SHARON PLON to Polymorphism, Single Nucleotide
This is a "connection" page, showing publications SHARON PLON has written about Polymorphism, Single Nucleotide.
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.074
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Family-based exome-wide assessment of maternal genetic effects on susceptibility to childhood B-cell acute lymphoblastic leukemia in hispanics. Cancer. 2016 Dec 01; 122(23):3697-3704.
Score: 0.071
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 06 02; 98(6):1051-1066.
Score: 0.069
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Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 Oct; 17(10):831-5.
Score: 0.063
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Statistical analysis of missense mutation classifiers. Hum Mutat. 2013 Feb; 34(2):405-6.
Score: 0.055
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Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2010 Jul; 122(1):281-5.
Score: 0.044
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Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome. Leukemia. 2021 01; 35(1):269-273.
Score: 0.023
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Pathogenic Germline Variants in 10,389 Adult Cancers. Cell. 2018 04 05; 173(2):355-370.e14.
Score: 0.020
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Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility. PLoS One. 2017; 12(8):e0180488.
Score: 0.019
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A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 Oct; 45(10):1226-1231.
Score: 0.014
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Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. Hum Genet. 2008 Jul; 123(6):643-53.
Score: 0.010