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Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.
Karolak JA, Rydzanicz M, Ginter-Matuszewska B, Pitarque JA, Molinari A, Bejjani BA, Gajecka M. Karolak JA, et al. Among authors: pitarque ja. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7687-90. doi: 10.1167/iovs.15-17538. Invest Ophthalmol Vis Sci. 2015. PMID: 26641546
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG. Rosenfeld JA, et al. Among authors: pitarque ja. Am J Med Genet A. 2011 Aug;155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744490
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Leal SM, Bejjani BA. Gajecka M, et al. Among authors: pitarque ja. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1531-9. doi: 10.1167/iovs.08-2173. Epub 2008 Nov 14. Invest Ophthalmol Vis Sci. 2009. PMID: 19011015 Free PMC article.