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Transmission disequilibrium of small CNVs in simplex autism.
Krumm N, O'Roak BJ, Karakoc E, Mohajeri K, Nelson B, Vives L, Jacquemont S, Munson J, Bernier R, Eichler EE. Krumm N, et al. Among authors: eichler ee. Am J Hum Genet. 2013 Oct 3;93(4):595-606. doi: 10.1016/j.ajhg.2013.07.024. Epub 2013 Sep 12. Am J Hum Genet. 2013. PMID: 24035194 Free PMC article.
Segmental duplications and copy-number variation in the human genome.
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE. Sharp AJ, et al. Among authors: eichler ee. Am J Hum Genet. 2005 Jul;77(1):78-88. doi: 10.1086/431652. Epub 2005 May 25. Am J Hum Genet. 2005. PMID: 15918152 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
Structural variation of the human genome.
Sharp AJ, Cheng Z, Eichler EE. Sharp AJ, et al. Among authors: eichler ee. Annu Rev Genomics Hum Genet. 2006;7:407-42. doi: 10.1146/annurev.genom.7.080505.115618. Annu Rev Genomics Hum Genet. 2006. PMID: 16780417 Review.
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM, Peterson EA, Knutzen DM, Barnett K, Farlow MR, Caress J, Parry GJ, Quan D, Gardner KL, Hong M, Simmons Z, Bird TD, Chance PF, Hannibal MC. Landsverk ML, et al. Among authors: eichler ee. Hum Mol Genet. 2009 Apr 1;18(7):1200-8. doi: 10.1093/hmg/ddp014. Epub 2009 Jan 12. Hum Mol Genet. 2009. PMID: 19139049 Free PMC article.
613 results