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Sean V. Tavtigian
University of Utah
Publications 201
Published on Jun 26, 2019in Human Mutation 4.45
Alin Voskanian (UMBC: University of Maryland, Baltimore County), Panagiotis Katsonis11
Estimated H-index: 11
(BCM: Baylor College of Medicine)
+ 26 AuthorsMax Miller (RU: Rutgers University)
Published on Dec 3, 2018in Genetics in Medicine 8.68
Mark Drost8
Estimated H-index: 8
(LUMC: Leiden University Medical Center),
Yvonne Tiersma1
Estimated H-index: 1
(LUMC: Leiden University Medical Center)
+ 19 AuthorsHelga Westers18
Estimated H-index: 18
(UMCG: University Medical Center Groningen)
To enhance classification of variants of uncertain significance (VUS) in the DNA mismatch repair (MMR) genes in the cancer predisposition Lynch syndrome, we developed the cell-free in vitro MMR activity (CIMRA) assay. Here, we calibrate and validate the assay, enabling its integration with in silico and clinical data. Two sets of previously classified MLH1 and MSH2 variants were selected from a curated MMR gene database, and their biochemical activity determined by the CIMRA assay. The assay was...
Published on Apr 8, 2019in Journal of Medical Genetics 5.90
Amanda B. Spurdle61
Estimated H-index: 61
Stephanie Greville-Heygate3
Estimated H-index: 3
+ 18 AuthorsHelen V. Firth41
Estimated H-index: 41
The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availability of high-throughput massively parallel sequencing platforms, accurate variant interpretation has become a major issue. The vocabulary used to describe single genetic variants in silico, in vitro, in vivo and as a contributor to human disease use...
Published on Jun 1, 2019in Human Mutation 4.45
Cristina Fortuno2
Estimated H-index: 2
Arcadi Cipponi3
Estimated H-index: 3
+ 9 AuthorsDavid M. Thomas49
Estimated H-index: 49
Published on May 27, 2019in Human Mutation 4.45
Michael Parsons9
Estimated H-index: 9
(QIMR: QIMR Berghofer Medical Research Institute),
Emma Tudini (QIMR: QIMR Berghofer Medical Research Institute)+ 214 AuthorsElisa Alducci5
Estimated H-index: 5
Published on Dec 1, 2018in BMC Cancer 2.93
Erin L. Young4
Estimated H-index: 4
(UofU: University of Utah),
Bryony A. Thompson11
Estimated H-index: 11
(University of Melbourne)
+ 13 AuthorsAmanda Gammon12
Estimated H-index: 12
(UofU: University of Utah)
Background Genes associated with hereditary breast and ovarian cancer (HBOC) and colorectal cancer (CRC) predisposition have been shown to play a role in pancreatic cancer susceptibility. Growing evidence suggests that pancreatic cancer may be useful as a sentinel cancer to identify families that could benefit from HBOC or CRC surveillance, but to date pancreatic cancer is only considered an indication for genetic testing in the context of additional family history.
Published on Sep 1, 2018in Genetics in Medicine 8.68
Sean V. Tavtigian55
Estimated H-index: 55
(UofU: University of Utah),
Marc S. Greenblatt29
Estimated H-index: 29
(UVM: University of Vermont)
+ 4 AuthorsLeslie G. Biesecker65
Estimated H-index: 65
(NIH: National Institutes of Health)
We evaluated the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity guidelines for internal consistency and compatibility with Bayesian statistical reasoning. The ACMG/AMP criteria were translated into a naive Bayesian classifier, assuming four levels of evidence and exponentially scaled odds of pathogenicity. We tested this framework with a range of prior probabilities and odds of pathogenicity. We modeled the ACMG/AMP guidelin...
Published on Aug 1, 2018in Human Mutation 4.45
Cristina Fortuno2
Estimated H-index: 2
(QIMR: QIMR Berghofer Medical Research Institute),
Paul A. James31
Estimated H-index: 31
(Royal Melbourne Hospital)
+ 5 AuthorsAmanda B. Spurdle61
Estimated H-index: 61
(QIMR: QIMR Berghofer Medical Research Institute)