Yatsenko AN - Search Results

1

Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.

Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR. Shroyer NF, et al. Among authors: yatsenko an. Invest Ophthalmol Vis Sci. 2001 Nov;42(12):2757-61. Invest Ophthalmol Vis Sci. 2001. PMID: 11687513

2

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Yatsenko AN, et al. Hum Genet. 2001 Apr;108(4):346-55. doi: 10.1007/s004390100493. Hum Genet. 2001. PMID: 11379881

3

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR. Shroyer NF, et al. Among authors: yatsenko an. Hum Mol Genet. 2001 Nov 1;10(23):2671-8. doi: 10.1093/hmg/10.23.2671. Hum Mol Genet. 2001. PMID: 11726554

4

An ABCA4 genomic deletion in patients with Stargardt disease.

Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Yatsenko AN, et al. Hum Mutat. 2003 Jun;21(6):636-44. doi: 10.1002/humu.10219. Hum Mutat. 2003. PMID: 12754711

5

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.

Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JR. Yatsenko SA, et al. Among authors: yatsenko an. Clin Genet. 2004 Aug;66(2):128-36. doi: 10.1111/j.1399-0004.2004.00290.x. Clin Genet. 2004. PMID: 15253763

6

Evolution of ABCA4 proteins in vertebrates.

Yatsenko AN, Wiszniewski W, Zaremba CM, Jamrich M, Lupski JR. Yatsenko AN, et al. J Mol Evol. 2005 Jan;60(1):72-80. doi: 10.1007/s00239-004-0118-4. J Mol Evol. 2005. PMID: 15696369

7

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

Wiszniewski W, Zaremba CM, Yatsenko AN, Jamrich M, Wensel TG, Lewis RA, Lupski JR. Wiszniewski W, et al. Among authors: yatsenko an. Hum Mol Genet. 2005 Oct 1;14(19):2769-78. doi: 10.1093/hmg/ddi310. Epub 2005 Aug 15. Hum Mol Genet. 2005. PMID: 16103129

8

In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes.

Ding X, Singh P, Schimenti K, Tran TN, Fragoza R, Hardy J, Orwig KE, Olszewska M, Kurpisz MK, Yatsenko AN, Conrad DF, Yu H, Schimenti JC. Ding X, et al. Among authors: yatsenko an. Proc Natl Acad Sci U S A. 2023 Jul 25;120(30):e2219925120. doi: 10.1073/pnas.2219925120. Epub 2023 Jul 17. Proc Natl Acad Sci U S A. 2023. PMID: 37459509 Free PMC article.

9

Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization.

Yatsenko AN, Roy A, Chen R, Ma L, Murthy LJ, Yan W, Lamb DJ, Matzuk MM. Yatsenko AN, et al. Hum Mol Genet. 2006 Dec 1;15(23):3411-9. doi: 10.1093/hmg/ddl417. Epub 2006 Oct 17. Hum Mol Genet. 2006. PMID: 17047026

10

Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men.

Yatsenko AN, Yatsenko SA, Weedin JW, Lawrence AE, Patel A, Peacock S, Matzuk MM, Lamb DJ, Cheung SW, Lipshultz LI. Yatsenko AN, et al. Among authors: yatsenko sa. J Urol. 2010 Apr;183(4):1636-42. doi: 10.1016/j.juro.2009.12.004. Epub 2010 Feb 20. J Urol. 2010. PMID: 20172548 Free PMC article.

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