Publications by authors named "Marina DiStefano"

17Publications

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.

Cell 2019 04;177(3):587-596.e9

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Division of Cardiology, Massachusetts General Hospital, Boston, MA 02114, USA; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674193029
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http://dx.doi.org/10.1016/j.cell.2019.03.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661115PMC
April 2019

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.

Hum Mutat 2018 11 7;39(11):1517-1524. Epub 2018 Sep 7.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/humu.23626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185798PMC
November 2018

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

J Mol Diagn 2018 11 8;20(6):789-801. Epub 2018 Aug 8.

Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; Genetics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578183009
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http://dx.doi.org/10.1016/j.jmoldx.2018.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204605PMC
November 2018

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.

Hum Mutat 2018 08 21;39(8):1051-1060. Epub 2018 Jun 21.

Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/humu.23555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043391PMC
August 2018

Map4k4 impairs energy metabolism in endothelial cells and promotes insulin resistance in obesity.

Am J Physiol Endocrinol Metab 2017 09 13;313(3):E303-E313. Epub 2017 Jun 13.

Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.

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http://dx.doi.org/10.1152/ajpendo.00037.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625083PMC
September 2017

Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistance.

Mol Metab 2016 12 28;5(12):1149-1161. Epub 2016 Sep 28.

From the Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molmet.2016.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123203PMC
December 2016

The Lipid Droplet Protein Hypoxia-inducible Gene 2 Promotes Hepatic Triglyceride Deposition by Inhibiting Lipolysis.

J Biol Chem 2015 Jun 28;290(24):15175-84. Epub 2015 Apr 28.

From the Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts 01605

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http://www.jbc.org/lookup/doi/10.1074/jbc.M115.650184
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http://dx.doi.org/10.1074/jbc.M115.650184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463459PMC
June 2015

IL-1 signaling in obesity-induced hepatic lipogenesis and steatosis.

PLoS One 2014 12;9(9):e107265. Epub 2014 Sep 12.

Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0107265PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162604PMC
December 2015