Contribution of pks(+) E. coli mutations to colorectal carcinogenesis

por Chen, Bingjie, Ramazzotti, Daniele, Heide, Timon, Spiteri, Inmaculada, Fernandez-Mateos, Javier, James, Chela, Magnani, Luca, Graham, Trevor A., Sottoriva, Andrea
Publicado 2023

The use of whole-exome sequencing to disentangle complex phenotypes

por Williams, Hywel J, Hurst, John R, Ocaka, Louise, James, Chela, Pao, Caroline, Chanudet, Estelle, Lescai, Francesco, Stanescu, Horia C, Kleta, Robert, Rosser, Elisabeth, Bacchelli, Chiara, Beales, Philip
Publicado 2016

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

por Le Quesne Stabej, Polona, James, Chela, Ocaka, Louise, Tekman, Mehmet, Grunewald, Stephanie, Clement, Emma, Stanescu, Horia C., Kleta, Robert, Morrogh, Deborah, Calder, Alistair, Williams, Hywel J., Bitner-Glindzicz, Maria
Publicado 2017

STAG3 truncating variant as the cause of primary ovarian insufficiency

por Le Quesne Stabej, Polona, Williams, Hywel J, James, Chela, Tekman, Mehmet, Stanescu, Horia C, Kleta, Robert, Ocaka, Louise, Lescai, Francesco, Storr, Helen L, Bitner-Glindzicz, Maria, Bacchelli, Chiara, Conway, Gerard S
Publicado 2016

Generation and trapping of a mesoderm biased state of human pluripotency

por Stavish, Dylan, Böiers, Charlotta, Price, Christopher, Frith, Thomas J. R., Halliwell, Jason, Saldaña-Guerrero, Ingrid, Wray, Jason, Brown, John, Carr, Jonathon, James, Chela, Barbaric, Ivana, Andrews, Peter W., Enver, Tariq
Publicado 2020

Immune selection determines tumor antigenicity and influences response to checkpoint inhibitors

por Zapata, Luis, Caravagna, Giulio, Williams, Marc J., Lakatos, Eszter, AbdulJabbar, Khalid, Werner, Benjamin, Chowell, Diego, James, Chela, Gourmet, Lucie, Milite, Salvatore, Acar, Ahmet, Riaz, Nadeem, Chan, Timothy A., Graham, Trevor A., Sottoriva, Andrea
Publicado 2023

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

por Reid, Emma S., Williams, Hywel, Anderson, Glenn, Benatti, Malika, Chong, Kling, James, Chela, Ocaka, Louise, Hemingway, Cheryl, Little, Daniel, Brown, Richard, Parker, Alasdair, Holden, Simon, Footitt, Emma, Rahman, Shamima, Gissen, Paul, Mills, Philippa B., Clayton, Peter T.
Publicado 2017

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency

por McGlacken-Byrne, Sinéad M, Le Quesne Stabej, Polona, Del Valle, Ignacio, Ocaka, Louise, Gagunashvili, Andrey, Crespo, Berta, Moreno, Nadjeda, James, Chela, Bacchelli, Chiara, Dattani, Mehul T, Williams, Hywel J, Kelberman, Dan, Achermann, John C, Conway, Gerard S
Publicado 2021

A Human IPS Model Implicates Embryonic B-Myeloid Fate Restriction as Developmental Susceptibility to B Acute Lymphoblastic Leukemia-Associated ETV6-RUNX1

por Böiers, Charlotta, Richardson, Simon E., Laycock, Emma, Zriwil, Alya, Turati, Virginia A., Brown, John, Wray, Jason P., Wang, Dapeng, James, Chela, Herrero, Javier, Sitnicka, Ewa, Karlsson, Stefan, Smith, Andrew J.H., Jacobsen, Sten Erik W., Enver, Tariq
Publicado 2018

MicroRNA-142 Critically Regulates Group 2 Innate Lymphoid Cell Homeostasis and Function

por Roberts, Luke B., Jowett, Geraldine M., Read, Emily, Zabinski, Tomas, Berkachy, Rita, Selkirk, Murray E., Jackson, Ian, Niazi, Umar, Anandagoda, Nelomi, Araki, Masatake, Araki, Kimi, Kasturiarachchi, Jagath, James, Chela, Enver, Tariq, Nimmo, Rachael, Reis, Rita, Howard, Jane K., Neves, Joana F., Lord, Graham M.
Publicado 2021

