Colleen Clarke Muraresku, MS, LCGC

2018

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

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 S6, 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.

Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X. MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Hum Mutat. 2016 Jun;37(6):540-8.

2015

Ganetzky R, Izumi K, Edmondson A, Muraresku CC, Zackai E, Deardorff M, Ganesh J. Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. Am J Med Genet A. 2015 Oct;167A(10):2411-7.

Ahrens-Nicklas RC, Serdaroglu E, Muraresku C, Ficicioglu C. Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level. JIMD Rep. 2015;23:71-5.

2014

Schrier Vergano S, Rao M, McCormack S, Ostrovsky J, Clarke C, Preston J, Bennett MJ, Yudkoff M, Xiao R, Falk MJ. In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans. Mol Genet Metab. 2014 Mar;111(3):331-41.