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Page 1
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Strande NT, et al. Among authors: dwight ss. Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552198 Free PMC article.
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Preston CG, Wright MW, Madhavrao R, Harrison SM, Goldstein JL, Luo X, Wand H, Wulf B, Cheung G, Mandell ME, Tong H, Cheng S, Iacocca MA, Pineda AL, Popejoy AB, Dalton K, Zhen J, Dwight SS, Babb L, DiStefano M, O'Daniel JM, Lee K, Riggs ER, Zastrow DB, Mester JL, Ritter DI, Patel RY, Subramanian SL, Milosavljevic A, Berg JS, Rehm HL, Plon SE, Cherry JM, Bustamante CD, Costa HA; Clinical Genome Resource (ClinGen). Preston CG, et al. Among authors: dwight ss. Genome Med. 2022 Jan 18;14(1):6. doi: 10.1186/s13073-021-01004-8. Genome Med. 2022. PMID: 35039090 Free PMC article.
ClinGen Allele Registry links information about genetic variants.
Pawliczek P, Patel RY, Ashmore LR, Jackson AR, Bizon C, Nelson T, Powell B, Freimuth RR, Strande N, Shah N, Paithankar S, Wright MW, Dwight S, Zhen J, Landrum M, McGarvey P, Babb L, Plon SE, Milosavljevic A; Clinical Genome (ClinGen) Resource. Pawliczek P, et al. Hum Mutat. 2018 Nov;39(11):1690-1701. doi: 10.1002/humu.23637. Hum Mutat. 2018. PMID: 30311374 Free PMC article.
Saccharomyces Genome Database: the genomics resource of budding yeast.
Cherry JM, Hong EL, Amundsen C, Balakrishnan R, Binkley G, Chan ET, Christie KR, Costanzo MC, Dwight SS, Engel SR, Fisk DG, Hirschman JE, Hitz BC, Karra K, Krieger CJ, Miyasato SR, Nash RS, Park J, Skrzypek MS, Simison M, Weng S, Wong ED. Cherry JM, et al. Among authors: dwight ss. Nucleic Acids Res. 2012 Jan;40(Database issue):D700-5. doi: 10.1093/nar/gkr1029. Epub 2011 Nov 21. Nucleic Acids Res. 2012. PMID: 22110037 Free PMC article.
Gene Ontology annotations at SGD: new data sources and annotation methods.
Hong EL, Balakrishnan R, Dong Q, Christie KR, Park J, Binkley G, Costanzo MC, Dwight SS, Engel SR, Fisk DG, Hirschman JE, Hitz BC, Krieger CJ, Livstone MS, Miyasato SR, Nash RS, Oughtred R, Skrzypek MS, Weng S, Wong ED, Zhu KK, Dolinski K, Botstein D, Cherry JM. Hong EL, et al. Among authors: dwight ss. Nucleic Acids Res. 2008 Jan;36(Database issue):D577-81. doi: 10.1093/nar/gkm909. Epub 2007 Nov 3. Nucleic Acids Res. 2008. PMID: 17982175 Free PMC article.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R; ClinGen Inborn Errors of Metabolism Working Group. Zastrow DB, et al. Among authors: dwight ss. Hum Mutat. 2018 Nov;39(11):1569-1580. doi: 10.1002/humu.23649. Hum Mutat. 2018. PMID: 30311390 Free PMC article.
Genome Snapshot: a new resource at the Saccharomyces Genome Database (SGD) presenting an overview of the Saccharomyces cerevisiae genome.
Hirschman JE, Balakrishnan R, Christie KR, Costanzo MC, Dwight SS, Engel SR, Fisk DG, Hong EL, Livstone MS, Nash R, Park J, Oughtred R, Skrzypek M, Starr B, Theesfeld CL, Williams J, Andrada R, Binkley G, Dong Q, Lane C, Miyasato S, Sethuraman A, Schroeder M, Thanawala MK, Weng S, Dolinski K, Botstein D, Cherry JM. Hirschman JE, et al. Among authors: dwight ss. Nucleic Acids Res. 2006 Jan 1;34(Database issue):D442-5. doi: 10.1093/nar/gkj117. Nucleic Acids Res. 2006. PMID: 16381907 Free PMC article.
SGD: Saccharomyces Genome Database.
Cherry JM, Adler C, Ball C, Chervitz SA, Dwight SS, Hester ET, Jia Y, Juvik G, Roe T, Schroeder M, Weng S, Botstein D. Cherry JM, et al. Among authors: dwight ss. Nucleic Acids Res. 1998 Jan 1;26(1):73-9. doi: 10.1093/nar/26.1.73. Nucleic Acids Res. 1998. PMID: 9399804 Free PMC article.
36 results