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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
van Karnebeek CDM, O'Donnell-Luria A, Baynam G, Baudot A, Groza T, Jans JJM, Lassmann T, Letinturier MCV, Montgomery SB, Robinson PN, Sansen S, Mehrian-Shai R, Steward C, Kosaki K, Durao P, Sadikovic B. van Karnebeek CDM, et al. Among authors: baudot a. Orphanet J Rare Dis. 2024 Sep 27;19(1):357. doi: 10.1186/s13023-024-03361-0. Orphanet J Rare Dis. 2024. PMID: 39334316 Free PMC article. Review.
PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.
Ogloblinsky MC, Bocher O, Aloui C, Leutenegger AL, Ozisik O, Baudot A, Tournier-Lasserve E, Castillo-Madeen H, Lewinsohn D, Conrad DF, Génin E, Marenne G. Ogloblinsky MC, et al. Among authors: baudot a. Genet Epidemiol. 2024 Sep 24. doi: 10.1002/gepi.22593. Online ahead of print. Genet Epidemiol. 2024. PMID: 39318036
Integrative analysis of multi-omics data reveals importance of collagen and the PI3K AKT signalling pathway in CAKUT.
Bayjanov JR, Doornbos C, Ozisik O, Shin W, Queralt-Rosinach N, Wijnbergen D, Saulnier-Blache JS, Schanstra JP, Buffin-Meyer B, Klein J, Fernández JM, Kaliyaperumal R, Baudot A, 't Hoen PAC, Ehrhart F. Bayjanov JR, et al. Among authors: baudot a. Sci Rep. 2024 Sep 5;14(1):20731. doi: 10.1038/s41598-024-71721-8. Sci Rep. 2024. PMID: 39237660 Free PMC article.
Current and future directions in network biology.
Zitnik M, Li MM, Wells A, Glass K, Morselli Gysi D, Krishnan A, Murali TM, Radivojac P, Roy S, Baudot A, Bozdag S, Chen DZ, Cowen L, Devkota K, Gitter A, Gosline SJC, Gu P, Guzzi PH, Huang H, Jiang M, Kesimoglu ZN, Koyuturk M, Ma J, Pico AR, Pržulj N, Przytycka TM, Raphael BJ, Ritz A, Sharan R, Shen Y, Singh M, Slonim DK, Tong H, Yang XH, Yoon BJ, Yu H, Milenković T. Zitnik M, et al. Among authors: baudot a. Bioinform Adv. 2024 Aug 14;4(1):vbae099. doi: 10.1093/bioadv/vbae099. eCollection 2024. Bioinform Adv. 2024. PMID: 39143982 Free PMC article.
107 results