Pan-cancer analysis of whole genomes Nature 578 (7793), 82-93, 2020 | 1839* | 2020 |
Genomic basis for RNA alterations in cancer PCAWG Transcriptome Core Group Calabrese Claudia 2 Davidson Natalie R. 3 4 5 ... Nature 578 (7793), 129-136, 2020 | 295 | 2020 |
MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing C Calabrese, D Simone, MA Diroma, M Santorsola, C Gutta, G Gasparre, ... Bioinformatics 30 (21), 3115-3117, 2014 | 215 | 2014 |
A pan-cancer transcriptome analysis reveals pervasive regulation through alternative promoters D Demircioğlu, E Cukuroglu, M Kindermans, T Nandi, C Calabrese, ... Cell 178 (6), 1465-1477. e17, 2019 | 174 | 2019 |
HmtDB, a genomic resource for mitochondrion-based human variability studies F Rubino, R Piredda, FM Calabrese, D Simone, M Lang, C Calabrese, ... Nucleic acids research 40 (D1), D1150-D1159, 2012 | 118 | 2012 |
Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells C Calabrese, L Iommarini, I Kurelac, MA Calvaruso, M Capristo, PL Lollini, ... Cancer & Metabolism 1 (1), 2013 | 105 | 2013 |
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data … MJ Falk, L Shen, M Gonzalez, J Leipzig, MT Lott, APM Stassen, ... Molecular genetics and metabolism 114 (3), 388-396, 2015 | 90 | 2015 |
An atlas of mitochondrial DNA genotype–phenotype associations in the UK Biobank E Yonova-Doing, C Calabrese, A Gomez-Duran, K Schon, W Wei, ... Nature genetics 53 (7), 982-993, 2021 | 82 | 2021 |
Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data MA Diroma, C Calabrese, D Simone, M Santorsola, FM Calabrese, ... BMC genomics 15, 1-15, 2014 | 72 | 2014 |
HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor R Clima, R Preste, C Calabrese, MA Diroma, M Santorsola, G Scioscia, ... Nucleic acids research 45 (D1), D698-D706, 2017 | 66 | 2017 |
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study KR Schon, R Horvath, W Wei, C Calabrese, A Tucci, K Ibañez, T Ratnaike, ... Bmj 375, 2021 | 58 | 2021 |
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency D Hathazi, H Griffin, MJ Jennings, M Giunta, C Powell, SF Pearce, ... The EMBO journal 39 (23), e105364, 2020 | 44 | 2020 |
Searching for a needle in the haystack: comparing six methods to evaluate heteroplasmy in difficult sequence context I Kurelac, M Lang, R Zuntini, C Calabrese, D Simone, S Vicario, ... Biotechnology advances 30 (1), 363-371, 2012 | 41 | 2012 |
Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases N Cai, A Gomez-Duran, E Yonova-Doing, K Kundu, AI Burgess, ZJ Golder, ... Nature medicine 27 (9), 1564-1575, 2021 | 39 | 2021 |
A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest M Santorsola, C Calabrese, G Girolimetti, MA Diroma, G Gasparre, ... Human genetics 135, 121-136, 2016 | 38 | 2016 |
Evidence of association of human papillomavirus with prognosis worsening in glioblastoma multiforme M Vidone, F Alessandrini, G Marucci, A Farnedi, D de Biase, F Ricceri, ... Neuro-oncology 16 (2), 298-302, 2014 | 38 | 2014 |
Germline determinants of the somatic mutation landscape in 2,642 cancer genomes SM Waszak, G Tiao, B Zhu, T Rausch, F Muyas, B Rodriguez-Martin, ... BioRxiv, 208330, 2017 | 34 | 2017 |
A comprehensive characterization of mitochondrial DNA mutations in glioblastoma multiforme M Vidone, R Clima, M Santorsola, C Calabrese, G Girolimetti, I Kurelac, ... The International Journal of Biochemistry & Cell Biology 63, 46-54, 2015 | 30 | 2015 |
Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission H Zhang, M Esposito, MG Pezet, J Aryaman, W Wei, F Klimm, ... Science Advances 7 (50), eabi5657, 2021 | 26 | 2021 |
Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues I Bicci, C Calabrese, ZJ Golder, A Gomez-Duran, PF Chinnery Nucleic Acids Research 49 (22), 12757-12768, 2021 | 20 | 2021 |