Cited by

• Inverted low-copy repeats and genome instability--a genome-wide analysis.

  Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A. Dittwald P, et al. Hum Mutat. 2013 Jan;34(1):210-20. doi: 10.1002/humu.22217. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22965494 Free PMC article.
• Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.

  Balciuniene J, Feng N, Iyadurai K, Hirsch B, Charnas L, Bill BR, Easterday MC, Staaf J, Oseth L, Czapansky-Beilman D, Avramopoulos D, Thomas GH, Borg A, Valle D, Schimmenti LA, Selleck SB. Balciuniene J, et al. Am J Hum Genet. 2007 May;80(5):938-47. doi: 10.1086/513607. Epub 2007 Mar 20. Am J Hum Genet. 2007. PMID: 17436248 Free PMC article.
• Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

  Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR. Yuan B, et al. PLoS Genet. 2015 Dec 7;11(12):e1005686. doi: 10.1371/journal.pgen.1005686. eCollection 2015 Dec. PLoS Genet. 2015. PMID: 26641089 Free PMC article.
• A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

  Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. Sharp AJ, et al. Nat Genet. 2008 Mar;40(3):322-8. doi: 10.1038/ng.93. Epub 2008 Feb 17. Nat Genet. 2008. PMID: 18278044 Free PMC article.
• MAPT haplotype-associated transcriptomic changes in progressive supranuclear palsy.

  Ressler HW, Humphrey J, Vialle RA, Babrowicz B, Kandoi S, Raj T, Dickson DW, Ertekin-Taner N, Crary JF, Farrell K. Ressler HW, et al. Acta Neuropathol Commun. 2024 Aug 17;12(1):135. doi: 10.1186/s40478-024-01839-3. Acta Neuropathol Commun. 2024. PMID: 39154163 Free PMC article.