Not logged in Driver mutations in GNAQ and GNA11 genes as potential targets for precision immunotherapy in uveal melanoma patients Garcia-Mulero, Sandra; Fornelino, Roberto; Punta, Marco; Lise, Stefano; Varela, Mar; del Carpio, Luis P.; Moreno, Rafael; Costa-Garcia, Marcel; Rieder, Dietmar; Trajanoski, Zlatko; Gros, Alena; Alemany, Ramon; Piulats, Josep Maria; Sanz-Pamplona, Rebeca Share Save
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Clinical BRCA1/2 Reversion Analysis Identifies Hotspot Mutations and Predicted Neoantigens Associated with Therapy Resistance Pettitt, Stephen J.; Frankum, Jessica R.; Punta, Marco; Lise, Stefano; Alexander, John; Chen, Yi; Yap, Timothy A.; Haider, Syed; Tutt, Andrew N. J.; Lord, Christopher J. Share Save
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Genome-wide plasma DNA methylation features of metastatic prostate cancer Wu, Anjui; Cremaschi, Paolo; Wetterskog, Daniel; Conteduca, Vincenza; Franceschini, Gian Marco; Kleftogiannis, Dimitrios; Jayaram, Anuradha; Sandhu, Shahneen; Wong, Stephen Q.; Benelli, Matteo; Salvi, Samanta; Gurioli, Giorgia; Feber, Andrew; Pereira, Mariana Buongermino; Wingate, Anna Maria; Gonzalez-Billalebeitia, Enrique; De Giorgi, Ugo; Demichelis, Francesca; Lise, Stefano; Attard, Gerhardt Share Save
Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer (vol 11, 139, 2020) von Loga, Katharina; Woolston, Andrew; Punta, Marco; Barber, Louise J.; Griffiths, Beatrice; Semiannikova, Maria; Spain, Georgia; Challoner, Benjamin; Fenwick, Kerry; Simon, Ronald; Marx, Andreas; Sauter, Guido; Lise, Stefano; Matthews, Nik; Gerlinger, Marco Share Save
Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer von Loga, Katharina; Woolston, Andrew; Punta, Marco; Barber, Louise J.; Griffiths, Beatrice; Semiannikova, Maria; Spain, Georgia; Challoner, Benjamin; Fenwick, Kerry; Simon, Ronald; Marx, Andreas; Sauter, Guido; Lise, Stefano; Matthews, Nik; Gerlinger, Marco Share Save
Pan-genome cfDNA methylation analysis of metastatic prostate cancer Wu, A.; Cremaschi, P.; Wetterskog, D.; Conteduca, V.; Franceschini, G. M.; Gonzalez-Billalebeita, E.; Giorgi, U. D.; Demichelis, F.; Lise, S.; Attard, G. Share Save
In Vivo Modeling of Chemoresistant Neuroblastoma Provides New Insights into Chemorefractory Disease and Metastasis Yogev, Orli; Almeida, Gilberto S.; Barker, Karen T.; George, Sally L.; Kwok, Colin; Campbell, James; Zarowiecki, Magdalena; Kleftogiannis, Dimitrios; Smith, Laura M.; Hallsworth, Albert; Berry, Philip; Mocklinghoff, Till; Webber, Hannah T.; Danielson, Laura S.; Buttery, Bliss; Calton, Elizabeth A.; da Costa, Barbara M.; Poon, Evon; Jamin, Yann; Lise, Stefano; Veal, Gareth J.; Sebire, Neil; Robinson, Simon P.; Anderson, John; Chesler, Louis Share Save
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Tripathy, Ratna; Leca, Ines; van Dijk, Tessa; Weiss, Janneke; van Bon, Bregje W.; Sergaki, Maria Christina; Gstrein, Thomas; Breuss, Martin; Tian, Guoling; Bahi-Buisson, Nadia; Paciorkowski, Alexander R.; Pagnamenta, Alistair T.; Wenninger-Weinzierl, Andrea; Martinez-Reza, Maria Fernanda; Landler, Lukas; Lise, Stefano; Taylor, Jenny C.; Terrone, Gaetano; Vitiello, Giuseppina; Del Giudice, Ennio; Brunetti-Pierri, Nicola; D'Amico, Alessandra; Reymond, Alexandre; Voisin, Norine; Bernstein, Jonathan A.; Farrelly, Ellyn; Kini, Usha; Leonard, Thomas A.; Valence, Stephanie; Burglen, Lydie; Armstrong, Linlea; Hiatt, Susan M.; Cooper, Gregory M.; Aldinger, Kimberly A.; Dobyns, William B.; Mirzaa, Ghayda; Pierson, Tyler Mark; Baas, Frank; Chelly, Jamel; Cowan, Nicholas J.; Keays, David Anthony Share Save
