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

Year Number of Results
1975 2
1978 1
1979 2
1981 1
1982 2
1983 4
1984 1
1985 2
1986 7
1987 2
1988 6
1989 5
1990 8
1991 11
1992 8
1993 6
1994 11
1995 7
1996 7
1997 6
1998 11
1999 34
2000 7
2001 5
2002 13
2003 13
2004 16
2005 12
2006 21
2007 22
2008 25
2009 28
2010 31
2011 17
2012 27
2013 29
2014 20
2015 18
2016 20
2017 22
2018 21
2019 24
2020 11
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Publication date

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502 results
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Page 1
X-linked intellectual disability update 2017.
Neri G, Schwartz CE, Lubs HA, Stevenson RE. Neri G, et al. Among authors: Schwartz CE. Am J Med Genet A. 2018 Jun;176(6):1375-1388. doi: 10.1002/ajmg.a.38710. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696803 Free PMC article. Review.
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Paré G, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B. Aref-Eshghi E, et al. Among authors: Schwartz CE. Nat Commun. 2018 Nov 20;9(1):4885. doi: 10.1038/s41467-018-07193-y. Nat Commun. 2018. PMID: 30459321 Free PMC article.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF. Piard J, et al. Among authors: Schwartz CE. Hum Mol Genet. 2018 Feb 15;27(4):589-600. doi: 10.1093/hmg/ddx426. Hum Mol Genet. 2018. PMID: 29267967 Free PMC article.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. Aref-Eshghi E, et al. Among authors: Schwartz CE. Am J Hum Genet. 2019 Apr 4;104(4):685-700. doi: 10.1016/j.ajhg.2019.03.008. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929737 Free PMC article.
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG. Li C, et al. Among authors: Schwartz CE. Nat Commun. 2017 Nov 2;8(1):1257. doi: 10.1038/s41467-017-01289-7. Nat Commun. 2017. PMID: 29097652 Free PMC article.
Polyamine Homeostasis in Snyder-Robinson Syndrome.
Murray-Stewart T, Dunworth M, Foley JR, Schwartz CE, Casero RA Jr. Murray-Stewart T, et al. Among authors: Schwartz CE. Med Sci (Basel). 2018 Dec 7;6(4):112. doi: 10.3390/medsci6040112. Med Sci (Basel). 2018. PMID: 30544565 Free PMC article.
Introduction to special section: test construction.
Paap MCS, Böhnke JR, Schwartz CE, Oort FJ. Paap MCS, et al. Among authors: Schwartz CE. Qual Life Res. 2018 Jul;27(7):1671-1672. doi: 10.1007/s11136-018-1886-4. Qual Life Res. 2018. PMID: 29802512 No abstract available.
Introduction to special section: measuring what matters.
Blum SI, Ahmed S, Flood E, Oort FJ, Schwartz CE. Blum SI, et al. Among authors: Schwartz CE. Qual Life Res. 2018 Jan;27(1):1-3. doi: 10.1007/s11136-017-1743-x. Qual Life Res. 2018. PMID: 29177566 No abstract available.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. Aldinger KA, et al. Among authors: Schwartz CE. Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29. Am J Hum Genet. 2019. PMID: 31474318 Free PMC article.
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