A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest

por Santorsola, Mariangela, Calabrese, Claudia, Girolimetti, Giulia, Diroma, Maria Angela, Gasparre, Giuseppe, Attimonelli, Marcella
Publicado 2015

Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues

por Bicci, Iacopo, Calabrese, Claudia, Golder, Zoe J, Gomez-Duran, Aurora, Chinnery, Patrick F
Publicado 2021

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

por Diroma, Maria Angela, Calabrese, Claudia, Simone, Domenico, Santorsola, Mariangela, Calabrese, Francesco Maria, Gasparre, Giuseppe, Attimonelli, Marcella
Publicado 2014

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

por Calabrese, Claudia, Simone, Domenico, Diroma, Maria Angela, Santorsola, Mariangela, Guttà, Cristiano, Gasparre, Giuseppe, Picardi, Ernesto, Pesole, Graziano, Attimonelli, Marcella
Publicado 2014

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

por Clima, Rosanna, Preste, Roberto, Calabrese, Claudia, Diroma, Maria Angela, Santorsola, Mariangela, Scioscia, Gaetano, Simone, Domenico, Shen, Lishuang, Gasparre, Giuseppe, Attimonelli, Marcella
Publicado 2017

An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank

por Yonova-Doing, Ekaterina, Calabrese, Claudia, Gomez-Duran, Aurora, Schon, Katherine, Wei, Wei, Karthikeyan, Savita, Chinnery, Patrick F., Howson, Joanna M. M.
Publicado 2021

HmtDB, a genomic resource for mitochondrion-based human variability studies

por Rubino, Francesco, Piredda, Roberta, Calabrese, Francesco Maria, Simone, Domenico, Lang, Martin, Calabrese, Claudia, Petruzzella, Vittoria, Tommaseo-Ponzetta, Mila, Gasparre, Giuseppe, Attimonelli, Marcella
Publicado 2012

Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission

por Zhang, Haixin, Esposito, Marco, Pezet, Mikael G., Aryaman, Juvid, Wei, Wei, Klimm, Florian, Calabrese, Claudia, Burr, Stephen P., Macabelli, Carolina H., Viscomi, Carlo, Saitou, Mitinori, Chiaratti, Marcos R., Stewart, James B., Jones, Nick, Chinnery, Patrick F.
Publicado 2021

A platform independent RNA-Seq protocol for the detection of transcriptome complexity

por Calabrese, Claudia, Mangiulli, Marina, Manzari, Caterina, Paluscio, Anna Maria, Caratozzolo, Mariano Francesco, Marzano, Flaviana, Kurelac, Ivana, D’Erchia, Anna Maria, D’Elia, Domenica, Licciulli, Flavio, Liuni, Sabino, Picardi, Ernesto, Attimonelli, Marcella, Gasparre, Giuseppe, Porcelli, Anna Maria, Pesole, Graziano, Sbisà, Elisabetta, Tullo, Apollonia
Publicado 2013

Heteroplasmic mitochondrial DNA variants in cardiovascular diseases

por Calabrese, Claudia, Pyle, Angela, Griffin, Helen, Coxhead, Jonathan, Hussain, Rafiqul, Braund, Peter S, Li, Linxin, Burgess, Annette, Munroe, Patricia B, Little, Louis, Warren, Helen R, Cabrera, Claudia, Hall, Alistair, Caulfield, Mark J, Rothwell, Peter M, Samani, Nilesh J, Hudson, Gavin, Chinnery, Patrick F.
Publicado 2022

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

por Calabrese, Claudia, Iommarini, Luisa, Kurelac, Ivana, Calvaruso, Maria Antonietta, Capristo, Mariantonietta, Lollini, Pier-Luigi, Nanni, Patrizia, Bergamini, Christian, Nicoletti, Giordano, Giovanni, Carla De, Ghelli, Anna, Giorgio, Valentina, Caratozzolo, Mariano Francesco, Marzano, Flaviana, Manzari, Caterina, Betts, Christine M, Carelli, Valerio, Ceccarelli, Claudio, Attimonelli, Marcella, Romeo, Giovanni, Fato, Romana, Rugolo, Michela, Tullo, Apollonia, Gasparre, Giuseppe, Porcelli, Anna Maria
Publicado 2013

