy and injured cell states and niches in the human kidney.
Lake BB, Menon R, Winfree S, Hu Q, Melo Ferreira R, Kalhor K, Barwinska D, Otto EA, Ferkowicz M, Diep D, Plongthongkum N, Knoten A, Urata S, Mariani LH, Naik AS, Eddy S, Zhang B, Wu Y, Salamon D, Williams JC, Wang X, Balderrama KS, Hoover PJ, Murray E, Marshall JL, Noel T, Vijayan A, Hartman A, Chen F, Waikar SS, Rosas SE, Wilson FP, Palevsky PM, Kiryluk K, Sedor JR, Toto RD, Parikh CR, Kim EH, Satija R, Greka A, Macosko EZ, Kharchenko PV, Gaut JP, Hodgin JB; KPMP Consortium; Eadon MT, Dagher PC, El-Achkar TM, Zhang K, Kretzler M, Jain S. Lake BB, et al. Nature. 2023 Jul;619(7970):585-594. doi: 10.1038/s41586-023-05769-3. Epub 2023 Jul 19. Nature. 2023. PMID: 37468583 Free PMC article.
Proteomic Analysis of Huntington's Disease Medium Spiny Neurons Identifies Alterations in Lipid Droplets.
Tshilenge KT, Aguirre CG, Bons J, Gerencser AA, Basisty N, Song S, Rose J, Lopez-Ramirez A, Naphade S, Loureiro A, Battistoni E, Milani M, Wehrfritz C, Holtz A, Hetz C, Mooney SD, Schilling B, Ellerby LM. Tshilenge KT, et al. Among authors: mooney sd. Mol Cell Proteomics. 2023 May;22(5):100534. doi: 10.1016/j.mcpro.2023.100534. Epub 2023 Mar 22. Mol Cell Proteomics. 2023. PMID: 36958627 Free PMC article.
Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K; eMERGE Con… See abstract for full author list ➔ Linder JE, et al. Among authors: mooney sd. Genet Med. 2023 Apr;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6. Genet Med. 2023. PMID: 36621880 Free PMC article.
131 results