Ultra-Sensitive Mutation Detection and Genome-Wide DNA Copy Number Reconstruction by Error-Corrected Circulating Tumor DNA Sequencing Mansukhani, Sonia; Barber, Louise J.; Kleftogiannis, Dimitrios; Moorcraft, Sing Yu; Davidson, Michael; Woolston, Andrew; Proszek, Paula Zuzanna; Griffiths, Beatrice; Fenwick, Kerry; Herman, Bram; Matthews, Nik; O'Leary, Ben; Hulkki, Sanna; De Castro, David Gonzalez; Patel, Anisha; Wotherspoon, Andrew; Okachi, Aleruchi; Rana, Isma; Begum, Ruwaida; Davies, Matthew N.; Powles, Thomas; von Loga, Katharina; Hubank, Michael; Turner, Nick; Watkins, David; Chau, Ian; Cunningham, David; Lise, Stefano; Starling, Naureen; Gerlinger, Marco Share Save
Microenvironmental niche divergence shapes BRCA1-dysregulated ovarian cancer morphological plasticity Heindl, Andreas; Khan, Adnan Mujahid; Rodrigues, Daniel Nava; Eason, Katherine; Sadanandam, Anguraj; Orbegoso, Cecilia; Punta, Marco; Sottoriva, Andrea; Lise, Stefano; Banerjee, Susana; Yuan, Yinyin Share Save
Lymph node metastasis evolution drives immune evasion and targeted therapy resistance in gastro-esophageal adenocarcinomas (GEAs) Davies, Matthew N.; Barber, Louise J.; Spain, Georgia; Lopes, Filipa; von Loga, Katharina; Griffiths, Beatrice; Woolston, Andrew; Alpar, Donat; Gomez, Marta; Lipinski, Kamil A.; Fenwick, Kerry; Eltahir, Zakaria; Lise, Stefano; Agoston, Emese I.; Harsanyi, Laszlo; Marais, Richard; Wotherspoon, Andrew; Szasz, A.; Springer, Caroline; Gerlinger, Marco Share Save
Carbon dating cancer: defining the chronology of metastatic progression in colorectal cancer Lote, H.; Spiteri, I.; Ermini, L.; Vatsiou, A.; Roy, A.; McDonald, A.; Maka, N.; Balsitis, M.; Bose, N.; Simbolo, M.; Mafficini, A.; Lampis, A.; Hahne, J. C.; Trevisani, F.; Eltahir, Z.; Mentrasti, G.; Findlay, C.; Kalkman, E. A. J.; Punta, M.; Werner, B.; Lise, S.; Aktipis, A.; Maley, C.; Greaves, M.; Braconi, C.; White, J.; Fassan, M.; Scarpa, A.; Sottoriva, A.; Valeri, N. Share Save
Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies Hellner, Karin; Miranda, Fabrizio; Chedom, Donatien Fotso; Herrero-Gonzalez, Sandra; Hayden, Daniel M.; Tearle, Rick; Artibani, Mara; Carrami, Eli M.; Williams, Ruth; Gaitskell, Kezia; Elorbany, Samar; Xu, Ruoyan; Laios, Alex; Buiga, Petronela; Ahmed, Karim; Dhar, Sunanda; Zhang, Rebecca Yu; Campo, Leticia; Myers, Kevin A.; Lozano, Maria; Ruiz-Miro, Maria; Gatius, Sonia; Mota, Alba; Moreno-Bueno, Gema; Matias-Guiu, Xavier; Benitez, Javier; Witty, Lorna; McVean, Gil; Leedham, Simon; Tomlinson, Ian; Drmanac, Radoje; Cazier, Jean-Baptiste; Klein, Robert; Dunne, Kevin; Bast, Robert C., Jr.; Kennedy, Stephen H.; Hassan, Bassim; Lise, Stefano; Jose Garcia, Maria; Peters, Brock A.; Yau, Christopher; Sauka-Spengler, Tatjana; Ahmed, Ahmed Ashour Share Save
