Selected Publications

Integrated small copy number variations and epigenome maps of disorders of sex development. Amarillo IE, Nievera I, Hagan A, Huchthagowder V, Heeley J, Hollander A, Koenig J, Austin P,  Wang T. 2016 Human Genome Variation 3, 16012. doi:10.1038/hgv.2016.12. Article.

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. Zhang B, Willing M, Grange DK, Shinawi M, Manwaring L, Vineyard M, Kulkarni S, Cottrell CE. Am J Med Genet A. 2016 Mar;170(3):583-93. doi: 10.1002/ajmg.a.37445. Epub 2015 Nov 24. PMID: 26601658

Digynic triploidy: utility and challenges of noninvasive prenatal testing. Fleischer J, Shenoy A, Goetzinger K, Cottrell CE, Baldridge D, White FV, Shinawi M. Clin Case Rep. 2015 Jun;3(6):406-10. doi: 10.1002/ccr3.247. Epub 2015 Apr 9. PMID: 26185638

De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome. Amarillo IE, O’Connor S, Lee CK, Willing M, Wambach JA. Am J Med Genet A. 2015 Dec;167A(12):2966-74. doi: 10.1002/ajmg.a.37296. Epub 2015 Aug 19. PMID: 26768185

De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders. Amarillo IE, Li WL, Li X, Vilain E, Kantarci S. Am J Med Genet A. 2014 Apr;164A(4):958-65. doi: 10.1002/ajmg.a.36393. Epub 2014 Jan 23. PMID: 24459036

Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. Amarillo IE, Dipple KM, Quintero-Rivera F. Am J Med Genet A. 2013 May;161A(5):1167-72. doi: 10.1002/ajmg.a.35847. Epub 2013 Mar 26. PMID: 23532965

Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. Cottrell CE, Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier-Foster JM, Pyatt RE. Clin Genet. 2012 Jun;81(6):578-83. doi: 10.1111/j.1399-0004.2011.01681.x. Epub 2011 May 4. PMID: 21480868

Contactin 4 as an autism susceptibility locus. Cottrell CE, Bir N, Varga E, Alvarez CE, Bouyain S, Zernzach R, Thrush DL, Evans J, Trimarchi M, Butter EM, Cunningham D, Gastier-Foster JM, McBride KL, Herman GE. Autism Res. 2011 Jun;4(3):189-99. doi: 10.1002/aur.184. Epub 2011 Feb 9. PMID: 21308999

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization. Cottrell CE, Prior TW, Pyatt R, Astbury C, Reshmi S, Bartholomew D, Atkin J, Manickam K, Thrush DL, Pastore M, Mendell J, Tsao CY, Al-Dahhak R, Newmeyer A, Gastier-Foster JM. Am J Med Genet A. 2010 Sep;152A(9):2301-7. doi: 10.1002/ajmg.a.33532. PMID: 20683981

Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy. Cottrell CE, Sommer A, Wenger GD, Bullard S, Busch T, Krahn KN, Lidral AC, Gastier-Foster JM. Am J Med Genet A. 2009 Mar;149A(3):408-14. doi: 10.1002/ajmg.a.32699. PMID: 19215059

[Histone turnover in the dynamic regulation of chromatin]. Mito Y. Tanpakushitsu Kakusan Koso. 2008 Apr;53(5):658-65. Review. Japanese. No abstract available. PMID: 18409560

Histone replacement marks the boundaries of cis-regulatory domains. Mito Y, Henikoff JG, Henikoff S. Science. 2007 Mar 9;315(5817):1408-11. PMID: 17347439

Genome-scale profiling of histone H3.3 replacement patterns. Mito Y, Henikoff JG, Henikoff S. Nat Genet. 2005 Oct;37(10):1090-7. Epub 2005 Sep 11. PMID: 16155569

Distinct developmental function of two Caenorhabditis elegans homologs of the cohesin subunit Scc1/Rad21. Mito Y, Sugimoto A, Yamamoto M. Mol Biol Cell. 2003 Jun;14(6):2399-409. Epub 2003 Feb 6. PMID: 12808038