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

Year Number of Results
1976 1
2001 2
2003 2
2004 3
2005 2
2006 3
2007 2
2008 1
2009 2
2010 1
2011 3
2012 5
2013 8
2014 11
2015 13
2016 10
2017 7
2018 8
2019 7
2020 6
2021 10
2022 3
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100 results
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Page 1
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M. Radio FC, et al. Among authors: sawyer sl. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Among authors: sawyer sl. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.
Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape.
Lu C, Jain SU, Hoelper D, Bechet D, Molden RC, Ran L, Murphy D, Venneti S, Hameed M, Pawel BR, Wunder JS, Dickson BC, Lundgren SM, Jani KS, De Jay N, Papillon-Cavanagh S, Andrulis IL, Sawyer SL, Grynspan D, Turcotte RE, Nadaf J, Fahiminiyah S, Muir TW, Majewski J, Thompson CB, Chi P, Garcia BA, Allis CD, Jabado N, Lewis PW. Lu C, et al. Among authors: sawyer sl. Science. 2016 May 13;352(6287):844-9. doi: 10.1126/science.aac7272. Science. 2016. PMID: 27174990 Free PMC article.
A cross-species view on viruses.
Sawyer SL, Elde NC. Sawyer SL, et al. Curr Opin Virol. 2012 Oct;2(5):561-8. doi: 10.1016/j.coviro.2012.07.003. Epub 2012 Jul 24. Curr Opin Virol. 2012. PMID: 22835485 Free PMC article. Review.
Saliva TwoStep for rapid detection of asymptomatic SARS-CoV-2 carriers.
Yang Q, Meyerson NR, Clark SK, Paige CL, Fattor WT, Gilchrist AR, Barbachano-Guerrero A, Healy BG, Worden-Sapper ER, Wu SS, Muhlrad D, Decker CJ, Saldi TK, Lasda E, Gonzales P, Fink MR, Tat KL, Hager CR, Davis JC, Ozeroff CD, Brisson GR, McQueen MB, Leinwand LA, Parker R, Sawyer SL. Yang Q, et al. Among authors: sawyer sl. Elife. 2021 Mar 29;10:e65113. doi: 10.7554/eLife.65113. Elife. 2021. PMID: 33779548 Free PMC article.
Nuku, a family of primate retrocopies derived from KU70.
Rowley PA, Ellahi A, Han K, Patel JS, Van Leuven JT, Sawyer SL. Rowley PA, et al. Among authors: sawyer sl. G3 (Bethesda). 2021 Aug 7;11(8):jkab163. doi: 10.1093/g3journal/jkab163. G3 (Bethesda). 2021. PMID: 34849803 Free PMC article.
Saliva TwoStep for rapid detection of asymptomatic SARS-CoV-2 carriers.
Yang Q, Meyerson NR, Clark SK, Paige CL, Fattor WT, Gilchrist AR, Barbachano-Guerrero A, Healy BG, Worden-Sapper ER, Wu SS, Muhlrad D, Decker CJ, Saldi TK, Lasda E, Gonzales PK, Fink MR, Tat KL, Hager CR, Davis JC, Ozeroff CD, Brisson GR, McQueen MB, Leinwand L, Parker R, Sawyer SL. Yang Q, et al. Among authors: sawyer sl. medRxiv. 2021 Feb 16:2020.07.16.20150250. doi: 10.1101/2020.07.16.20150250. Preprint. medRxiv. 2021. PMID: 33619503 Free PMC article. Updated.
Two-stepping through time: mammals and viruses.
Meyerson NR, Sawyer SL. Meyerson NR, et al. Among authors: sawyer sl. Trends Microbiol. 2011 Jun;19(6):286-94. doi: 10.1016/j.tim.2011.03.006. Epub 2011 Apr 30. Trends Microbiol. 2011. PMID: 21531564 Free PMC article. Review.
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Lemire G, Zheng B, Ediae GU, Zou R, Bhola PT, Chisholm C, de Nanassy J, Lo B, Wang C, Shril S, El Desoky S, Shalaby M, Kari JA, Wang X; Care4Rare Canada Consortium, Kernohan KD, Boycott KM, Hildebrandt F, Sawyer SL. Lemire G, et al. Among authors: sawyer sl. Am J Med Genet A. 2021 Oct;185(10):3005-3011. doi: 10.1002/ajmg.a.62398. Epub 2021 Jun 19. Am J Med Genet A. 2021. PMID: 34145744
Identification of genes for childhood heritable diseases.
Boycott KM, Dyment DA, Sawyer SL, Vanstone MR, Beaulieu CL. Boycott KM, et al. Among authors: sawyer sl. Annu Rev Med. 2014;65:19-31. doi: 10.1146/annurev-med-101712-122108. Annu Rev Med. 2014. PMID: 24422568 Review.
100 results