Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform
Gonzalez, Michael, Falk, Marni J., Gai, Xiaowu, Postrel, Richard, Schüle, Rebecca, Zuchner, Stephan
Published in Human mutation (01.10.2015)
Published in Human mutation (01.10.2015)
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Journal Article
Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines
Barcelos, Isabella, Shadiack, Edward, Ganetzky, Rebecca D, Falk, Marni J
Published in Current opinion in pediatrics (01.12.2020)
Published in Current opinion in pediatrics (01.12.2020)
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Journal Article
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell, Anselm, Irina, Cohen, Bruce H., Falk, Marni J., Greene, Carol, Gropman, Andrea L., Haas, Richard, Hirano, Michio, Morgan, Phil, Sims, Katherine, Tarnopolsky, Mark, Van Hove, Johan L.K., Wolfe, Lynne, DiMauro, Salvatore
Published in Genetics in medicine (01.09.2015)
Published in Genetics in medicine (01.09.2015)
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Journal Article
Mitochondrial disease patient motivations and barriers to participate in clinical trials
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 in PloS one (17.05.2018)
Published in PloS one (17.05.2018)
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Journal Article
MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases
Hashimoto, Masami, Bacman, Sandra R, Peralta, Susana, Falk, Marni J, Chomyn, Anne, Chan, David C, Williams, Sion L, Moraes, Carlos T
Published in Molecular therapy (01.10.2015)
Published in Molecular therapy (01.10.2015)
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Journal Article
Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease
McCormick, Elizabeth M, Zolkipli-Cunningham, Zarazuela, Falk, Marni J
Published in Current opinion in pediatrics (01.12.2018)
Published in Current opinion in pediatrics (01.12.2018)
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Journal Article
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Li, Dong, Yuan, Hongjie, Ortiz-Gonzalez, Xilma R., Marsh, Eric D., Tian, Lifeng, McCormick, Elizabeth M., Kosobucki, Gabrielle J., Chen, Wenjuan, Schulien, Anthony J., Chiavacci, Rosetta, Tankovic, Anel, Naase, Claudia, Brueckner, Frieder, von Stülpnagel-Steinbeis, Celina, Hu, Chun, Kusumoto, Hirofumi, Hedrich, Ulrike B.S., Elsen, Gina, Hörtnagel, Konstanze, Aizenman, Elias, Lemke, Johannes R., Hakonarson, Hakon, Traynelis, Stephen F., Falk, Marni J.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
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 in Human mutation (01.12.2020)
Published in Human mutation (01.12.2020)
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Journal Article
MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
Ganetzky, Rebecca D., Stendel, Claudia, McCormick, Elizabeth M., Zolkipli‐Cunningham, Zarazuela, Goldstein, Amy C., Klopstock, Thomas, Falk, Marni J.
Published in Human mutation (01.05.2019)
Published in Human mutation (01.05.2019)
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Journal Article
Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases
Mitalipov, Shoukhrat, Amato, Paula, Parry, Samuel, Falk, Marni J.
Published in Cell reports (Cambridge) (22.05.2014)
Published in Cell reports (Cambridge) (22.05.2014)
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Journal Article
Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish
Byrnes, James, Ganetzky, Rebecca, Lightfoot, Richard, Tzeng, Michael, Nakamaru-Ogiso, Eiko, Seiler, Christoph, Falk, Marni J.
Published in Neurochemistry international (01.07.2018)
Published in Neurochemistry international (01.07.2018)
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Journal Article
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
McCormick, Elizabeth M, Keller, Kierstin, Taylor, Julie P, Coffey, Alison J, Shen, Lishuang, Krotoski, Danuta, Harding, Brian, Gai, Xiaowu, Falk, Marni J, Zolkipli-Cunningham, Zarazuela, Rahman, Shamima
Published in Annals of neurology (01.10.2023)
Published in Annals of neurology (01.10.2023)
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Journal Article
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
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 in PloS one (03.09.2019)
Published in PloS one (03.09.2019)
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Journal Article
Human Placental Transcriptome Reveals Critical Alterations in Inflammation and Energy Metabolism with Fetal Sex Differences in Spontaneous Preterm Birth
Lien, Yu-Chin, Zhang, Zhe, Cheng, Yi, Polyak, Erzsebet, Sillers, Laura, Falk, Marni J, Ischiropoulos, Harry, Parry, Samuel, Simmons, Rebecca A
Published in International journal of molecular sciences (23.07.2021)
Published in International journal of molecular sciences (23.07.2021)
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Journal Article
Mitochondrial Replacement Techniques — Implications for the Clinical Community
Falk, Marni J, Decherney, Alan, Kahn, Jeffrey P
Published in The New England journal of medicine (24.03.2016)
Published in The New England journal of medicine (24.03.2016)
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Journal Article