Wohler ES - Search Results

1

Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants.

Gottschalk LB, Vecchio-Pagan B, Sharma N, Han ST, Franca A, Wohler ES, Batista DA, Goff LA, Cutting GR. Gottschalk LB, et al. Among authors: wohler es. J Cyst Fibros. 2016 May;15(3):285-94. doi: 10.1016/j.jcf.2015.11.010. Epub 2015 Dec 13. J Cyst Fibros. 2016. PMID: 26694805 Free PMC article.

2

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.

Migliavacca MP, Fock RA, Almeida N, Cavalcanti T, Villela D, Perez ABA, Valle D, Wohler E, Sobreira NLM, Raskin S. Migliavacca MP, et al. Rev Paul Pediatr. 2023 Apr 7;41:e2022057. doi: 10.1590/1984-0462/2023/41/2022057. eCollection 2023. Rev Paul Pediatr. 2023. PMID: 37042943 Free PMC article.

3

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: wohler es. 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

4

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. 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

5

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. 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

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 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. 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.

8

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. Case Rep Genet. 2015;2015:169482. doi: 10.1155/2015/169482. Epub 2015 Nov 17. Case Rep Genet. 2015. PMID: 26664771 Free PMC article.

9

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: wohler es. Ophthalmic Genet. 2021 Oct;42(5):553-560. doi: 10.1080/13816810.2021.1938136. Epub 2021 Jun 22. Ophthalmic Genet. 2021. PMID: 34157943

10

Mapping Genetic Susceptibility to Stenosis in the Proximal Airway.

Sharif K, Tierney WS, Davis RJ, Wohler E, Sobreira N, Hillel AT, Collins S, Ramirez-Solano M, Sheng Q, Gelbard A. Sharif K, et al. Laryngoscope. 2023 Nov;133(11):3049-3056. doi: 10.1002/lary.30718. Epub 2023 Apr 27. Laryngoscope. 2023. PMID: 37102306 Free PMC article.

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