SHARON PLON to Sequence Analysis, DNA
This is a "connection" page, showing publications SHARON PLON has written about Sequence Analysis, DNA.
Connection Strength
1.386
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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 06 02; 98(6):1067-1076.
Score: 0.325
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Genetic diagnosis through whole-exome sequencing. N Engl J Med. 2014 03 13; 370(11):1068.
Score: 0.280
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.086
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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2017 05; 19(5):575-582.
Score: 0.084
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Terasaki plates streamline dideoxy sequencing. Biotechniques. 1995 May; 18(5):812.
Score: 0.076
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.073
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Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med. 2013 Nov; 15(11):860-7.
Score: 0.068
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
Score: 0.068
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Next-generation sequencing in the clinic: are we ready? Nat Rev Genet. 2012 11; 13(11):818-24.
Score: 0.064
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Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10.
Score: 0.061
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Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003 May 07; 95(9):669-74.
Score: 0.033
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A Validation Framework for Somatic Copy Number Detection in Targeted Sequencing Panels. J Mol Diagn. 2022 07; 24(7):760-774.
Score: 0.031
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat. 2018 11; 39(11):1553-1568.
Score: 0.024
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Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat. 2018 11; 39(11):1525-1530.
Score: 0.024
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.021
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Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun. 2015 Nov 17; 6:8891.
Score: 0.020
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Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 Feb 05; 5:8278.
Score: 0.019
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BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management. Oncologist. 2013; 18(5):518-24.
Score: 0.016
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Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia. Br J Haematol. 2009 Mar; 144(6):930-2.
Score: 0.012