Moyer K - Search Results

1

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Among authors: moyer k. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 Free PMC article.

2

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Kaseniit KE, Collins E, Lo C, Moyer K, Mar-Heyming R, Kang HP, Muzzey D. Kaseniit KE, et al. Among authors: moyer k. Clin Genet. 2019 Sep;96(3):236-245. doi: 10.1111/cge.13582. Epub 2019 Jul 1. Clin Genet. 2019. PMID: 31170325 Free PMC article.

3

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Harrison SM, Dolinksy JS, Chen W, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Mar-Heyming R, McFaddin AS, Moyer K, Nagan N, Rentas S, Santani AB, Seppälä EH, Shirts BH, Tidwell T, Topper S, Vincent LM, Vinette K, Rehm HL; ClinGen Sequence Variant Inter-Laboratory Discrepancy Resolution Working Group. Harrison SM, et al. Among authors: moyer k. Hum Mutat. 2018 Nov;39(11):1641-1649. doi: 10.1002/humu.23643. Hum Mutat. 2018. PMID: 30311378 Free PMC article.

4

Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions.

Balzotti M, Meng L, Muzzey D, Johansen Taber K, Beauchamp K, Curation Team MG, Curation Team BG, Mar-Heyming R, Buckley B, Moyer K. Balzotti M, et al. Among authors: moyer k. Hum Mutat. 2020 Aug;41(8):1365-1371. doi: 10.1002/humu.24033. Epub 2020 May 21. Hum Mutat. 2020. PMID: 32383249 Free PMC article.

5

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

Cecchi AC, Vengoechea ES, Kaseniit KE, Hardy MW, Kiger LA, Mehta N, Haque IS, Moyer K, Page PZ, Muzzey D, Grinzaid KA. Cecchi AC, et al. Among authors: moyer k. Mol Genet Genomic Med. 2019 Aug;7(8):e836. doi: 10.1002/mgg3.836. Epub 2019 Jul 10. Mol Genet Genomic Med. 2019. PMID: 31293106 Free PMC article.

6

Prenatal carrier testing for fragile X: counseling issues and challenges.

Musci TJ, Moyer K. Musci TJ, et al. Among authors: moyer k. Obstet Gynecol Clin North Am. 2010 Mar;37(1):61-70, Table of Contents. doi: 10.1016/j.ogc.2010.03.004. Obstet Gynecol Clin North Am. 2010. PMID: 20494258

7

Prevention of catheter-associated urinary tract infection with a silver oxide-coated urinary catheter: clinical and microbiologic correlates.

Johnson JR, Roberts PL, Olsen RJ, Moyer KA, Stamm WE. Johnson JR, et al. Among authors: moyer ka. J Infect Dis. 1990 Nov;162(5):1145-50. doi: 10.1093/infdis/162.5.1145. J Infect Dis. 1990. PMID: 2230239 Clinical Trial.

8

Prevention of beta-lactam-associated diarrhea by Saccharomyces boulardii compared with placebo.

McFarland LV, Surawicz CM, Greenberg RN, Elmer GW, Moyer KA, Melcher SA, Bowen KE, Cox JL. McFarland LV, et al. Among authors: moyer ka. Am J Gastroenterol. 1995 Mar;90(3):439-48. Am J Gastroenterol. 1995. PMID: 7872284 Clinical Trial.

9

A randomized placebo-controlled trial of Saccharomyces boulardii in combination with standard antibiotics for Clostridium difficile disease.

McFarland LV, Surawicz CM, Greenberg RN, Fekety R, Elmer GW, Moyer KA, Melcher SA, Bowen KE, Cox JL, Noorani Z, et al. McFarland LV, et al. Among authors: moyer ka. JAMA. 1994 Jun 22-29;271(24):1913-8. JAMA. 1994. PMID: 8201735 Clinical Trial.

10

Disease and toxicity outcomes for a modern cohort of patients with squamous cell carcinoma of cutaneous origin involving the parotid gland: Comparison of volumetric modulated arc therapy and pencil beam scanning proton therapy.

Zarinshenas R, Campbell P, Sun K, Molitoris JK, Patel AN, Witek ME, Cullen KJ, Mehra R, Hatten KM, Moyer KF, Taylor RJ, Vakharia KT, Wolf JS, Ferris MJ. Zarinshenas R, et al. Among authors: moyer kf. Radiother Oncol. 2024 Apr;193:110112. doi: 10.1016/j.radonc.2024.110112. Epub 2024 Feb 1. Radiother Oncol. 2024. PMID: 38309587

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