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

Year Number of Results
2002 3
2004 2
2005 2
2006 3
2007 12
2008 6
2009 5
2010 7
2011 1
2012 3
2013 3
2014 2
2016 1
2019 3
2022 1
2023 1
2024 0

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52 results

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Page 1
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J, Curry CJ, Tarpey PS, Robertson SP, Maystadt I, Keren B, Dixon JW, Skinner C, Stapleton R, Ruaud L, Gumus E, Lakeman P, Alders M, Tedder ML, Schwartz CE, Friez MJ, Sadikovic B, Stevenson RE. Wang J, et al. Eur J Hum Genet. 2022 Apr;30(4):420-427. doi: 10.1038/s41431-021-01018-1. Epub 2022 Jan 7. Eur J Hum Genet. 2022. PMID: 34992252 Free PMC article.
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Poeta L, Padula A, Attianese B, Valentino M, Verrillo L, Filosa S, Shoubridge C, Barra A, Schwartz CE, Christensen J, van Bokhoven H, Helin K, Lioi MB, Collombat P, Gecz J, Altucci L, Di Schiavi E, Miano MG. Poeta L, et al. Hum Mol Genet. 2019 Dec 15;28(24):4089-4102. doi: 10.1093/hmg/ddz254. Hum Mol Genet. 2019. PMID: 31691806 Free PMC article.
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.
Hirose T, Cabrera-Socorro A, Chitayat D, Lemonnier T, Féraud O, Cifuentes-Diaz C, Gervasi N, Mombereau C, Ghosh T, Stoica L, Bacha JDA, Yamada H, Lauterbach MA, Guillon M, Kaneko K, Norris JW, Siriwardena K, Blasér S, Teillon J, Mendoza-Londono R, Russeau M, Hadoux J, Ito S, Corvol P, Matheus MG, Holden KR, Takei K, Emiliani V, Bennaceur-Griscelli A, Schwartz CE, Nguyen G, Groszer M. Hirose T, et al. J Clin Invest. 2019 Apr 15;129(5):2145-2162. doi: 10.1172/JCI79990. eCollection 2019 Apr 15. J Clin Invest. 2019. PMID: 30985297 Free PMC article.
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Friez MJ, Brooks SS, Stevenson RE, Field M, Basehore MJ, Adès LC, Sebold C, McGee S, Saxon S, Skinner C, Craig ME, Murray L, Simensen RJ, Yap YY, Shaw MA, Gardner A, Corbett M, Kumar R, Bosshard M, van Loon B, Tarpey PS, Abidi F, Gecz J, Schwartz CE. Friez MJ, et al. BMJ Open. 2016 Apr 29;6(4):e009537. doi: 10.1136/bmjopen-2015-009537. BMJ Open. 2016. PMID: 27130160 Free PMC article.
19q13.32 microdeletion syndrome: three new cases.
Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM Jr. Castillo A, et al. Eur J Med Genet. 2014 Nov-Dec;57(11-12):654-8. doi: 10.1016/j.ejmg.2014.08.009. Epub 2014 Sep 16. Eur J Med Genet. 2014. PMID: 25230004
MED12 related disorders.
Graham JM Jr, Schwartz CE. Graham JM Jr, et al. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Am J Med Genet A. 2013. PMID: 24123922 Free PMC article. Review.
52 results