Výsledky vyhledávání - Claudia Calabrese

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  1. 1
    Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

    Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data Autor Maria Angela Diroma, Claudia Calabrese, Domenico Simone, Mariangela Santorsola, Francesco Maria Calabrese, Giuseppe Gasparre, Marcella Attimonelli

    Vydáno 2014
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  2. 2
    MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

    MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing Autor Claudia Calabrese, Domenico Simone, Maria Angela Diroma, Mariangela Santorsola, Cristiano Guttà, Giuseppe Gasparre, Ernesto Picardi, Graziano Pesole, Marcella Attimonelli

    Vydáno 2014
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  3. 3
    HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor

    HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor Autor Rosanna Clima, Roberto Preste, Claudia Calabrese, Maria Angela Diroma, Mariangela Santorsola, Gaetano Scioscia, Domenico Simone, Li Shen, Giuseppe Gasparre, Marcella Attimonelli

    Vydáno 2016
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  4. 4
    An atlas of mitochondrial DNA genotype–phenotype associations in the UK Biobank

    An atlas of mitochondrial DNA genotype–phenotype associations in the UK Biobank Autor Ekaterina Yonova-Doing, Claudia Calabrese, Aurora Gómez-Durán, Katherine Schon, Wei Wei, Savita Karthikeyan, Patrick F. Chinnery, Joanna M. M. Howson

    Vydáno 2021
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  5. 5
    HmtDB, a genomic resource for mitochondrion-based human variability studies

    HmtDB, a genomic resource for mitochondrion-based human variability studies Autor Francesco Rubino, Roberta Piredda, Francesco Maria Calabrese, Domenico Simone, Martin Lang, Claudia Calabrese, Vittoria Petruzzella, Mila Tommaseo-Ponzetta, Giuseppe Gasparre, Marcella Attimonelli

    Vydáno 2011
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  6. 6
    A Pan-cancer Transcriptome Analysis Reveals Pervasive Regulation through Alternative Promoters

    A Pan-cancer Transcriptome Analysis Reveals Pervasive Regulation through Alternative Promoters Autor Deniz Demircioğlu, Engin Cukuroglu, Martin Kindermans, Tannistha Nandi, Claudia Calabrese, Nuno A. Fonseca, André Kahles, Kjong-Van Lehmann, Oliver Stegle, Alvis Brāzma, Angela N. Brooks, Gunnar Rätsch, Patrick Tan, Jonathan Göke

    Vydáno 2019
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  7. 7
    Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission

    Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission Autor Haixin Zhang, Marco Esposito, Mikael G. Pezet, Juvid Aryaman, Wei Wei, Florian Klimm, Claudia Calabrese, Stephen P. Burr, Carolina H. Macabelli, Carlo Viscomi, Mitinori Saitou, Marcos Roberto Chiaratti, James B. Stewart, Nick S. Jones, Patrick F. Chinnery

    Vydáno 2021
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  8. 8
    Heteroplasmic mitochondrial DNA variants in cardiovascular diseases

    Heteroplasmic mitochondrial DNA variants in cardiovascular diseases Autor Claudia Calabrese, Angela Pyle, Helen Griffin, Jonathan Coxhead, Rafiqul Hussain, Peter S. Braund, Linxin Li, A I Burgess, Patricia B. Munroe, Louis Little, Helen R. Warren, Claudia Cabrera, Alistair S. Hall, Mark J. Caulfield, Peter M. Rothwell, Nilesh J. Samani, Gavin Hudson, Patrick F. Chinnery

    Vydáno 2022
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  9. 9
    Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells

    Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells Autor Claudia Calabrese, Luisa Iommarini, Ivana Kurelac, Maria Antonietta Calvaruso, Mariantonietta Capristo, Pier‐Luigi Lollini, Patrizia Nanni, Christian Bergamini, Giordano Nicoletti, Carla De Giovanni, Anna Ghelli, Valentina Giorgio, Mariano Francesco Caratozzolo, Flaviana Marzano, Caterina Manzari, Christine M. Betts, Valério Carelli, Claudio Ceccarelli, Marcella Attimonelli, G. Cara Romeo, Romana Fato, Michela Rugolo, Apollonia Tullo, Giuseppe Gasparre, Anna Maria Porcelli

    Vydáno 2013
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  10. 10
    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study Autor Katherine Schon, Rita Horváth, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibáñez, Thiloka Ratnaike, Robert D. S. Pitceathly, Enrico Bugiardini, Rosaline C. M. Quinlivan, Michael G. Hanna, Emma Clement, Emma Ashton, John A. Sayer, Paul M. Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah Smithson, Richard Festenstein, Natalie Canham, Mark J. Caulfield, Henry Houlden, Shamima Rahman, Patrick F. Chinnery

    Vydáno 2021
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  11. 11
    Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases

    Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases Autor Na Cai, Aurora Gómez-Durán, Ekaterina Yonova‐Doing, Kousik Kundu, A I Burgess, Zoe Golder, Claudia Calabrese, Marc Jan Bonder, Marta Camacho, Rachael A. Lawson, Lixin Li, Caroline H. Williams‐Gray, Emanuele Di Angelantonio, David J. Roberts, Nick Watkins, Willem H. Ouwehand, Adam S. Butterworth, Isobel D. Stewart, Maik Pietzner, Nicholas J. Wareham, Claudia Langenberg, John Danesh, Klaudia Walter, Peter M. Rothwell, Joanna M. M. Howson, Oliver Stegle, Patrick F. Chinnery, Nicole Soranzo

    Vydáno 2021
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  12. 12
    Genomic basis for RNA alterations in cancer

    Genomic basis for RNA alterations in cancer Autor Claudia Calabrese, Natalie R. Davidson, Deniz Demircioğlu, Nuno A. Fonseca, Yao He, André Kahles, Kjong-Van Lehmann, Fenglin Liu, Yuichi Shiraishi, Cameron M. Soulette, Lara Urban, Claudia Calabrese, Natalie R. Davidson, Deniz Demircioğlu, Nuno A. Fonseca, Yao He, André Kahles, Kjong-Van Lehmann, Fenglin Liu, Yuichi Shiraishi, Cameron M. Soulette, Lara Urban, Liliana Greger, Siliang Li, Dongbing Liu, Marc D. Perry, Qian Xiang, Fan Zhang, Junjun Zhang, Peter J. Bailey, Serap Erkek, Katherine A. Hoadley, Yong Hou, Matthew R. Huska, Helena Kilpinen, Jan O. Korbel, Maximillian G. Marin, Julia Markowski, Tannistha Nandi, Qiang Pan‐Hammarström, Chandra Sekhar Pedamallu, Reiner Siebert, Stefan G. Stark, Hong Su, Patrick Tan, Sebastian M. Waszak, Christina K. Yung, Shida Zhu, Philip Awadalla, Chad J. Creighton, Matthew Meyerson, B. F. Francis Ouellette, Kui Wu, Huanming Yang, Nuno A. Fonseca, André Kahles, Kjong-Van Lehmann, Lara Urban, Cameron M. Soulette, Yuichi Shiraishi, Fenglin Liu, Yao He, Deniz Demircioğlu, Natalie R. Davidson, Claudia Calabrese, Junjun Zhang, Marc D. Perry, Qian Xiang, Liliana Greger, Siliang Li, Dongbing Liu, Stefan G. Stark, Fan Zhang, Samirkumar B. Amin, Peter J. Bailey, Aurélien Chateigner, Isidro Cortés‐Ciriano, Brian Craft, Serap Erkek, Milana Frenkel‐Morgenstern, Mary J. Goldman, Katherine A. Hoadley, Yong Hou, Matthew R. Huska, Ekta Khurana, Helena Kilpinen, Jan O. Korbel, Fabien C. Lamaze, David K. Chang, Xiaobo Li, Xinyue Li, Xingmin Liu, Maximillian G. Marin, Julia Markowski, Tannistha Nandi, Morten M. Nielsen, Akinyemi I. Ojesina, Qiang Pan‐Hammarström, Peter J. Park, Chandra Sekhar Pedamallu

    Vydáno 2020
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  13. 13
    Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

    Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency Autor Denisa Hathazi, Helen Griffin, Matthew J. Jennings, Michele Giunta, Christopher A. Powell, Sarah F. Pearce, Benjamin Munro, Wei Wei, Veronika Boczonadi, Joanna Poulton, Angela Pyle, Claudia Calabrese, Aurora Gómez-Durán, Ulrike Schara, Robert D. S. Pitceathly, Michael G. Hanna, Kairit Joost, Ana Cotta, Júlia Filardi Paim, Mônica Machado Navarro, Jennifer Duff, Andre Mattmann, Kristine Chapman, Serenella Servidei, Johanna Uusimaa, Andreas Roos, Vamsi K. Mootha, Michio Hirano, M. Tulinius, Manta Giri, Eric Hoffmann, Hanns Lochmüller, Salvatore DiMauro, Michal Minczuk, Patrick F. Chinnery, Juliane S. Müller, Rita Horváth

    Vydáno 2020
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  14. 14
    Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

    Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency Autor Denisa Hathazi, Helen Griffin, Matthew J. Jennings, Michele Giunta, Christopher A. Powell, Sarah F. Pearce, Benjamin Munro, Wei Wei, Veronika Boczonadi, Joanna Poulton, Angela Pyle, Claudia Calabrese, Aurora Gómez-Durán, Ulrike Schara, Robert D. S. Pitceathly, Michael G. Hanna, Kairit Joost, Ana Cotta, Júlia Filardi Paim, Mônica Machado Navarro, Jennifer Duff, André Mattman, Kristine Chapman, Serenella Servidei, Adela Della Marina, Johanna Uusimaa, Andreas Roos, Vamsi K. Mootha, Michio Hirano, M. Tulinius, Mamta Giri, Eric Hoffmann, Hanns Lochmüller, Salvatore DiMauro, Michal Minczuk, Patrick F. Chinnery, Juliane Müller, Rita Horváth

