Amy C. Goldstein, M.D.
Professor of Clinical Pediatrics (Human Genetics)
Core Faculty, The Center of Mitochondrial and Epigenomic Medicine (CMEM), Children’s Hospital of Philadelphia Research Institute
Fellowship Co-Director, Mitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia
Department: Pediatrics
Contact information
Children’s Hospital of Philadelphia
Division of Human Genetics
Department of Pediatrics
Clinical HUB for Collaboration
3500 Civic Center Blvd.
12th Floor
Philadelphia, PA 19104
Division of Human Genetics
Department of Pediatrics
Clinical HUB for Collaboration
3500 Civic Center Blvd.
12th Floor
Philadelphia, PA 19104
Email:
goldsteina@chop.edu
goldsteina@chop.edu
Education:
B.S. (Biology, Psychology)
Syracuse University, 1988.
M.D. (Medicine)
University of Pittsburgh , 1996.
Permanent linkB.S. (Biology, Psychology)
Syracuse University, 1988.
M.D. (Medicine)
University of Pittsburgh , 1996.
Selected Publications
Li R, Lei Y, Rezk A, Diego A Espinoza, Wang J, Feng H, Zhang B, Barcelos IP, Zhang H, Yu J, Huo X, Zhu F, Yang C, Tang H, Goldstein AC, Banwell BL, Hakonarson H, Xu H, Mingueneau M, Sun B, Li H, Bar-Or A. : Oxidative phosphorylation regulates B cell effector cytokines and promotes inflammation in multiple sclerosis. Sci Immunol. 2024.MacMullen LE, George-Sankoh I, Stanley K, McCormick EM, Muraresku CC, Goldstein A, Zolkipli-Cunningham Z, Falk MJ. : Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine. Mol Genet Metab 2024.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. : Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. Res Sq [Preprint]. Sep 2023 Notes: doi: 10.21203/rs.3.rs-3317938/v1.
Morganroth J, Ljungberg L, Goldstein A, Kallish S, Asher SB, Quinn C, Price RS, Karam C. : Pearls and Oy-sters: Case Report of a Patient With Adult-Onset Thymidine Kinase Gene (TK2) Deficiency. Neurology. Aug 2023.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M.: MMPOWER-3 Trial Investigators. Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. Neurology. June 2023.
McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B; NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel; Alves CAPF, Ardissone A, Bai R, de Barcelos IP, Bertini E, Bluske K, Christodoulou J, Clause AR, Copeland WC, Diaz GA, Diodato D, Dulik MC, Enns G, Feigenbaum A, Fratter C, Ghezzi D, Goldstein A, Gropman A, Haas R, Karaa A, Koenig MK, Monteleone B, Parikh S, Duenas BP, Rajkumar R, Saada A, Saneto RP, Sergeant K, Shoffner J, Smith C, Stanley C, Thiffault I, Thorburn D, Walker M, Wallace D, Wong LJ, Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S. : Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Ann Neurol. May 2023.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC. : MELAS: Phenotype Classification into Classic-versus-Atypical Presentations. AJNR Am J Neuroradiol. 44(5): 602-610. May 2023.
Towheed A, Goldstein AC.: Genetics of Mitochondrial Cardiomyopathy. Current Cardiovascular Risk Reports. 17: Feb 2023.
Wongkittichote P, Pantano C, Bogush E, Alves CAP, Hong X, He M, Demczko MM, Ganetzky RD, Goldstein A.: Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers. Mol Genet Metab. 2023 Notes: doi: 10.1016/j.ymgme.2023.107710.
Goldstein A, Falk MJ. : Single Large-Scale Mitochondrial DNA Deletion Syndromes. GeneReviews® [Internet]. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. (eds.). 2023.