关注
Claudia Calabrese
Claudia Calabrese
Illumina ltd
在 illumina.com 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
2952020
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
2152014
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
1742019
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
1182012
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
1052013
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
902015
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
822021
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
722014
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
662017
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
582021
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
442020
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
412012
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
392021
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
382016
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
382014
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
342017
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
302015
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
262021
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
202021
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