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

Year Number of Results
1957 1
1978 1
1982 1
1983 1
1986 2
1987 1
1988 2
1993 1
1994 2
1995 3
1996 3
1997 8
1998 6
1999 5
2000 3
2001 2
2002 1
2003 3
2004 4
2005 3
2007 1
2008 6
2009 7
2010 9
2011 5
2012 13
2013 11
2014 18
2015 18
2016 16
2017 15
2018 11
2019 16
2020 24
2021 12
2022 15
2023 19
2024 15

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251 results

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Page 1
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network; Matsumoto N, Inazawa J, Walkiewicz M, Õunap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. Beck DB, et al. Among authors: d souza p. Sci Adv. 2021 Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116. Print 2021 Jan. Sci Adv. 2021. PMID: 33523931 Free PMC article.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: d souza p. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. Update in: Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. PMID: 38645094 Free PMC article. Updated. Preprint.
The quest for vaccine-induced immune correlates of protection against tuberculosis.
Nemes E, Fiore-Gartland A, Boggiano C, Coccia M, D'Souza P, Gilbert P, Ginsberg A, Hyrien O, Laddy D, Makar K, McElrath MJ, Ramachandra L, Schmidt AC, Shororbani S, Sunshine J, Tomaras G, Yu WH, Scriba TJ, Frahm N; BCG Correlates PIs Study Team, M72 Correlates PIs Study Team. Nemes E, et al. Among authors: d souza p. Vaccine Insights. 2022 Jul;1(3):165-181. doi: 10.18609/vac/2022.027. Epub 2022 Jul 29. Vaccine Insights. 2022. PMID: 37091190 Free PMC article.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche … See abstract for full author list ➔ Chen Y, et al. Among authors: d souza p. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
N-[(4-Chloro-phen-yl)sulfon-yl]acetamide.
Fun HK, Chia TS, Jyothi K, Hegde P, D'Souza PR. Fun HK, et al. Among authors: d souza pr. Acta Crystallogr Sect E Struct Rep Online. 2012 Sep 1;68(Pt 9):o2626. doi: 10.1107/S1600536812033764. Epub 2012 Aug 4. Acta Crystallogr Sect E Struct Rep Online. 2012. PMID: 22969527 Free PMC article.
N-[(4-Methyl-phen-yl)sulfon-yl]acetamide.
Fun HK, Chia TS, Hegde P, Jyothi K, D'Souza PR. Fun HK, et al. Among authors: d souza pr. Acta Crystallogr Sect E Struct Rep Online. 2012 Jul 1;68(Pt 7):o2025. doi: 10.1107/S1600536812024658. Epub 2012 Jun 13. Acta Crystallogr Sect E Struct Rep Online. 2012. PMID: 22807851 Free PMC article.
Orbital-tuberculosis.
D'Souza P, Garg R, Dhaliwal RS, Jain R, Jain M. D'Souza P, et al. Int Ophthalmol. 1994;18(3):149-52. doi: 10.1007/BF00915963. Int Ophthalmol. 1994. PMID: 7852020
251 results