R21DC010912/DC/NIDCD NIH HHS/United States[Grants and Funding] - Search Results

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Year	Number of Results
2013	3
2014	1
2025	0

Page 1

Whole-genome copy number variation analysis in anophthalmia and microphthalmia.

Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV. Schilter KF, et al. Clin Genet. 2013 Nov;84(5):473-81. doi: 10.1111/cge.12202. Epub 2013 Jun 17. Clin Genet. 2013. PMID: 23701296 Free PMC article.

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV. Weh E, et al. Clin Genet. 2014 Aug;86(2):142-8. doi: 10.1111/cge.12241. Epub 2013 Sep 17. Clin Genet. 2014. PMID: 23889335 Free PMC article.

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV. Reis LM, et al. Hum Genet. 2013 Jul;132(7):761-70. doi: 10.1007/s00439-013-1289-0. Epub 2013 Mar 19. Hum Genet. 2013. PMID: 23508780 Free PMC article. Clinical Trial.

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