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

Year Number of Results
1963 6
1964 1
1965 2
1967 1
1968 2
1970 1
1971 2
1972 2
1973 6
1974 2
1975 3
1976 1
1977 2
1978 2
1979 2
1980 3
1981 2
1982 4
1983 2
1984 2
1985 8
1986 4
1987 6
1988 5
1989 3
1990 6
1991 1
1992 4
1993 15
1994 9
1995 10
1996 8
1997 3
1998 9
1999 5
2000 13
2001 11
2002 18
2003 19
2004 15
2005 17
2006 34
2007 22
2008 24
2009 21
2010 26
2011 35
2012 37
2013 50
2014 55
2015 37
2016 38
2017 50
2018 43
2019 63
2020 82
2021 80
2022 75
2023 76
2024 99
2025 13

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1,079 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.
Tumor-derived GDF-15 blocks LFA-1 dependent T cell recruitment and suppresses responses to anti-PD-1 treatment.
Haake M, Haack B, Schäfer T, Harter PN, Mattavelli G, Eiring P, Vashist N, Wedekink F, Genssler S, Fischer B, Dahlhoff J, Mokhtari F, Kuzkina A, Welters MJP, Benz TM, Sorger L, Thiemann V, Almanzar G, Selle M, Thein K, Späth J, Gonzalez MC, Reitinger C, Ipsen-Escobedo A, Wistuba-Hamprecht K, Eichler K, Filipski K, Zeiner PS, Beschorner R, Goedemans R, Gogolla FH, Hackl H, Rooswinkel RW, Thiem A, Roche PR, Joshi H, Pühringer D, Wöckel A, Diessner JE, Rüdiger M, Leo E, Cheng PF, Levesque MP, Goebeler M, Sauer M, Nimmerjahn F, Schuberth-Wagner C, von Felten S, Mittelbronn M, Mehling M, Beilhack A, van der Burg SH, Riedel A, Weide B, Dummer R, Wischhusen J. Haake M, et al. Among authors: joshi h. Nat Commun. 2023 Jul 20;14(1):4253. doi: 10.1038/s41467-023-39817-3. Nat Commun. 2023. PMID: 37474523 Free PMC article.
Harlequin Syndrome.
Joshi H, Packiasabapathy S. Joshi H, et al. 2023 May 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. 2023 May 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 35593814 Free Books & Documents.
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.
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Larsen ISB, Povolo L, Zhou L, Tian W, Mygind KJ, Hintze J, Jiang C, Hartill V, Prescott K, Johnson CA, Mullegama SV, McConkie-Rosell A, McDonald M, Hansen L, Vakhrushev SY, Schjoldager KT, Clausen H, Worzfeld T, Joshi HJ, Halim A. Larsen ISB, et al. Among authors: joshi hj. Proc Natl Acad Sci U S A. 2023 May 23;120(21):e2302584120. doi: 10.1073/pnas.2302584120. Epub 2023 May 15. Proc Natl Acad Sci U S A. 2023. PMID: 37186866 Free PMC article.
Ultrawide-field OCT in Gyrate Atrophy.
Kaur I, Bhayana AA, Joshi HK. Kaur I, et al. Among authors: joshi hk. Ophthalmol Retina. 2022 Oct;6(10):956. doi: 10.1016/j.oret.2022.07.003. Epub 2022 Aug 21. Ophthalmol Retina. 2022. PMID: 36002366 No abstract available.
Deformed mandibular posterior border.
Bansal N, Chaudhary Z, Sharma P, Augustine J, Dar JI, Joshi H. Bansal N, et al. Among authors: joshi h. Oral Surg Oral Med Oral Pathol Oral Radiol. 2024 Dec;138(6):678-685. doi: 10.1016/j.oooo.2024.08.003. Epub 2024 Aug 14. Oral Surg Oral Med Oral Pathol Oral Radiol. 2024. PMID: 39191634 No abstract available.
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
Placing context in longitudinal research.
Joshi H. Joshi H. Longit Life Course Stud. 2022 Dec 8;14(1):6-21. doi: 10.1332/175795921X16682554193545. Longit Life Course Stud. 2022. PMID: 36722296 Review.
1,079 results