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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Among authors: aziz n. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.
Response to Biesecker and Harrison.
Richards CS, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG/AMP Interpretation of Sequence Variants Work Group 2015. Richards CS, et al. Among authors: aziz n. Genet Med. 2018 Dec;20(12):1689-1690. doi: 10.1038/gim.2018.43. Genet Med. 2018. PMID: 29543230 Free article. No abstract available.
Methods-based proficiency testing in molecular genetic pathology.
Schrijver I, Aziz N, Jennings LJ, Richards CS, Voelkerding KV, Weck KE. Schrijver I, et al. Among authors: aziz n. J Mol Diagn. 2014 May;16(3):283-7. doi: 10.1016/j.jmoldx.2014.02.002. Epub 2014 Mar 18. J Mol Diagn. 2014. PMID: 24650895 Free article.
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM. Gargis AS, et al. Among authors: aziz n. Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. Nat Biotechnol. 2015. PMID: 26154004 Free PMC article. No abstract available.
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.
Lubin IM, Aziz N, Babb LJ, Ballinger D, Bisht H, Church DM, Cordes S, Eilbeck K, Hyland F, Kalman L, Landrum M, Lockhart ER, Maglott D, Marth G, Pfeifer JD, Rehm HL, Roy S, Tezak Z, Truty R, Ullman-Cullere M, Voelkerding KV, Worthey EA, Zaranek AW, Zook JM. Lubin IM, et al. Among authors: aziz n. J Mol Diagn. 2017 May;19(3):417-426. doi: 10.1016/j.jmoldx.2016.12.001. Epub 2017 Mar 18. J Mol Diagn. 2017. PMID: 28315672 Free PMC article.
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.
Schrijver I, Aziz N, Farkas DH, Furtado M, Gonzalez AF, Greiner TC, Grody WW, Hambuch T, Kalman L, Kant JA, Klein RD, Leonard DG, Lubin IM, Mao R, Nagan N, Pratt VM, Sobel ME, Voelkerding KV, Gibson JS. Schrijver I, et al. Among authors: aziz n. J Mol Diagn. 2012 Nov;14(6):525-40. doi: 10.1016/j.jmoldx.2012.04.006. Epub 2012 Aug 20. J Mol Diagn. 2012. PMID: 22918138 Free PMC article.
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.
Khoury MJ, Feero WG, Chambers DA, Brody LC, Aziz N, Green RC, Janssens ACJW, Murray MF, Rodriguez LL, Rutter JL, Schully SD, Winn DM, Mensah GA. Khoury MJ, et al. Among authors: aziz n. PLoS Med. 2018 Aug 2;15(8):e1002631. doi: 10.1371/journal.pmed.1002631. eCollection 2018 Aug. PLoS Med. 2018. PMID: 30071015 Free PMC article.
Correction: A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.
Khoury MJ, Feero WG, Chambers DA, Brody LC, Aziz N, Green RC, Janssens ACJW, Murray MF, Rodriguez LL, Rutter JL, Schully SD, Winn DM, Mensah GA. Khoury MJ, et al. Among authors: aziz n. PLoS Med. 2018 Aug 16;15(8):e1002650. doi: 10.1371/journal.pmed.1002650. eCollection 2018 Aug. PLoS Med. 2018. PMID: 30114233 Free PMC article.
1,140 results