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Marina T DiStefano, Ph.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS. Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 Oct; 21(10):2409. PMID: 31114025.
    Citations:    
  2. Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN. Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Genet Med. 2019 11; 21(11):2442-2452. PMID: 31160754.
    Citations:    
  3. Khera AV, Chaffin M, Wade KH, Zahid S, Brancale J, Xia R, Distefano M, Senol-Cosar O, Haas ME, Bick A, Aragam KG, Lander ES, Smith GD, Mason-Suares H, Fornage M, Lebo M, Timpson NJ, Kaplan LM, Kathiresan S. Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood. Cell. 2019 04 18; 177(3):587-596.e9. PMID: 31002795.
    Citations:    
  4. DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 10; 21(10):2239-2247. PMID: 30894701.
    Citations:    
  5. Niehaus A, Azzariti DR, Harrison SM, DiStefano MT, Hemphill SE, Senol-Cosar O, Rehm HL. A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement. Genet Med. 2019 08; 21(8):1699-1701. PMID: 30670879.
    Citations:    Fields:    
  6. Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018 11; 39(11):1593-1613. PMID: 30311386.
    Citations:    Fields:    
  7. Iacocca MA, Chora JR, Carrié A, Freiberger T, Leigh SE, Defesche JC, Kurtz CL, DiStefano MT, Santos RD, Humphries SE, Mata P, Jannes CE, Hooper AJ, Wilemon KA, Benlian P, O'Connor R, Garcia J, Wand H, Tichy L, Sijbrands EJ, Hegele RA, Bourbon M, Knowles JW. ClinVar database of global familial hypercholesterolemia-associated DNA variants. Hum Mutat. 2018 11; 39(11):1631-1640. PMID: 30311388.
    Citations:    Fields:    
  8. Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018 11; 39(11):1517-1524. PMID: 30192042.
    Citations: 2     Fields:    
  9. DiStefano MT, Hemphill SE, Cushman BJ, Bowser MJ, Hynes E, Grant AR, Siegert RK, Oza AM, Gonzalez MA, Amr SS, Rehm HL, Abou Tayoun AN. Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants. J Mol Diagn. 2018 11; 20(6):789-801. PMID: 30096381.
    Citations: 2     Fields:    
  10. Henrie A, Hemphill SE, Ruiz-Schultz N, Cushman B, DiStefano MT, Azzariti D, Harrison SM, Rehm HL, Eilbeck K. ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data. Hum Mutat. 2018 08; 39(8):1051-1060. PMID: 29790234.
    Citations: 4     Fields:    
  11. Roth Flach RJ, DiStefano MT, Danai LV, Senol-Cosar O, Yawe JC, Kelly M, Garcia Menendez L, Czech MP. Map4k4 impairs energy metabolism in endothelial cells and promotes insulin resistance in obesity. Am J Physiol Endocrinol Metab. 2017 09 01; 313(3):E303-E313. PMID: 28611026.
    Citations: 1     Fields:    Translation:AnimalsCells
  12. Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet. 2017 Jun 01; 100(6):895-906. PMID: 28552198.
    Citations: 22     Fields:    Translation:Humans
  13. DiStefano MT, Roth Flach RJ, Senol-Cosar O, Danai LV, Virbasius JV, Nicoloro SM, Straubhaar J, Dagdeviren S, Wabitsch M, Gupta OT, Kim JK, Czech MP. Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistance. Mol Metab. 2016 12; 5(12):1149-1161. PMID: 27900258.
    Citations: 4     Fields:    Translation:AnimalsCells
  14. Roth Flach RJ, Danai LV, DiStefano MT, Kelly M, Menendez LG, Jurczyk A, Sharma RB, Jung DY, Kim JH, Kim JK, Bortell R, Alonso LC, Czech MP. Protein Kinase Mitogen-activated Protein Kinase Kinase Kinase Kinase 4 (MAP4K4) Promotes Obesity-induced Hyperinsulinemia. J Biol Chem. 2016 07 29; 291(31):16221-30. PMID: 27226575.
    Citations: 3     Fields:    Translation:AnimalsCells
  15. Senol-Cosar O, Flach RJ, DiStefano M, Chawla A, Nicoloro S, Straubhaar J, Hardy OT, Noh HL, Kim JK, Wabitsch M, Scherer PE, Czech MP. Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion. Nat Commun. 2016 Feb 16; 7:10686. PMID: 26880110.
    Citations: 15     Fields:    Translation:HumansAnimalsCells
  16. DiStefano MT, Danai LV, Roth Flach RJ, Chawla A, Pedersen DJ, Guilherme A, Czech MP. The Lipid Droplet Protein Hypoxia-inducible Gene 2 Promotes Hepatic Triglyceride Deposition by Inhibiting Lipolysis. J Biol Chem. 2015 Jun 12; 290(24):15175-84. PMID: 25922078.
    Citations: 8     Fields:    Translation:AnimalsCells
  17. Negrin KA, Roth Flach RJ, DiStefano MT, Matevossian A, Friedline RH, Jung D, Kim JK, Czech MP. IL-1 signaling in obesity-induced hepatic lipogenesis and steatosis. PLoS One. 2014; 9(9):e107265. PMID: 25216251.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.