Search Results - McCormick, Elizabeth

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  1. 1
    Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next

    Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next by McCormick, Elizabeth, Place, Emily, Falk, Marni J.

    Published 2012
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  2. 2
    Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

    Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA by McCormick, Elizabeth M., Kenyon, Lawrence, Falk, Marni J.

    Published 2015
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  3. 3
    Mitochondrial Genomics: A complex field now coming of age

    Mitochondrial Genomics: A complex field now coming of age by McCormick, Elizabeth M., Muraresku, Colleen C., Falk, Marni J.

    Published 2018
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  4. 4
    Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies

    Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies by Muraresku, Colleen C., McCormick, Elizabeth M., Falk, Marni J.

    Published 2018
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  5. 5
    Mitochondrial Disease Genetics Update Recent insights into the Molecular Diagnosis and Expanding Phenotype of Primary Mitochondrial Disease

    Mitochondrial Disease Genetics Update Recent insights into the Molecular Diagnosis and Expanding Phenotype of Primary Mitochondrial Disease by McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Falk, Marni J.

    Published 2018
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  6. 6
    Evaluation of Enoxaparin Dosing and Monitoring in Pediatric Patients at Children's Teaching Hospital

    Evaluation of Enoxaparin Dosing and Monitoring in Pediatric Patients at Children's Teaching Hospital by McCormick, Elizabeth W., Parbuoni, Kristine A., Huynh, Donna, Morgan, Jill A.

    Published 2015
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  7. 7
    Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease

    Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease by Shen, Lishuang, McCormick, Elizabeth M., Muraresk, Colleen C, Falk, Marni J., Gai, Xiaowu

    Published 2020
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  8. 8
    Risk factors for poor bone health in primary mitochondrial disease

    Risk factors for poor bone health in primary mitochondrial disease by Gandhi, Shifa S., Muraresku, Colleen, McCormick, Elizabeth M., Falk, Marni J., McCormack, Shana E.

    Published 2017
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  9. 9
    MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

    MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases by Ganetzky, Rebecca D., Stendel, Claudia, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Goldstein, Amy C., Klopstock, Thomas, Falk, Marni J.

    Published 2019
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  10. 10
    Mitochondrial function requires NGLY1

    Mitochondrial function requires NGLY1 by Kong, Jianping, Peng, Min, Ostrovsky, Julian, Kwon, Young Joon, Oretsky, Olga, McCormick, Elizabeth M., He, Miao, Argon, Yair, Falk, Marni J.

    Published 2017
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  11. 11
    Rationale and design of a randomized controlled trial of home-based primary care versus usual care for high-risk homebound older adults

    Rationale and design of a randomized controlled trial of home-based primary care versus usual care for high-risk homebound older adults by Reckrey, Jennifer M., Brody, Abraham A., McCormick, Elizabeth T., DeCherrie, Linda V., Zhu, Carolyn, Ritchie, Christine S., Siu, Albert L., Egorova, Natali, Federman, Alex D.

    Published 2018
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  12. 12
    Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

    Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function by Li, Dong, Bhoj, Elizabeth, McCormick, Elizabeth, Wang, Fengxiang, Snyder, James, Wang, Tiancheng, Zhao, Yan, Kim, Cecilia, Chiavacci, Rosetta, Tian, Lifeng, Falk, Marni J., Hakonarson, Hakon

    Published 2016
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  13. 13
    Mitochondrial disease patient motivations and barriers to participate in clinical trials

    Mitochondrial disease patient motivations and barriers to participate in clinical trials by Zolkipli-Cunningham, Zarazuela, Xiao, Rui, Stoddart, Amy, McCormick, Elizabeth M., Holberts, Amy, Burrill, Natalie, McCormack, Shana, Williams, Lauren, Wang, Xiaoyan, Thompson, John L. P., Falk, Marni J.

