Soma Das to Genetic Variation
This is a "connection" page, showing publications Soma Das has written about Genetic Variation.
Connection Strength
0.738
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Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods. Hum Mutat. 2022 08; 43(8):1097-1113.
Score: 0.126
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Response to Biesecker and Harrison. Genet Med. 2018 12; 20(12):1689-1690.
Score: 0.102
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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Hum Mutat. 2018 11; 39(11):1641-1649.
Score: 0.102
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May; 17(5):405-24.
Score: 0.079
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Exome sequencing and the genetics of intellectual disability. Clin Genet. 2011 Aug; 80(2):117-26.
Score: 0.061
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Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene. Pharmacogenet Genomics. 2008 Aug; 18(8):683-97.
Score: 0.050
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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008 Apr; 10(4):294-300.
Score: 0.049
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Global gene expression as a function of germline genetic variation. Hum Mol Genet. 2005 Jun 15; 14(12):1621-9.
Score: 0.040
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Denaturing high-performance liquid chromatography for mutation detection and genotyping. Methods Mol Biol. 2005; 311:73-96.
Score: 0.039
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Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms. Blood Adv. 2018 01 09; 2(1):36-48.
Score: 0.024
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Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 10; 19(10):1096-1104.
Score: 0.023
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Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver. Hum Mol Genet. 2014 Oct 15; 23(20):5558-69.
Score: 0.019
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.016
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Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin Oncol. 2004 Apr 15; 22(8):1382-8.
Score: 0.009