Elizabeth M. McCormick, MS, CGC

2019

Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ. Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ. PLoS One. 2019 Sep 3;14(9):e0221829. doi: 10.1371/journal.pone.0221829. eCollection 2019. PMID: 31479473

Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ. MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Hum Mutat. 2019 Feb 14. doi: 10.1002/humu.23723. [Epub ahead of print]

2018

Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231.

McCormick EM, Zolkipli-Cunningham Z, Falk MJ. Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. Curr Opin Pediatr. 2018 Sep 7.[Epub ahead of print]

Muraresku CC, McCormick EM, Falk MJ. "Mitochondrial Disease: Advances in Clinical Diagnosis, Management, Therapeutic Development, and Preventative Strategies. Current Genetic Medicine Reports. 2018 May.

2016

Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ. GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. Am J Hum Genet. 2016 Oct 6;99(4):802-816.

Koene S, Hendriks JC, Dirks I, de Boer L, de Vries MC, Janssen MC, Smuts I, Fung CW, Wong VC, de Coo IR, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJ, Smeitink JA. International Paediatric Mitochondrial Disease Scale. J Inherit Metab Dis. 2016 Sep;39(5):705-12.

Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Am J Hum Genet. 2016 Jun 2;98(6):1249-55.

Li D, Bhoj E, McCormick E, Wang F, Snyder J, Wang T, Zhao Y, Kim C, Chiavacci R, Tian L, Falk MJ, Hakonarson H. Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. Case Rep Genet. 2016;2016:4140780.

Falk MJ, Gai X, Shigematsu M, Vilardo E, Takase R, McCormick E, Christian T, Place E, Pierce EA, Consugar M, Gamper HB, Rossmanith W, Hou YM.  A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. RNA Biol. 2016 May 3;13(5):477-85

2015

McCormick EM, Kenyon L, Falk MJ. Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA. Front Genet. 2015 Jun 5;6:199.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet. 2015 Feb;52(2):104-10.

2014

Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H. AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD Rep. 2014;14:77-85.