    Published 2018
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  14. 14
    A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression

    A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression by Falk, Marni J., Gai, Xiaowu, Shigematsu, Megumi, Vilardo, Elisa, Takase, Ryuichi, McCormick, Elizabeth, Christian, Thomas, Place, Emily, Pierce, Eric A., Consugar, Mark, Gamper, Howard B., Rossmanith, Walter, Hou, Ya-Ming

    Published 2016
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  15. 15
    Primary Respiratory Chain Disease Causes Tissue-Specific Dysregulation of the Global Transcriptome and Nutrient-Sensing Signaling Network

    Primary Respiratory Chain Disease Causes Tissue-Specific Dysregulation of the Global Transcriptome and Nutrient-Sensing Signaling Network by Zhang, Zhe, Tsukikawa, Mai, Peng, Min, Polyak, Erzsebet, Nakamaru-Ogiso, Eiko, Ostrovsky, Julian, McCormack, Shana, Place, Emily, Clarke, Colleen, Reiner, Gail, McCormick, Elizabeth, Rappaport, Eric, Haas, Richard, Baur, Joseph A., Falk, Marni J.

    Published 2013
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  16. 16
    Understanding the phenotypic spectrum of ASXL-related disease: 10 cases and a review of the literature

    Understanding the phenotypic spectrum of ASXL-related disease: 10 cases and a review of the literature by Cuddapah, Vishnu Anand, Dubbs, Holly A., Adang, Laura, Kugler, Steven L., McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Ortiz-González, Xilma R., McCormack, Shana, Zackai, Elaine, Licht, Daniel J., Falk, Marni J., Marsh, Eric D.

    Published 2021
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  17. 17
    Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

    Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-S... by Gustafson, Margaret A., McCormick, Elizabeth M., Perera, Lalith, Longley, Matthew J., Bai, Renkui, Kong, Jianping, Dulik, Matthew, Shen, Lishuang, Goldstein, Amy C., McCormack, Shana E., Laskin, Benjamin L., Leroy, Bart P., Ortiz-Gonzalez, Xilma R., Ellington, Meredith G., Copeland, William C., Falk, Marni J.

    Published 2019
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  18. 18
    Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

    Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. by McCormick, Elizabeth M., Lott, Marie T., Dulik, Matthew C., Shen, Lishuang, Attimonelli, Marcella, Vitale, Ornella, Karaa, Amel, Bai, Renkui, Pineda-Alvarez, Daniel E., Singh, Larry N., Stanley, Christine M., Wong, Stacey, Bhardwaj, Anshu, Merkurjev, Daria, Mao, Rong, Sondheimer, Neal, Zhang, Shiping, Procaccio, Vincent, Wallace, Douglas C., Gai, Xiaowu, Falk, Marni J.

    Published 2020
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  19. 19
    Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

    Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease by Wang, Jing, Balciuniene, Jorune, Diaz-Miranda, Maria Alejandra, McCormick, Elizabeth M., Eshghi, Erfan Aref, Muir, Alison M., Cao, Kajia, Troiani, Juliana, Moseley, Alicia, Fan, Zhiqian, Zolkipli-Cunningham, Zarazuela, Goldstein, Amy, Ganetzky, Rebecca D., Muraresku, Colleen C., Peterson, James T, Spinner, Nancy B., Wallace, Douglas C., Dulik, Matthew C., Falk, Marni J.

    Published 2022
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  20. 20
    AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

    AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate by Falk, Marni J., Li, Dong, Gai, Xiaowu, McCormick, Elizabeth, Place, Emily, Lasorsa, Francesco M., Otieno, Frederick G., Hou, Cuiping, Kim, Cecilia E., Abdel-Magid, Nada, Vazquez, Lyam, Mentch, Frank D., Chiavacci, Rosetta, Liang, Jinlong, Liu, Xuanzhu, Jiang, Hui, Giannuzzi, Giulia, Marsh, Eric D., Yiran, Guo, Tian, Lifeng, Palmieri, Ferdinando, Hakonarson, Hakon

    Published 2014
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