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A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Among authors: joseph t. Nature. 2024 May 20. doi: 10.1038/s41586-024-07556-0. Online ahead of print. Nature. 2024. PMID: 38768635
Perivascular NOTCH3+ stem cells drive meningioma tumorigenesis and resistance to radiotherapy.
Choudhury A, Cady MA, Lucas CG, Najem H, Phillips JJ, Palikuqi B, Zakimi N, Joseph T, Birrueta JO, Chen WC, Oberheim Bush NA, Hervey-Jumper SL, Klein OD, Toedebusch CM, Horbinski CM, Magill ST, Bhaduri A, Perry A, Dickinson PJ, Heimberger AB, Ashworth A, Crouch EE, Raleigh DR. Choudhury A, et al. Among authors: joseph t. Cancer Discov. 2024 May 14. doi: 10.1158/2159-8290.CD-23-1459. Online ahead of print. Cancer Discov. 2024. PMID: 38742767
The mitochondrial orf117Sha gene desynchronizes pollen development and causes pollen abortion in the Arabidopsis Sha CMS.
Noémie D, Clément B, Philippe A, Delphine C, Dennis B, Taillefer Clémence G, Thomas N, Anthony R, Matthieu S, Joseph T, Daniel V, Christine C, Shin-Ichi A, Markus S, Françoise B. Noémie D, et al. Among authors: joseph t. J Exp Bot. 2024 May 11:erae214. doi: 10.1093/jxb/erae214. Online ahead of print. J Exp Bot. 2024. PMID: 38733289
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL, O'Leary MC, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson MW, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: joseph t. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
753 results