Marina T. DiStefano PhD
Marina T. DiStefano PhD
The Broad Institute
Potvrđena adresa e-pošte na
Total synthesis of a functional designer eukaryotic chromosome
N Annaluru, H Muller, LA Mitchell, S Ramalingam, G Stracquadanio, ...
science 344 (6179), 55-58, 2014
Polygenic prediction of weight and obesity trajectories from birth to adulthood
AV Khera, M Chaffin, KH Wade, S Zahid, J Brancale, R Xia, M Distefano, ...
Cell 177 (3), 587-596. e9, 2019
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
AN Abou Tayoun, T Pesaran, MT DiStefano, A Oza, HL Rehm, ...
Human mutation 39 (11), 1517-1524, 2018
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource
NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ...
The American Journal of Human Genetics 100 (6), 895-906, 2017
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ...
Human mutation 39 (11), 1593-1613, 2018
IL-1 signaling in obesity-induced hepatic lipogenesis and steatosis
KA Negrin, RJ Roth Flach, MT DiStefano, A Matevossian, RH Friedline, ...
PloS one 9 (9), e107265, 2014
ClinVar database of global familial hypercholesterolemia‐associated DNA variants
MA Iacocca, JR Chora, A Carrié, T Freiberger, SE Leigh, JC Defesche, ...
Human mutation 39 (11), 1631-1640, 2018
Endothelial protein kinase MAP4K4 promotes vascular inflammation and atherosclerosis
RJ Roth Flach, A Skoura, A Matevossian, LV Danai, W Zheng, C Cortes, ...
Nature communications 6 (1), 8995, 2015
ClinVar miner: demonstrating utility of a web‐based tool for viewing and filtering ClinVar data
A Henrie, SE Hemphill, N Ruiz‐Schultz, B Cushman, MT DiStefano, ...
Human mutation 39 (8), 1051-1060, 2018
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
MT DiStefano, SE Hemphill, AM Oza, RK Siegert, AR Grant, MY Hughes, ...
Genetics in Medicine 21 (10), 2239-2247, 2019
The gene curation coalition: a global effort to harmonize gene–disease evidence resources
MT DiStefano, S Goehringer, L Babb, FS Alkuraya, J Amberger, M Amin, ...
Genetics in Medicine 24 (8), 1732-1742, 2022
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
J Shen, AM Oza, I Del Castillo, H Duzkale, T Matsunaga, A Pandya, ...
Genetics in medicine 21 (11), 2442-2452, 2019
The lipid droplet protein hypoxia-inducible gene 2 promotes hepatic triglyceride deposition by inhibiting lipolysis
MT DiStefano, LV Danai, RJR Flach, A Chawla, DJ Pedersen, ...
Journal of Biological Chemistry 290 (24), 15175-15184, 2015
β3-Adrenergic receptor stimulation induces E-selectin-mediated adipose tissue inflammation
RJR Flach, A Matevossian, TE Akie, KA Negrin, MT Paul, MP Czech
Journal of Biological Chemistry 288 (4), 2882-2892, 2013
Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion
O Senol-Cosar, RJR Flach, M DiStefano, A Chawla, S Nicoloro, ...
Nature communications 7 (1), 10686, 2016
Unique contribution of IRF-5-Ikaros axis to the B-cell IgG2a response
CM Fang, S Roy, E Nielsen, M Paul, R Maul, A Paun, F Koentgen, ...
Genes & Immunity 13 (5), 421-430, 2012
Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistance
MT DiStefano, RJR Flach, O Senol-Cosar, LV Danai, JV Virbasius, ...
Molecular metabolism 5 (12), 1149-1161, 2016
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
CG Preston, MW Wright, R Madhavrao, SM Harrison, JL Goldstein, X Luo, ...
Genome medicine 14 (1), 6, 2022
ClinGen Hearing Loss Clinical Domain Working Group Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ...
Hum. Mutat 39, 1593-1613, 2018
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement
A Niehaus, DR Azzariti, SM Harrison, MT DiStefano, SE Hemphill, ...
Genetics in Medicine 21 (8), 1699-1701, 2019
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