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Functional divergence of the two Elongator subcomplexes during neurodevelopment.
Gaik M, Kojic M, Stegeman MR, Öncü-Öner T, Kościelniak A, Jones A, Mohamed A, Chau PYS, Sharmin S, Chramiec-Głąbik A, Indyka P, Rawski M, Biela A, Dobosz D, Millar A, Chau V, Ünalp A, Piper M, Bellingham MC, Eichler EE, Nickerson DA, Güleryüz H, Abbassi NEH, Jazgar K, Davis MJ, Mercimek-Andrews S, Cingöz S, Wainwright BJ, Glatt S. Gaik M, et al. Among authors: eichler ee. EMBO Mol Med. 2022 Jul 7;14(7):e15608. doi: 10.15252/emmm.202115608. Epub 2022 Jun 13. EMBO Mol Med. 2022. PMID: 35698786 Free PMC article.
High-throughput genotyping of intermediate-size structural variation.
Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, Sprague LJ, Kaul R, Carlson CS, Olson MV, Nickerson DA, Eichler EE. Newman TL, et al. Among authors: eichler ee. Hum Mol Genet. 2006 Apr 1;15(7):1159-67. doi: 10.1093/hmg/ddl031. Epub 2006 Feb 23. Hum Mol Genet. 2006. PMID: 16497726
Population analysis of large copy number variants and hotspots of human genetic disease.
Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. Itsara A, et al. Among authors: eichler ee. Am J Hum Genet. 2009 Feb;84(2):148-61. doi: 10.1016/j.ajhg.2008.12.014. Epub 2009 Jan 22. Am J Hum Genet. 2009. PMID: 19166990 Free PMC article.
Targeted interrogation of copy number variation using SCIMMkit.
Zerr T, Cooper GM, Eichler EE, Nickerson DA. Zerr T, et al. Among authors: eichler ee. Bioinformatics. 2010 Jan 1;26(1):120-2. doi: 10.1093/bioinformatics/btp606. Epub 2009 Oct 21. Bioinformatics. 2010. PMID: 19846438 Free PMC article.
De novo rates and selection of large copy number variation.
Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, London SJ, Eichler EE. Itsara A, et al. Among authors: eichler ee. Genome Res. 2010 Nov;20(11):1469-81. doi: 10.1101/gr.107680.110. Epub 2010 Sep 14. Genome Res. 2010. PMID: 20841430 Free PMC article.
Evidence for involvement of GNB1L in autism.
Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac Z. Chen YZ, et al. Among authors: eichler ee. Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):61-71. doi: 10.1002/ajmg.b.32002. Epub 2011 Nov 16. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22095694 Free PMC article.
Copy number variation detection and genotyping from exome sequence data.
Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP; NHLBI Exome Sequencing Project; Quinlan AR, Nickerson DA, Eichler EE. Krumm N, et al. Among authors: eichler ee. Genome Res. 2012 Aug;22(8):1525-32. doi: 10.1101/gr.138115.112. Epub 2012 May 14. Genome Res. 2012. PMID: 22585873 Free PMC article.
608 results