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

por Hathazi, Denisa, Griffin, Helen, Jennings, Matthew J, Giunta, Michele, Powell, Christopher, Pearce, Sarah F, Munro, Benjamin, Wei, Wei, Boczonadi, Veronika, Poulton, Joanna, Pyle, Angela, Calabrese, Claudia, Gomez‐Duran, Aurora, Schara, Ulrike, Pitceathly, Robert D S, Hanna, Michael G, Joost, Kairit, Cotta, Ana, Paim, Julia Filardi, Navarro, Monica Machado, Duff, Jennifer, Mattman, Andre, Chapman, Kristine, Servidei, Serenella, Della Marina, Adela, Uusimaa, Johanna, Roos, Andreas, Mootha, Vamsi, Hirano, Michio, Tulinius, Mar, Giri, Mamta, Hoffmann, Eric P, Lochmüller, Hanns, DiMauro, Salvatore, Minczuk, Michal, Chinnery, Patrick F, Müller, Juliane S, Horvath, Rita
Publicado 2020

Genomic basis for RNA alterations in cancer

por Calabrese, Claudia, Davidson, Natalie R., Demircioğlu, Deniz, Fonseca, Nuno A., He, Yao, Kahles, André, Lehmann, Kjong-Van, Liu, Fenglin, Shiraishi, Yuichi, Soulette, Cameron M., Urban, Lara, Greger, Liliana, Li, Siliang, Liu, Dongbing, Perry, Marc D., Xiang, Qian, Zhang, Fan, Zhang, Junjun, Bailey, Peter, Erkek, Serap, Hoadley, Katherine A., Hou, Yong, Huska, Matthew R., Kilpinen, Helena, Korbel, Jan O., Marin, Maximillian G., Markowski, Julia, Nandi, Tannistha, Pan-Hammarström, Qiang, Pedamallu, Chandra Sekhar, Siebert, Reiner, Stark, Stefan G., Su, Hong, Tan, Patrick, Waszak, Sebastian M., Yung, Christina, Zhu, Shida, Awadalla, Philip, Creighton, Chad J., Meyerson, Matthew, Ouellette, B. F. Francis, Wu, Kui, Yang, Huanming, Brazma, Alvis, Brooks, Angela N., Göke, Jonathan, Rätsch, Gunnar, Schwarz, Roland F., Stegle, Oliver, Zhang, Zemin
Publicado 2020

Author Correction: Genomic basis for RNA alterations in cancer

por Calabrese, Claudia, Davidson, Natalie R., Demircioğlu, Deniz, Fonseca, Nuno A., He, Yao, Kahles, André, Lehmann, Kjong-Van, Liu, Fenglin, Shiraishi, Yuichi, Soulette, Cameron M., Urban, Lara, Greger, Liliana, Li, Siliang, Liu, Dongbing, Perry, Marc D., Xiang, Qian, Zhang, Fan, Zhang, Junjun, Bailey, Peter, Erkek, Serap, Hoadley, Katherine A., Hou, Yong, Huska, Matthew R., Kilpinen, Helena, Korbel, Jan O., Marin, Maximillian G., Markowski, Julia, Nandi, Tannistha, Pan-Hammarström, Qiang, Pedamallu, Chandra Sekhar, Siebert, Reiner, Stark, Stefan G., Su, Hong, Tan, Patrick, Waszak, Sebastian M., Yung, Christina, Zhu, Shida, Awadalla, Philip, Creighton, Chad J., Meyerson, Matthew, Ouellette, B. F. Francis, Wu, Kui, Yang, Huanming, Brazma, Alvis, Brooks, Angela N., Göke, Jonathan, Rätsch, Gunnar, Schwarz, Roland F., Stegle, Oliver, Zhang, Zemin
Publicado 2023

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

por Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M
Publicado 2021