O'Connor BC - Search Results

1

Practical considerations for reinterpretation of individual genetic variants.

Appelbaum PS, Berger SM, Brokamp E, Brown HS, Burke W, Clayton EW, Evans BJ, Hamid R, Marchant GE, Martin DM, O'Connor BC, Pagán JA, Parens E, Roberts JL, Rowe J, Schneider J, Siegel K, Veenstra DL, Chung WK. Appelbaum PS, et al. Among authors: o connor bc. Genet Med. 2023 May;25(5):100801. doi: 10.1016/j.gim.2023.100801. Epub 2023 Feb 4. Genet Med. 2023. PMID: 36748709 Free PMC article.

2

Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines.

Berger SM, Appelbaum PS, Siegel K, Wynn J, Saami AM, Brokamp E, O'Connor BC, Hamid R, Martin DM, Chung WK. Berger SM, et al. Among authors: o connor bc. Genet Med. 2022 Sep;24(9):1878-1887. doi: 10.1016/j.gim.2022.06.002. Epub 2022 Jun 29. Genet Med. 2022. PMID: 35767006 Free PMC article.

3

A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.

Beck DB, Cho MT, Millan F, Yates C, Hannibal M, O'Connor B, Shinawi M, Connolly AM, Waggoner D, Halbach S, Angle B, Sanders V, Shen Y, Retterer K, Begtrup A, Bai R, Chung WK. Beck DB, et al. Neurogenetics. 2016 Jul;17(3):173-8. doi: 10.1007/s10048-016-0482-4. Epub 2016 Apr 19. Neurogenetics. 2016. PMID: 27094857

4

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM. Ziats MN, et al. Among authors: o connor bc. Pediatr Res. 2020 Mar;87(4):735-739. doi: 10.1038/s41390-019-0611-5. Epub 2019 Oct 16. Pediatr Res. 2020. PMID: 31618753 Free PMC article.

5

Primary care physicians' understanding and utilization of pediatric exome sequencing results.

Mazzola SE, O'Connor B, Yashar BM. Mazzola SE, et al. J Genet Couns. 2019 Dec;28(6):1130-1138. doi: 10.1002/jgc4.1163. Epub 2019 Aug 30. J Genet Couns. 2019. PMID: 31469212 Free article.

6

Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype.

O'Connor BC, Macke EL, Keegan CE. O'Connor BC, et al. Mamm Genome. 2011 Dec;22(11-12):714-21. doi: 10.1007/s00335-011-9360-4. Epub 2011 Oct 22. Mamm Genome. 2011. PMID: 22038471 Free PMC article.

7

Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis.

Vlangos CN, O'Connor BC, Morley MJ, Krause AS, Osawa GA, Keegan CE. Vlangos CN, et al. Dev Biol. 2009 Oct 15;334(2):418-28. doi: 10.1016/j.ydbio.2009.07.038. Epub 2009 Aug 3. Dev Biol. 2009. PMID: 19660449 Free PMC article.

8

High-throughput gene expression analysis identifies p53-dependent and -independent pathways contributing to the adrenocortical dysplasia (acd) phenotype.

Sucularli C, Thomas P, Kocak H, White JS, O'Connor BC, Keegan CE. Sucularli C, et al. Gene. 2018 Dec 30;679:219-231. doi: 10.1016/j.gene.2018.09.002. Epub 2018 Sep 4. Gene. 2018. PMID: 30189268 Free PMC article.

9

Knowledge and attitudes about genetic counseling in patients at a major hospital in Addis Ababa, Ethiopia.

Jacobs MF, O'Connor BC, Weldetsadik AY, Tekleab AM, Bekele D, Hanson E, Quinonez SC. Jacobs MF, et al. Among authors: o connor bc. J Genet Couns. 2021 Apr;30(2):544-552. doi: 10.1002/jgc4.1340. Epub 2020 Oct 28. J Genet Couns. 2021. PMID: 33118289 Free article.

10

The introduction of genetic counseling in Ethiopia: Results of a training workshop and lessons learned.

Quinonez SC, O'Connor BC, Jacobs MF, Mekonnen Tekleab A, Marye A, Bekele D, Yashar BM, Hanson E, Yeshidinber A, Wedaje G. Quinonez SC, et al. Among authors: o connor bc. PLoS One. 2021 Jul 23;16(7):e0255278. doi: 10.1371/journal.pone.0255278. eCollection 2021. PLoS One. 2021. PMID: 34297771 Free PMC article.

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