Murphy E - Search Results

1

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.

Amr SS, Murphy E, Duffy E, Niazi R, Balciuniene J, Luo M, Rehm HL, Abou Tayoun AN. Amr SS, et al. Among authors: murphy e. Clin Chem. 2018 Apr;64(4):705-714. doi: 10.1373/clinchem.2017.280685. Epub 2018 Jan 16. Clin Chem. 2018. PMID: 29339441

2

Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.

Laurent S, Gehrig C, Nouspikel T, Amr SS, Oza A, Murphy E, Vannier A, Béna FS, Carminho-Rodrigues MT, Blouin JL, Cao Van H, Abramowicz M, Paoloni-Giacobino A, Guipponi M. Laurent S, et al. Among authors: murphy e. Hum Mutat. 2021 Apr;42(4):373-377. doi: 10.1002/humu.24167. Epub 2021 Mar 14. Hum Mutat. 2021. PMID: 33492714 Free PMC article.

3

Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.

Sack LM, Mertens L, Murphy E, Hutchinson L, Giersch ABS, Mason-Suares H. Sack LM, et al. Among authors: murphy e. Clin Chem. 2023 Jun 1;69(6):583-594. doi: 10.1093/clinchem/hvad032. Clin Chem. 2023. PMID: 37022747

4

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Witkowski L, Dillon MW, Murphy E, S Lebo M, Mason-Suares H. Witkowski L, et al. Among authors: murphy e. Mol Genet Genomic Med. 2020 Apr;8(4):e1180. doi: 10.1002/mgg3.1180. Epub 2020 Feb 27. Mol Genet Genomic Med. 2020. PMID: 32107864 Free PMC article.

5

A Role for Chromosomal Microarray Testing in the Workup of Male Infertility.

McIntyre KJ, Murphy E, Mertens L, Dubuc AM, Heim RA, Mason-Suares H. McIntyre KJ, et al. Among authors: murphy e. J Mol Diagn. 2020 Sep;22(9):1189-1198. doi: 10.1016/j.jmoldx.2020.06.009. Epub 2020 Jun 29. J Mol Diagn. 2020. PMID: 32615168 Free article.

6

Patient centered medication treatment for opioid use disorder in rural Vermont: a qualitative study.

Hichborn EG, Murray OB, Murphy EI, Gallant TE, Moore SK, McLeman BM, Saroyan J, Folland A, Mitchell M, Marsch LA. Hichborn EG, et al. Among authors: murphy ei. Addict Sci Clin Pract. 2025 Jan 14;20(1):3. doi: 10.1186/s13722-024-00529-8. Addict Sci Clin Pract. 2025. PMID: 39810273 Free PMC article.

7

Structural Dynamics of the Ubiquitin Specific Protease USP30 in Complex with a Cyanopyrrolidine-Containing Covalent Inhibitor.

O'Brien DP, Jones HBL, Shi Y, Guenther F, Vendrell I, Viner R, Brennan PE, Mead E, Zarganes-Tzitzikas T, Davis JB, Pinto-Fernández A, England KS, Murphy EJ, Turnbull AP, Kessler BM. O'Brien DP, et al. Among authors: murphy ej. J Proteome Res. 2025 Jan 13. doi: 10.1021/acs.jproteome.4c00618. Online ahead of print. J Proteome Res. 2025. PMID: 39804742

8

Electrostatic Spray Drying of a Milk Protein Matrix-Impact on Maillard Reactions.

Chutani D, Vasiljevic T, Huppertz T, Murphy E. Chutani D, et al. Among authors: murphy e. Molecules. 2024 Dec 19;29(24):5994. doi: 10.3390/molecules29245994. Molecules. 2024. PMID: 39770082 Free PMC article.

9

Mesoscopic Morphologies in Frustrated ABC Bottlebrush Block Terpolymers.

Cui S, Murphy EA, Santra S, Bates FS, Lodge TP. Cui S, et al. Among authors: murphy ea. ACS Nano. 2025 Jan 14;19(1):1211-1221. doi: 10.1021/acsnano.4c13416. Epub 2025 Jan 6. ACS Nano. 2025. PMID: 39760286

10

Mechanisms of postischemic cardiac death and protection following myocardial injury.

Mastoor Y, Murphy E, Roman B. Mastoor Y, et al. Among authors: murphy e. J Clin Invest. 2025 Jan 2;135(1):e184134. doi: 10.1172/JCI184134. J Clin Invest. 2025. PMID: 39744953 Free PMC article. Review.

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