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The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.
Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP; eMERGE Network; Crosslin DR. Stanaway IB, et al. Among authors: amr ss. Genet Epidemiol. 2019 Feb;43(1):63-81. doi: 10.1002/gepi.22167. Epub 2018 Oct 8. Genet Epidemiol. 2019. PMID: 30298529 Free PMC article.
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, Funke BH. Ceyhan-Birsoy O, et al. Among authors: amr ss. Mol Genet Genomic Med. 2015 Dec 16;4(2):143-51. doi: 10.1002/mgg3.187. eCollection 2016 Mar. Mol Genet Genomic Med. 2015. PMID: 27066507 Free PMC article.
Lung function, airway and peripheral basophils and eosinophils are associated with molecular pharmacogenomic endotypes of steroid response in severe asthma.
Kho AT, McGeachie MJ, Li J, Chase RP, Amr SS, Hastie AT, Hawkins GA, Li X, Chupp GL, Meyers DA, Bleecker ER, Weiss ST, Tantisira KG. Kho AT, et al. Among authors: amr ss. Thorax. 2022 May;77(5):452-460. doi: 10.1136/thoraxjnl-2020-215523. Epub 2021 Sep 27. Thorax. 2022. PMID: 34580195 Free PMC article.
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Oza AM, et al. Among authors: amr ss. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 Free PMC article.
Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.
Liu G, Peng J, Liao Z, Locascio JJ, Corvol JC, Zhu F, Dong X, Maple-Grødem J, Campbell MC, Elbaz A, Lesage S, Brice A, Mangone G, Growdon JH, Hung AY, Schwarzschild MA, Hayes MT, Wills AM, Herrington TM, Ravina B, Shoulson I, Taba P, Kõks S, Beach TG, Cormier-Dequaire F, Alves G, Tysnes OB, Perlmutter JS, Heutink P, Amr SS, van Hilten JJ, Kasten M, Mollenhauer B, Trenkwalder C, Klein C, Barker RA, Williams-Gray CH, Marinus J; International Genetics of Parkinson Disease Progression (IGPP) Consortium; Scherzer CR. Liu G, et al. Among authors: amr ss. Nat Genet. 2021 Jun;53(6):787-793. doi: 10.1038/s41588-021-00847-6. Epub 2021 May 6. Nat Genet. 2021. PMID: 33958783 Free PMC article.
Automated Pharmacogenomic Reports for Clinical Genome Sequencing.
Klanderman BJ, Koch C, Machini K, Parpattedar SS, Bandyadka S, Lin CF, Hynes E, Lebo MS, Amr SS. Klanderman BJ, et al. Among authors: amr ss. J Mol Diagn. 2022 Mar;24(3):205-218. doi: 10.1016/j.jmoldx.2021.12.001. Epub 2022 Jan 15. J Mol Diagn. 2022. PMID: 35041930 Free article.
Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort.
LaBelle J, Bowser M, Brown A, Farnam L, Kho A, Li J, McGeachie M, Chase R, Piehl S, Allen K, Hobbs BD, Weiss ST, Hersh C, Tantisira K, Amr SS. LaBelle J, et al. Among authors: amr ss. J Mol Diagn. 2021 Jun;23(6):671-682. doi: 10.1016/j.jmoldx.2021.03.006. Epub 2021 Apr 17. J Mol Diagn. 2021. PMID: 33872788 Free PMC article.
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.
DiStefano MT, Hemphill SE, Cushman BJ, Bowser MJ, Hynes E, Grant AR, Siegert RK, Oza AM, Gonzalez MA, Amr SS, Rehm HL, Abou Tayoun AN. DiStefano MT, et al. Among authors: amr ss. J Mol Diagn. 2018 Nov;20(6):789-801. doi: 10.1016/j.jmoldx.2018.06.005. Epub 2018 Aug 8. J Mol Diagn. 2018. PMID: 30096381 Free PMC article.
165 results