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Muraresku, Colleen C.
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1

Bridging the clinical-research gap: Harnessing an electroni..:

MacMullen, Laura E. ; George-Sankoh, Ibrahim ; Stanley, Katelynn...
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108348 , 2024
Link: https://doi.org/10.1016/..
 
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2

Expanding Genetic Counselor Roles: A Model for Global Resea..:

Muraresku, Colleen C. ; McCormick, Elizabeth M. ; Rockart, Lydia...
Genes.  15 (2024)  7 - p. 867 , 2024
Link: https://doi.org/10.3390/..
 
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3

Advanced approach for comprehensive mtDNA genome testing in..:

Wang, Jing ; Balciuniene, Jorune ; Diaz-Miranda, Maria Alejandra...
Molecular Genetics and Metabolism.  135 (2022)  1 - p. 93-101 , 2022
Link: https://doi.org/10.1016/..
 
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4

Development of a Mitochondrial Myopathy‐Composite Assessmen..:

Flickinger, Jean ; Fan, Jiaxin ; Wellik, Amanda...
JCSM Clinical Reports.  6 (2021)  4 - p. 109-127 , 2021
Link: https://doi.org/10.1002/..
 
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5

Safety and efficacy of omaveloxolone in patients with mitoc..:

Madsen, Karen L. ; Buch, Astrid E. ; Cohen, Bruce H....
Neurology.  94 (2020)  7 - p. , 2020
Link: https://doi.org/10.1212/..
 
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6

Mitochondrial Disease: Advances in Clinical Diagnosis, Mana..:

Muraresku, Colleen C. ; McCormick, Elizabeth M. ; Falk, Marni J.
Current Genetic Medicine Reports.  6 (2018)  2 - p. 62-72 , 2018
Link: https://doi.org/10.1007/..
 
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7

Mitochondrial Genomics: A Complex Field Now Coming of Age:

McCormick, Elizabeth M. ; Muraresku, Colleen C. ; Falk, Marni J.
Current Genetic Medicine Reports.  6 (2018)  2 - p. 52-61 , 2018
Link: https://doi.org/10.1007/..
 
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8

Best practices to convey complex information to patients wi..:

McCormick, Elizabeth M. ; Muraresku, Colleen C. ; Falk, Marni J.
Mitochondrion.  24 (2015)  - p. S8 , 2015
Link: https://doi.org/10.1016/..
 
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9

Advanced approach for comprehensive mtDNA genome testing in..:

Wang, Jing ; Balciuniene, Jorune ; Diaz-Miranda, Maria Alejandra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8877466/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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10

An ancestral 10-bp repeat expansion in VWA1 causes recessiv..:

Pagnamenta, Alistair T ; Kaiyrzhanov, Rauan ; Zou, Yaqun...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/33559681/.  , 2021
Link: https://doi.org/10.1093/..
 
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11

Safety and efficacy of omaveloxolone in patients with mitoc..:

Madsen, Karen L ; Buch, Astrid E ; Cohen, Bruce H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176297/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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12

MSeqDR: A Centralized Knowledge Repository and Bioinformati..:

Shen, L. (Lishuang) ; Diroma, M.A. (Maria Angela) ; Gonzalez, M. (Michael)...
http://repub.eur.nl/pub/82106.  , 2016
Link: http://repub.eur.nl/pub/..
 
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13

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-D..:

Madeo, Marianna ; Stewart, Michelle ; Sun, Yuyang...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178/.  , 2016
Link: http://www.ncbi.nlm.nih...
 
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14

Utility of genome sequencing in exome‐negative pediatric pa..:

Nomakuchi, Tomoki T. ; Teferedegn, Eden Y. ; Li, Dong...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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15

A homozygous splice variant in ATP5PO, disrupts mitochondri..:

Ganapathi, Mythily ; Friocourt, Gaelle ; Gueguen, Naig...
Journal of Inherited Metabolic Disease.  45 (2022)  5 - p. 996-1012 , 2022
Link: https://doi.org/10.1002/..
 
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