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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: tiwari n. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL, O'Leary M, 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 M, 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: tiwari n. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212. medRxiv. 2023. Update in: Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w PMID: 37577678 Free PMC article. Updated. Preprint.
Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene.
Jepsen WM, Fazenbaker A, Ramsey K, Bonfitto A, Naymik M, Turner B, Sloan J, Tiwari N, Bernes SM, Neilson DE, Sanchez-Castillo M, Huentelman MJ, Narayanan V. Jepsen WM, et al. Among authors: tiwari n. Int J Mol Sci. 2024 Nov 6;25(22):11922. doi: 10.3390/ijms252211922. Int J Mol Sci. 2024. PMID: 39595988 Free PMC article.
Exploring the cytotoxic and antioxidant properties of lanthanide-doped ZnO nanoparticles: a study with machine learning interpretation.
Mejia-Mendez JL, Reza-Zaldívar EE, Sanchez-Martinez A, Ceballos-Sanchez O, Navarro-López DE, Marcelo Lozano L, Armendariz-Borunda J, Tiwari N, Jacobo-Velázquez DA, Sanchez-Ante G, López-Mena ER. Mejia-Mendez JL, et al. Among authors: tiwari n. J Nanobiotechnology. 2024 Nov 10;22(1):687. doi: 10.1186/s12951-024-02957-9. J Nanobiotechnology. 2024. PMID: 39523303 Free PMC article.
"Kiss of death" an Unusual case Encountered in ENT Emergency.
Gargava A, Tiwari N, Nigam M, Raghuwanshi SK. Gargava A, et al. Among authors: tiwari n. Indian J Otolaryngol Head Neck Surg. 2024 Oct;76(5):4866-4868. doi: 10.1007/s12070-024-04923-1. Epub 2024 Jul 30. Indian J Otolaryngol Head Neck Surg. 2024. PMID: 39376407 No abstract available.
471 results