Stefano Lise
Affiliations: | Computer Science | University College London, London, United Kingdom |
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"Stefano Lise"Bio:
Department of Computer Science, University College London, UK
Cross-listing: Computational Biology Tree
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Publications
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| Pettitt SJ, Frankum JR, Punta M, et al. (2020) Clinical BRCA1/2 reversion analysis identifies hotspot mutations and predicted neoantigens associated with therapy resistance. Cancer Discovery |
| von Loga K, Woolston A, Punta M, et al. (2020) Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer. Nature Communications. 11: 139 |
| Kleftogiannis D, Punta M, Jayaram A, et al. (2019) Identification of single nucleotide variants using position-specific error estimation in deep sequencing data. Bmc Medical Genomics. 12: 115 |
| Tripathy R, Leca I, van Dijk T, et al. (2018) Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron |
| Mansukhani S, Barber LJ, Kleftogiannis D, et al. (2018) Ultra-Sensitive Mutation Detection and Genome-Wide DNA Copy Number Reconstruction by Error-Corrected Circulating Tumor DNA Sequencing. Clinical Chemistry |
| Conti V, Carabalona A, Pallesi-Pocachard E, et al. (2017) A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations. Journal of Visualized Experiments : Jove |
| Davies MN, Barber LJ, Spain G, et al. (2017) Abstract 422: Lymph node metastasis evolution drives immune evasion and targeted therapy resistance in gastro-esophageal adenocarcinomas (GEAs) Cancer Research. 77: 422-422 |
| Hastings R, de Villiers C, Hooper C, et al. (2016) Combination of Whole Genome Sequencing, Linkage and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy with Features of Left Ventricular Non-Compaction. Circulation. Cardiovascular Genetics |
| Piret SE, Gorvin CM, Trinh A, et al. (2016) Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. American Journal of Medical Genetics. Part A |
| Hellner K, Miranda F, Fotso Chedom D, et al. (2016) Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies. Ebiomedicine |