    Vydáno 2020
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  15. 15
    Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

    Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for t... Autor Marni J. Falk, Li Shen, Michael Gonzalez, Jeremy Leipzig, Marie T. Lott, Alphons P. M. Stassen, Maria Angela Diroma, Daniel Navarro-Gomez, Philip E. Yeske, Renkui Bai, Richard G. Boles, Virginia Brilhante, David Ralph, Jeana T. DaRe, Robert Shelton, Sharon F. Terry, Zhe Zhang, William C. Copeland, Mannis van Oven, Holger Prokisch, Douglas C. Wallace, Marcella Attimonelli, Danuta Krotoski, Stephan Züchner, Xiaowu Gai, Sherri J. Bale, Jirair K. Bedoyan, Doron M. Behar, Penelope E. Bonnen, Lisa Brooks, Claudia Calabrese, Sarah E. Calvo, Patrick F. Chinnery, John Christodoulou, Deanna M. Church, Rosanna Clima, Bruce H. Cohen, Richard G.H. Cotton, I.F.M. de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory M. Enns, Giuseppe Gasparre, Amy Goldstein, Iris L. Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard Haas, Hákon Hákonarson, Michio Hirano, Douglas S. Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth M. McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki, Aurora Pujol, Melissa A. Parisi, Juan C. Perín, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Reddi Honey, Heidi L. Rehm, Erin Rooney Riggs, Richard J. Rodenburg, Yaffa Rubinstein, Russell P. Saneto, Mariangela Santorsola, Curt Scharfe, Claire A. Sheldon, Eric A. Shoubridge, Domenico Simone, H.J.M. Smeets, Jan Smeitink, Christine M. Stanley, Anu Suomalainen, Mark A. Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne A. Wolfe, Lee-Jun Wong

    Vydáno 2014
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  16. 16
    High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations

    High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations Autor Yiqun Zhang, Fengju Chen, Nuno A. Fonseca, Yao He, Masashi Fujita, Hidewaki Nakagawa, Zemin Zhang, Alvis Brāzma, Samirkumar B. Amin, Philip Awadalla, Peter J. Bailey, Alvis Brāzma, Angela N. Brooks, Claudia Calabrese, Aurélien Chateigner, Isidro Cortés‐Ciriano, Brian Craft, David Craft, Chad J. Creighton, Natalie R. Davidson, Deniz Demircioğlu, Serap Erkek, Nuno A. Fonseca, Milana Frenkel‐Morgenstern, Mary J. Goldman, Liliana Greger, Jonathan Göke, Yao He, Katherine A. Hoadley, Yong Hou, Matthew R. Huska, André Kahles, Ekta Khurana, Helena Kilpinen, Jan O. Korbel, Fabien C. Lamaze, Kjong-Van Lehmann, David K. Chang, Siliang Li, Xiaobo Li, Xinyue Li, Dongbing Liu, Fenglin Liu, Xingmin Liu, Maximillian G. Marin, Julia Markowski, Matthew Meyerson, Tannistha Nandi, Morten Muhlig Nielsen, Akinyemi I. Ojesina, B. F. Francis Ouellette, Qiang Pan‐Hammarström, Peter J. Park, Chandra Sekhar Pedamallu, Jakob Skou Pedersen, Marc D. Perry, Gunnar Rätsch, Roland F. Schwarz, Yuichi Shiraishi, Reiner Siebert, Cameron M. Soulette, Stefan G. Stark, Oliver Stegle, Hong Su, Patrick Tan, Bin Tean Teh, Lara Urban, Jian Wang, Sebastian M. Waszak, Kui Wu, Qian Xiang, Heng Xiong, Sergei Yakneen, Huanming Yang, Chen Ye, Christina K. Yung, Fan Zhang, Junjun Zhang, Xiuqing Zhang, Zemin Zhang, Liangtao Zheng, Jingchun Zhu, Shida Zhu, Kadir C. Akdemir, Eva G. Álvarez, Adrian Baez‐Ortega, Rameen Beroukhim, Paul C. Boutros, David D.L. Bowtell, Benedikt Brors, Kathleen H. Burns, Peter J. Campbell, Kin Chan, Ken Chen, Isidro Cortés‐Ciriano, Ana Dueso-Barroso, Andrew Dunford, Paul A. Edwards, Xavier Estivill, Dariush Etemadmoghadam

    Vydáno 2020
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