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Page 1
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.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE; ClinGen Sequence Variant Interpretation Working Group. Pejaver V, et al. Among authors: mooney sd. Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413997 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 36775387
The status of digital pathology and associated infrastructure within Alzheimer's Disease Centers.
Scalco R, Hamsafar Y, White CL, Schneider JA, Reichard RR, Prokop S, Perrin RJ, Nelson PT, Mooney S, Lieberman AP, Kukull WA, Kofler J, Keene CD, Kapasi A, Irwin DJ, Gutman DA, Flanagan ME, Crary JF, Chan KC, Murray ME, Dugger BN. Scalco R, et al. J Neuropathol Exp Neurol. 2023 Feb 21;82(3):202-211. doi: 10.1093/jnen/nlac127. J Neuropathol Exp Neurol. 2023. PMID: 36692179 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
Multi-Scalar Data Integration Links Glomerular Angiopoietin-Tie Signaling Pathway Activation With Progression of Diabetic Kidney Disease.
Liu J, Nair V, Zhao YY, Chang DY, Limonte C, Bansal N, Fermin D, Eichinger F, Tanner EC, Bellovich KA, Steigerwalt S, Bhat Z, Hawkins JJ, Subramanian L, Rosas SE, Sedor JR, Vasquez MA, Waikar SS, Bitzer M, Pennathur S, Brosius FC, De Boer I, Chen M, Kretzler M, Ju W; Kidney Precision Medicine Project and Michigan Translational Core C-PROBE Investigator Group; Kidney Precision Medicine Project and Michigan Translational Core C-PROBE Investigator Group. Liu J, et al. Diabetes. 2022 Dec 1;71(12):2664-2676. doi: 10.2337/db22-0169. Diabetes. 2022. PMID: 36331122 Free PMC article.
134 results