Tina Pesaran to High-Throughput Nucleotide Sequencing
This is a "connection" page, showing publications Tina Pesaran has written about High-Throughput Nucleotide Sequencing.
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0.391
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DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes. Genet Med. 2019 03; 21(3):683-693.
Score: 0.148
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p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients. Cancer Genet. 2019 06; 235-236:21-27.
Score: 0.039
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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: 0.038
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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018 11; 39(11):1581-1592.
Score: 0.038
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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018 11; 39(11):1517-1524.
Score: 0.037
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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: 0.034
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Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4. J Mol Diagn. 2015 Sep; 17(5):576-82.
Score: 0.030
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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014 Nov; 16(11):830-7.
Score: 0.028