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Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Annu Rev Biomed Data Sci. 2024 Apr 25. doi: 10.1146/annurev-biodatasci-102423-112456. Online ahead of print.
Annu Rev Biomed Data Sci. 2024.
PMID: 38663031
Review.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, Bocchini C, Bruford EA, Coffey AJ, Collins H, Cunningham F, Daugherty LC, Einhorn Y, Firth HV, Fitzpatrick DR, Foulger RE, Goldstein J, Hamosh A, Hurles MR, Leigh SE, Leong IUS, Maddirevula S, Martin CL, McDonagh EM, Olry A, Puzriakova A, Radtke K, Ramos EM, Rath A, Riggs ER, Roberts AM, Rodwell C, Snow C, Stark Z, Tahiliani J, Tweedie S, Ware JS, Weller P, Williams E, Wright CF, Yates TM, Rehm HL.
DiStefano MT, et al. Among authors: goehringer s.
Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
Genet Med. 2022.
PMID: 35507016
Free PMC article.
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ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Hunter JE, Jenkins CL, Bulkley JE, Gilmore MJ, Lee K, Pak CM, Wallace KE, Buchanan AH, Foreman AKM, Freed AS, Goehringer S, Manickam K, Meeks NJL, Ramos EM, Shah N, Steiner RD, Subramanian SL, Trotter T, Webber EM, Williams MS, Goddard KAB, Powell BC; ClinGen.
Hunter JE, et al. Among authors: goehringer s.
Genet Med. 2022 Jun;24(6):1328-1335. doi: 10.1016/j.gim.2022.02.019. Epub 2022 Mar 25.
Genet Med. 2022.
PMID: 35341655
Free PMC article.
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Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network.
Williams MS, Taylor CO, Walton NA, Goehringer SR, Aronson S, Freimuth RR, Rasmussen LV, Hall ES, Prows CA, Chung WK, Fedotov A, Nestor J, Weng C, Rowley RK, Wiesner GL, Jarvik GP, Del Fiol G.
Williams MS, et al. Among authors: goehringer sr.
Front Genet. 2019 Oct 29;10:1059. doi: 10.3389/fgene.2019.01059. eCollection 2019.
Front Genet. 2019.
PMID: 31737042
Free PMC article.
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Development of a consent resource for genomic data sharing in the clinical setting.
Riggs ER, Azzariti DR, Niehaus A, Goehringer SR, Ramos EM, Rodriguez LL, Knoppers B, Rehm HL, Martin CL; Clinical Genome Resource Education Working Group.
Riggs ER, et al. Among authors: goehringer sr.
Genet Med. 2019 Jan;21(1):81-88. doi: 10.1038/s41436-018-0017-5. Epub 2018 Jun 13.
Genet Med. 2019.
PMID: 29899502
Free PMC article.
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Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard.
Heale BS, Overby CL, Del Fiol G, Rubinstein WS, Maglott DR, Nelson TH, Milosavljevic A, Martin CL, Goehringer SR, Freimuth R, Williams MS.
Heale BS, et al. Among authors: goehringer sr.
Appl Clin Inform. 2016 Aug 31;7(3):817-31. doi: 10.4338/ACI-2016-04-RA-0058.
Appl Clin Inform. 2016.
PMID: 27579472
Free PMC article.
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ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen.
Rehm HL, et al.
N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27.
N Engl J Med. 2015.
PMID: 26014595
Free PMC article.
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