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Marina T DiStefano

Showing results (1-10 of 26) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvementAnnie Niehaus, Danielle R Azzariti, Steven M Harrison, et al.
The Journal of Biological Chemistry|April 30, 2015
The Lipid Droplet Protein Hypoxia-inducible Gene 2 Promotes Hepatic Triglyceride Deposition by Inhibiting LipolysisMarina T DiStefano, Laura V Danai, Rachel J Roth Flach, et al.
Human Mutation|September 8, 2018
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterionAhmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, et al.
Human Mutation|May 24, 2018
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar dataAlex Henrie, Sarah E Hemphill, Nicole Ruiz-Schultz, et al.
Plos One|September 13, 2014
IL-1 signaling in obesity-induced hepatic lipogenesis and steatosisKimberly A Negrin, Rachel J Roth Flach, Marina T DiStefano, et al.
American Journal of Physiology. Endocrinology and Metabolism|June 15, 2017
Map4k4 impairs energy metabolism in endothelial cells and promotes insulin resistance in obesityRachel J Roth Flach, Marina T DiStefano, Laura V Danai, et al.
Communications Medicine|May 30, 2026
A comparative survey of functional evidence use in hearing and vision loss geneticsR Arda Inan, Marina T DiStefano, Sami S Amr, et al.
Human Mutation|October 25, 2021
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classificationCourtney Thaxton, Molly E Good, Marina T DiStefano, et al.
Molecular Metabolism|December 1, 2016
Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistanceMarina T DiStefano, Rachel J Roth Flach, Ozlem Senol-Cosar, et al.
The Journal of Molecular Diagnostics : JMD|August 11, 2018
Curating Clinically Relevant Transcripts for the Interpretation of Sequence VariantsMarina T DiStefano, Sarah E Hemphill, Brandon J Cushman, et al.
Pageof 3

Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvementAnnie Niehaus, Danielle R Azzariti, Steven M Harrison, et al.
The Journal of Biological Chemistry|April 30, 2015
The Lipid Droplet Protein Hypoxia-inducible Gene 2 Promotes Hepatic Triglyceride Deposition by Inhibiting LipolysisMarina T DiStefano, Laura V Danai, Rachel J Roth Flach, et al.
Human Mutation|September 8, 2018
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterionAhmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, et al.
Human Mutation|May 24, 2018
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar dataAlex Henrie, Sarah E Hemphill, Nicole Ruiz-Schultz, et al.
Plos One|September 13, 2014
IL-1 signaling in obesity-induced hepatic lipogenesis and steatosisKimberly A Negrin, Rachel J Roth Flach, Marina T DiStefano, et al.
American Journal of Physiology. Endocrinology and Metabolism|June 15, 2017
Map4k4 impairs energy metabolism in endothelial cells and promotes insulin resistance in obesityRachel J Roth Flach, Marina T DiStefano, Laura V Danai, et al.
Communications Medicine|May 30, 2026
A comparative survey of functional evidence use in hearing and vision loss geneticsR Arda Inan, Marina T DiStefano, Sami S Amr, et al.
Human Mutation|October 25, 2021
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classificationCourtney Thaxton, Molly E Good, Marina T DiStefano, et al.
Molecular Metabolism|December 1, 2016
Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistanceMarina T DiStefano, Rachel J Roth Flach, Ozlem Senol-Cosar, et al.
The Journal of Molecular Diagnostics : JMD|August 11, 2018
Curating Clinically Relevant Transcripts for the Interpretation of Sequence VariantsMarina T DiStefano, Sarah E Hemphill, Brandon J Cushman, et al.
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