Spremljaj
Marina T. DiStefano PhD
Marina T. DiStefano PhD
The Broad Institute
Preverjeni e-poštni naslov na broadinstitute.org
Naslov
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Navedeno
Leto
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
7572019
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
7042018
Total synthesis of a functional designer eukaryotic chromosome
N Annaluru, H Muller, LA Mitchell, S Ramalingam, G Stracquadanio, ...
science 344 (6179), 55-58, 2014
6852014
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
5362017
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
4152018
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
1932014
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
1202018
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
1162018
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
1082015
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
1042022
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
922019
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
832019
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
692016
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
692015
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
642013
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
552022
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
MM Li, A Abou Tayoun, M DiStefano, A Pandya, HL Rehm, NH Robin, ...
Genetics in Medicine 24 (7), 1392-1406, 2022
542022
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
522012
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
462019
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
442018
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