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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med. 2019 Apr;21(4):987-993. doi: 10.1038/s41436-018-0267-2. Epub 2018 Sep 5.
Genet Med. 2019.
PMID: 30181607
Free PMC article.
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.
Haskell GT, Jensen BC, Samsa LA, Marchuk D, Huang W, Skrzynia C, Tilley C, Seifert BA, Rivera-Muñoz EA, Koller B, Wilhelmsen KC, Liu J, Alhosaini H, Weck KE, Evans JP, Berg JS.
Haskell GT, et al. Among authors: rivera munoz ea.
Circ Cardiovasc Genet. 2017 Jun;10(3):e001443. doi: 10.1161/CIRCGENETICS.116.001443.
Circ Cardiovasc Genet. 2017.
PMID: 28611029
Free PMC article.
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Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.
Brnich SE, Rivera-Muñoz EA, Berg JS.
Brnich SE, et al. Among authors: rivera munoz ea.
Hum Mutat. 2018 Nov;39(11):1531-1541. doi: 10.1002/humu.23609. Epub 2018 Sep 5.
Hum Mutat. 2018.
PMID: 30095857
Free PMC article.
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS.
Rivera-Muñoz EA, et al.
Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645.
Hum Mutat. 2018.
PMID: 30311389
Free PMC article.
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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Bamshad MJ, Rehm HL.
Chong JX, et al. Among authors: rivera munoz ea.
bioRxiv [Preprint]. 2024 Feb 10:2024.02.05.579012. doi: 10.1101/2024.02.05.579012.
bioRxiv. 2024.
PMID: 38370830
Free PMC article.
Preprint.
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium.
Green RC, et al.
Am J Hum Genet. 2016 Jul 7;99(1):246. doi: 10.1016/j.ajhg.2016.06.002.
Am J Hum Genet. 2016.
PMID: 27392080
Free PMC article.
No abstract available.
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium.
Green RC, et al.
Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12.
Am J Hum Genet. 2016.
PMID: 27181682
Free PMC article.
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