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Page 1
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.
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: amr ss. 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.
Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease.
Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SS, Lebo MS, Nagy A, Peloso GM, Natarajan P, Rotter JI, Willer C, Boerwinkle E, Ballantyne CM, Lutsey PL, Fornage M, Lloyd-Jones DM, Hou L, Psaty BM, Bis JC, Floyd JS, Vasan RS, Heard-Costa NL, Carson AP, Hall ME, Rich SS, Guo X, Kazi DS, de Ferranti SD, Moran AE. Zhang Y, et al. Circulation. 2023 May 16;147(20):1556-1559. doi: 10.1161/CIRCULATIONAHA.123.064168. Epub 2023 May 15. Circulation. 2023. PMID: 37186683 No abstract available.
Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.
Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SS, Lebo MS, Nagy A, Peloso GM, Natarajan P, Rotter JI, Willer C, Boerwinkle E, Ballantyne CM, Lutsey PL, Fornage M, Lloyd-Jones DM, Hou L, Psaty BM, Bis JC, Floyd JS, Vasan RS, Heard-Costa NL, Carson AP, Hall ME, Rich SS, Guo X, Kazi DS, de Ferranti SD, Moran AE. Zhang Y, et al. JAMA Cardiol. 2024 Mar 1;9(3):263-271. doi: 10.1001/jamacardio.2023.5366. JAMA Cardiol. 2024. PMID: 38294787
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.
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.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA; ClinGen Hearing Loss Clinical Domain Working Group. Patel MJ, et al. Among authors: amr ss. Genet Med. 2021 Nov;23(11):2208-2212. doi: 10.1038/s41436-021-01254-2. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230634 Free PMC article.
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Chen R, Diaz-Miranda MA, Aref-Eshghi E, Hartman TR, Griffith C, Morrison JL, Wheeler PG, Torti E, Richard G, Kenna M, Dechene ET, Spinner NB, Bai R, Conlin LK, Krantz ID, Amr SS, Luo M. Chen R, et al. Among authors: amr ss. Hum Mutat. 2022 Dec;43(12):1837-1843. doi: 10.1002/humu.24443. Epub 2022 Aug 2. Hum Mutat. 2022. PMID: 35870179
36 results