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Taylor, Jenny C.; Martin, Hilary C.; Lise, Stefano; Broxholme, John; Cazier, Jean-Baptiste; Rimmer, Andy; Kanapin, Alexander; Lunter, Gerton; Fiddy, Simon; Allan, Chris; Aricescu, A. Radu; Attar, Moustafa; Babbs, Christian; Becq, Jennifer; Beeson, David; Bento, Celeste; Bignell, Patricia; Blair, Edward; Buckle, Veronica J.; Bull, Katherine; Cais, Ondrej; Cario, Holger; Chapel, Helen; Copley, Richard R.; Cornall, Richard; Craft, Jude; Dahan, Karin; Davenport, Emma E.; Dendrou, Calliope; Devuyst, Olivier; Fenwick, Aimee L.; Flint, Jonathan; Fugger, Lars; Gilbert, Rodney D.; Goriely, Anne; Green, Angie; Greger, Ingo H.; Grocock, Russell; Gruszczyk, Anja V.; Hastings, Robert; Hatton, Edouard; Higgs, Doug; Hill, Adrian; Holmes, Chris; Howard, Malcolm; Hughes, Linda; Humburg, Peter; Johnson, David; Karpe, Fredrik; Kingsbury, Zoya; Kini, Usha; Knight, Julian C.; Krohn, Jonathan; Lamble, Sarah; Langman, Craig; Lonie, Lorne; Luck, Joshua; McCarthy, Davis; McGowan, Simon J.; McMullin, Mary Frances; Miller, Kerry A.; Murray, Lisa; Nemeth, Andrea H.; Nesbit, M. Andrew; Nutt, David; Ormondroyd, Elizabeth; Oturai, Annette Bang; Pagnamenta, Alistair; Patel, Smita Y.; Percy, Melanie; Petousi, Nayia; Piazza, Paolo; Piret, Sian E.; Polanco-Echeverry, Guadalupe; Popitsch, Niko; Powrie, Fiona; Pugh, Chris; Quek, Lynn; Robbins, Peter A.; Robson, Kathryn; Russo, Alexandra; Sahgal, Natasha; van Schouwenburg, Pauline A.; Schuh, Anna; Silverman, Earl; Simmons, Alison; Sorensen, Per Soelberg; Sweeney, Elizabeth; Taylor, John; Thakker, Rajesh V.; Tomlinson, Ian; Trebes, Amy; Twigg, Stephen R. F.; Uhlig, Holm H.; Vyas, Paresh; Vyse, Tim; Wall, Steven A.; Watkins, Hugh; Whyte, Michael P.; Witty, Lorna; Wright, Ben; Yau, Chris; Buck, David; Humphray, Sean; Ratcliffe, Peter J.; Bell, John I.; Wilkie, Andrew O. M.; Bentley, David; Donnelly, Peter; McVean, Gilean Share Save
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model Nemeth, Andrea H.; Kwasniewska, Alexandra C.; Lise, Stefano; Schnekenberg, Ricardo Parolin; Becker, Esther B. E.; Bera, Katarzyna D.; Shanks, Morag E.; Gregory, Lorna; Buck, David; Cader, M. Zameel; Talbot, Kevin; De Silva, Rajith; Fletcher, Nicholas; Hastings, Rob; Jayawant, Sandeep; Morrison, Patrick J.; Worth, Paul; Taylor, Malcolm; Tolmie, John; O'Regan, Mary; Consortium, Uk Ataxia; Valentine, Ruth; Packham, Emily; Evans, Julie; Seller, Anneke; Ragoussis, Jiannis Share Save
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene Conti, Valerio; Carabalona, Aurelie; Pallesi-Pocachard, Emilie; Parrini, Elena; Leventer, Richard J.; Buhler, Emmanuelle; McGillivray, George; Michel, Francois J.; Striano, Pasquale; Mei, Davide; Watrin, Francoise; Lise, Stefano; Pagnamenta, Alistair T.; Taylor, Jenny C.; Kini, Usha; Clayton-Smith, Jill; Novara, Francesca; Zuffardi, Orsetta; Dobyns, William B.; Scheffer, Ingrid E.; Robertson, Stephen P.; Berkovic, Samuel F.; Represa, Alfonso; Keays, David A.; Cardoso, Carlos; Guerrini, Renzo Share Save
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease (vol 21, pg 274, 2013) Shanks, Morag E.; Downes, Susan M.; Copley, Richard R.; Lise, Stefano; Broxholme, John; Hudspith, Karl A. Z.; Kwasniewska, Alexandra; Davies, Wayne I. L.; Hankins, Mark W.; Packham, Emily R.; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O. M.; Taylor, Jenny C.; Ragoussis, Jiannis; Nemeth, Andrea H. Share Save
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