Batista DA - Search Results

1

Mosaic trisomy 13: understanding origin using SNP array.

Jinawath N, Zambrano R, Wohler E, Palmquist MK, Hoover-Fong J, Hamosh A, Batista DA. Jinawath N, et al. Among authors: batista da. J Med Genet. 2011 May;48(5):323-6. doi: 10.1136/jmg.2010.083931. Epub 2010 Nov 19. J Med Genet. 2011. PMID: 21097773

2

Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1.

Zambrano RM, Wohler E, Annerén G, Thuresson AC, Cutting GR, Batista DA. Zambrano RM, et al. Among authors: batista da. Eur J Med Genet. 2011 Mar-Apr;54(2):189-93. doi: 10.1016/j.ejmg.2010.11.008. Epub 2010 Dec 7. Eur J Med Genet. 2011. PMID: 21144914

3

The impact of chromosomal microarray on clinical management: a retrospective analysis.

Henderson LB, Applegate CD, Wohler E, Sheridan MB, Hoover-Fong J, Batista DA. Henderson LB, et al. Among authors: batista da. Genet Med. 2014 Sep;16(9):657-64. doi: 10.1038/gim.2014.18. Epub 2014 Mar 13. Genet Med. 2014. PMID: 24625444 Free article.

4

3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition.

Li F, Lisi EC, Wohler ES, Hamosh A, Batista DA. Li F, et al. Among authors: batista da. Eur J Med Genet. 2009 Sep-Oct;52(5):349-52. doi: 10.1016/j.ejmg.2009.05.001. Epub 2009 May 19. Eur J Med Genet. 2009. PMID: 19460468

5

Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.

Motta FL, Filippelli-Silva R, Kitajima JP, Batista DA, Wohler ES, Sobreira NL, Martin RP, Ferraz Sallum JM. Motta FL, et al. Among authors: batista da. Ophthalmic Genet. 2021 Oct;42(5):553-560. doi: 10.1080/13816810.2021.1938136. Epub 2021 Jun 22. Ophthalmic Genet. 2021. PMID: 34157943

6

An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.

Raymond G, Wohler E, Dinsmore C, Cox J, Johnston M, Batista D, Wang T. Raymond G, et al. Am J Med Genet A. 2011 Apr;155A(4):920-3. doi: 10.1002/ajmg.a.33929. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416599 No abstract available.

7

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.

Sheridan MB, Wohler E, Batista DA, Applegate C, Hoover-Fong J. Sheridan MB, et al. Among authors: batista da. Case Rep Genet. 2015;2015:169482. doi: 10.1155/2015/169482. Epub 2015 Nov 17. Case Rep Genet. 2015. PMID: 26664771 Free PMC article.

8

3q29 interstitial microduplication: a new syndrome in a three-generation family.

Lisi EC, Hamosh A, Doheny KF, Squibb E, Jackson B, Galczynski R, Thomas GH, Batista DA. Lisi EC, et al. Among authors: batista da. Am J Med Genet A. 2008 Mar 1;146A(5):601-9. doi: 10.1002/ajmg.a.32190. Am J Med Genet A. 2008. PMID: 18241066

9

Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development.

Mardo V, Squibb EE, Braverman N, Hoover-Fong JE, Migeon C, Batista DA, Thomas GH. Mardo V, et al. Among authors: batista da. Am J Med Genet A. 2008 Sep 1;146A(17):2293-7. doi: 10.1002/ajmg.a.32316. Am J Med Genet A. 2008. PMID: 18661548 No abstract available.

10

Albinism and developmental delay: the need to test for 15q11-q13 deletion.

Saadeh R, Lisi EC, Batista DA, McIntosh I, Hoover-Fong JE. Saadeh R, et al. Among authors: batista da. Pediatr Neurol. 2007 Oct;37(4):299-302. doi: 10.1016/j.pediatrneurol.2007.06.024. Pediatr Neurol. 2007. PMID: 17903679 Free PMC article.

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