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Year Number of Results
2014 2
2015 6
2016 8
2017 15
2018 21
2019 9
2020 3
2021 1
2022 0
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56 results
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel. Fortuno C, et al. Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25. Hum Mutat. 2021. PMID: 33300245 Free PMC article.
Genetic effects on gene expression across human tissues.
GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Lead analysts:; Laboratory, Data Analysis &Coordinating Center (LDACC):; NIH program management:; Biospecimen collection:; Pathology:; eQTL manuscript working group:, Battle A, Brown CD, Engelhardt BE, Montgomery SB. GTEx Consortium, et al. Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277. Nature. 2017. PMID: 29022597 Free PMC article.
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. 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.
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
Homburger JR, Green EM, Caleshu C, Sunitha MS, Taylor RE, Ruppel KM, Metpally RP, Colan SD, Michels M, Day SM, Olivotto I, Bustamante CD, Dewey FE, Ho CY, Spudich JA, Ashley EA. Homburger JR, et al. Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6701-6. doi: 10.1073/pnas.1606950113. Epub 2016 May 31. Proc Natl Acad Sci U S A. 2016. PMID: 27247418 Free PMC article.
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH. Adler A, et al. Circulation. 2020 Feb 11;141(6):418-428. doi: 10.1161/CIRCULATIONAHA.119.043132. Epub 2020 Jan 27. Circulation. 2020. PMID: 31983240 Free PMC article.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R. Lee K, et al. Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650. Hum Mutat. 2018. PMID: 30311375 Free PMC article.
56 results