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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2007 1
2009 1
2012 2
2013 2
2014 8
2015 6
2016 4
2017 11
2018 4
2019 12
2020 18
2021 21
2022 21
2023 19
2024 13

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127 results

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Page 1
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: joshi h. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium; Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Cummings BB, et al. Among authors: joshi h. Sci Transl Med. 2017 Apr 19;9(386):eaal5209. doi: 10.1126/scitranslmed.aal5209. Sci Transl Med. 2017. PMID: 28424332 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: joshi h. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Chiral Systems Made from DNA.
Winogradoff D, Li PY, Joshi H, Quednau L, Maffeo C, Aksimentiev A. Winogradoff D, et al. Among authors: joshi h. Adv Sci (Weinh). 2021 Jan 21;8(5):2003113. doi: 10.1002/advs.202003113. eCollection 2021 Mar. Adv Sci (Weinh). 2021. PMID: 33717850 Free PMC article. Review.
Sulfur-Containing Foldamer-Based Artificial Lithium Channels.
Shen J, R D, Li Z, Oh H, Behera H, Joshi H, Kumar M, Aksimentiev A, Zeng H. Shen J, et al. Among authors: joshi h. Angew Chem Int Ed Engl. 2023 Sep 25;62(39):e202305623. doi: 10.1002/anie.202305623. Epub 2023 Aug 17. Angew Chem Int Ed Engl. 2023. PMID: 37539755
Multiple myeloma, race, insurance and treatment.
Joshi H, Lin S, Fei K, Renteria AS, Jacobs H, Mazumdar M, Jagannath S, Bickell NA. Joshi H, et al. Cancer Epidemiol. 2021 Aug;73:101974. doi: 10.1016/j.canep.2021.101974. Epub 2021 Jul 6. Cancer Epidemiol. 2021. PMID: 34243048 Free PMC article.
Controlling aggregation of cholesterol-modified DNA nanostructures.
Ohmann A, Göpfrich K, Joshi H, Thompson RF, Sobota D, Ranson NA, Aksimentiev A, Keyser UF. Ohmann A, et al. Among authors: joshi h. Nucleic Acids Res. 2019 Dec 2;47(21):11441-11451. doi: 10.1093/nar/gkz914. Nucleic Acids Res. 2019. PMID: 31642494 Free PMC article.
DNA Translocation through Hybrid Bilayer Nanopores.
Balasubramanian R, Pal S, Joshi H, Rao A, Naik A, Varma M, Chakraborty B, Maiti PK. Balasubramanian R, et al. Among authors: joshi h. J Phys Chem C Nanomater Interfaces. 2019 May 9;123(18):11908-11916. doi: 10.1021/acs.jpcc.9b00399. Epub 2019 Apr 23. J Phys Chem C Nanomater Interfaces. 2019. PMID: 31316684 Free PMC article.
127 results