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
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants
Bianco, Salvatore Daniele, Parca, Luca, Petrizzelli, Francesco, Biagini, Tommaso, Giovannetti, Agnese, Liorni, Niccolò, Napoli, Alessandro, Carella, Massimo, Procaccio, Vincent, Lott, Marie T, Zhang, Shiping, Vescovi, Angelo Luigi, Wallace, Douglas C, Caputo, Viviana, Mazza, Tommaso
Published in Nature communications (19.08.2023)
Published in Nature communications (19.08.2023)
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Journal Article
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease
Shen, Lishuang, Diroma, Maria Angela, Gonzalez, Michael, Navarro-Gomez, Daniel, Leipzig, Jeremy, Lott, Marie T., van Oven, Mannis, Wallace, Douglas C., Muraresku, Colleen Clarke, Zolkipli-Cunningham, Zarazuela, Chinnery, Patrick F., Attimonelli, Marcella, Zuchner, Stephan, Falk, Marni J., Gai, Xiaowu
Published in Human mutation (01.06.2016)
Published in Human mutation (01.06.2016)
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Journal Article
MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences
Brandon, Marty C, Ruiz-Pesini, Eduardo, Mishmar, Dan, Procaccio, Vincent, Lott, Marie T, Nguyen, Kevin Cuong, Spolim, Syawal, Patil, Upen, Baldi, Pierre, Wallace, Douglas C
Published in Human mutation (2009)
Published in Human mutation (2009)
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Journal Article
Mitochondrial DNA variation and cancer
Kopinski, Piotr K, Singh, Larry N, Zhang, Shiping, Lott, Marie T, Wallace, Douglas C
Published in Nature reviews. Cancer (01.07.2021)
Published in Nature reviews. Cancer (01.07.2021)
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Journal Article
Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups
Starikovskaya, Elena B., Sukernik, Rem I., Derbeneva, Olga A., Volodko, Natalia V., Ruiz‐Pesini, Eduardo, Torroni, Antonio, Brown, Michael D., Lott, Marie T., Hosseini, Seyed H., Huoponen, Kirsi, Wallace, Douglas C.
Published in Annals of human genetics (01.01.2005)
Published in Annals of human genetics (01.01.2005)
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An enhanced MITOMAP with a global mtDNA mutational phylogeny
Ruiz-Pesini, Eduardo, Lott, Marie T, Procaccio, Vincent, Poole, Jason C, Brandon, Marty C, Mishmar, Dan, Yi, Christina, Kreuziger, James, Baldi, Pierre, Wallace, Douglas C
Published in Nucleic acids research (01.01.2007)
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Published in Nucleic acids research (01.01.2007)
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MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion
Shen, Lishuang, Attimonelli, Marcella, Bai, Renkui, Lott, Marie T., Wallace, Douglas C., Falk, Marni J., Gai, Xiaowu
Published in Human mutation (01.06.2018)
Published in Human mutation (01.06.2018)
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Journal Article
enhanced MITOMAP with a global mtDNA mutational phylogeny
Ruiz-Pesini, Eduardo, Lott, Marie T, Procaccio, Vincent, Poole, Jason C, Brandon, Marty C, Mishmar, Dan, Yi, Christina, Kreuziger, James, Baldi, Pierre, Wallace, Douglas C
Published in Nucleic acids research (01.01.2007)
Published in Nucleic acids research (01.01.2007)
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Journal Article
Analysis of Mitochondrial DNA Diversity in the Aleuts of the Commander Islands and Its Implications for the Genetic History of Beringia
Derbeneva, Olga A., Sukernik, Rem I., Volodko, Natalia V., Hosseini, Seyed H., Lott, Marie T., Wallace, Douglas C.
Published in American journal of human genetics (01.08.2002)
Published in American journal of human genetics (01.08.2002)
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Journal Article
Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease
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Book Chapter
Journal Article
MITOMAP: a human mitochondrial genome database—2004 update
Brandon, Marty C., Lott, Marie T., Nguyen, Kevin Cuong, Spolim, Syawal, Navathe, Shamkant B., Baldi, Pierre, Wallace, Douglas C.
Published in Nucleic acids research (01.01.2005)
Published in Nucleic acids research (01.01.2005)
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Journal Article
Toward a mtDNA locus-specific mutation database using the LOVD platform
Elson, Joanna L., Sweeney, Mary G., Procaccio, Vincent, Yarham, John W., Salas, Antonio, Kong, Qing-Peng, van der Westhuizen, Francois H., Pitceathly, Robert D.S., Thorburn, David R., Lott, Marie T., Wallace, Douglas C., Taylor, Robert W., McFarland, Robert
Published in Human mutation (01.09.2012)
Published in Human mutation (01.09.2012)
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Journal Article
Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease
Corral-Debrinski, M, Stepien, G, Shoffner, J M, Lott, M T, Kanter, K, Wallace, D C
Published in JAMA : the journal of the American Medical Association (02.10.1991)
Published in JAMA : the journal of the American Medical Association (02.10.1991)
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Journal Article
Mitochondrial DNA Variants Observed in Alzheimer Disease and Parkinson Disease Patients
Shoffner, John M., Brown, Michael D., Torroni, Antonio, Lott, Marie T., Cabell, Margaret F., Mirra, Suzanne S., Beal, M.Flint, Yang, Chi-Chuan, Gearing, Marla, Salvo, Rino, Watts, Ray L., Juncos, Jorge L., Hansen, Lawrence A., Crain, Barbara J., Fayad, Michel, Reckord, Calvin L., Wallace, Douglas C.
Published in Genomics (San Diego, Calif.) (01.07.1993)
Published in Genomics (San Diego, Calif.) (01.07.1993)
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Journal Article
Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy
Wallace, Douglas C., Singh, Gurparkash, Lott, Marie T., Hodge, Judy A., Schurr, Theodore G., Angela M. S. Lezza, Elsas, Louis J., Nikoskelainen, Eeva K.
Published in Science (American Association for the Advancement of Science) (09.12.1988)
Published in Science (American Association for the Advancement of Science) (09.12.1988)
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Journal Article
Mitochondrial DNA mutations in human degenerative diseases and aging
Wallace, Douglas C., Shoffner, John M., Trounce, Ian, Brown, Michael D., Ballinger, Scott W., Corral-Debrinski, Marisol, Horton, Terzah, Jun, Albert S., Lott, Marie T.
Published in Biochimica et biophysica acta (24.05.1995)
Published in Biochimica et biophysica acta (24.05.1995)
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