The onset of circulation triggers a metabolic switch required for endothelial to hematopoietic transition

por Azzoni, Emanuele, Frontera, Vincent, Anselmi, Giorgio, Rode, Christina, James, Chela, Deltcheva, Elitza M., Demian, Atanasiu S., Brown, John, Barone, Cristiana, Patelli, Arianna, Harman, Joe R., Nicholls, Matthew, Conway, Simon J., Morrissey, Edward, Jacobsen, Sten Eirik W., Sparrow, Duncan B., Harris, Adrian L., Enver, Tariq, de Bruijn, Marella F.T.R.
Publicado 2021

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

por Onoufriadis, Alexandros, Shoemark, Amelia, Munye, Mustafa M, James, Chela T, Schmidts, Miriam, Patel, Mitali, Rosser, Elisabeth M, Bacchelli, Chiara, Beales, Philip L, Scambler, Peter J, Hart, Stephen L, Danke-Roelse, Jeannette E, Sloper, John J, Hull, Sarah, Hogg, Claire, Emes, Richard D, Pals, Gerard, Moore, Anthony T, Chung, Eddie M K, Mitchison, Hannah M
Publicado 2014

Chemotherapy induces canalization of cell state in childhood B-cell precursor acute lymphoblastic leukemia

por Turati, Virginia A., Guerra-Assunção, José Afonso, Potter, Nicola E., Gupta, Rajeev, Ecker, Simone, Daneviciute, Agne, Tarabichi, Maxime, Webster, Amy P., Ding, Chuling, May, Gillian, James, Chela, Brown, John, Conde, Lucia, Russell, Lisa J., Ancliff, Phil, Inglott, Sarah, Cazzaniga, Giovanni, Biondi, Andrea, Hall, Georgina W., Lynch, Mark, Hubank, Mike, Macaulay, Iain, Beck, Stephan, Van Loo, Peter, Jacobsen, Sten E., Greaves, Mel, Herrero, Javier, Enver, Tariq
Publicado 2021

The co-evolution of the genome and epigenome in colorectal cancer

por Heide, Timon, Househam, Jacob, Cresswell, George D., Spiteri, Inmaculada, Lynn, Claire, Mossner, Maximilian, Kimberley, Chris, Fernandez-Mateos, Javier, Chen, Bingjie, Zapata, Luis, James, Chela, Barozzi, Iros, Chkhaidze, Ketevan, Nichol, Daniel, Gunasri, Vinaya, Berner, Alison, Schmidt, Melissa, Lakatos, Eszter, Baker, Ann-Marie, Costa, Helena, Mitchinson, Miriam, Piazza, Rocco, Jansen, Marnix, Caravagna, Giulio, Ramazzotti, Daniele, Shibata, Darryl, Bridgewater, John, Rodriguez-Justo, Manuel, Magnani, Luca, Graham, Trevor A., Sottoriva, Andrea
Publicado 2022

An instructive role for Interleukin-7 receptor α in the development of human B-cell precursor leukemia

por Geron, Ifat, Savino, Angela Maria, Fishman, Hila, Tal, Noa, Brown, John, Turati, Virginia A., James, Chela, Sarno, Jolanda, Hameiri-Grossman, Michal, Lee, Yu Nee, Rein, Avigail, Maniriho, Hillary, Birger, Yehudit, Zemlyansky, Anna, Muler, Inna, Davis, Kara L., Marcu-Malina, Victoria, Mattson, Nicole, Parnas, Oren, Wagener, Rabea, Fischer, Ute, Barata, João T., Jamieson, Catriona H. M., Müschen, Markus, Chen, Chun-Wei, Borkhardt, Arndt, Kirsch, Ilan Richard, Nagler, Arnon, Enver, Tariq, Izraeli, Shai
Publicado 2022

Phenotypic plasticity and genetic control in colorectal cancer evolution

por Househam, Jacob, Heide, Timon, Cresswell, George D., Spiteri, Inmaculada, Kimberley, Chris, Zapata, Luis, Lynn, Claire, James, Chela, Mossner, Maximilian, Fernandez-Mateos, Javier, Vinceti, Alessandro, Baker, Ann-Marie, Gabbutt, Calum, Berner, Alison, Schmidt, Melissa, Chen, Bingjie, Lakatos, Eszter, Gunasri, Vinaya, Nichol, Daniel, Costa, Helena, Mitchinson, Miriam, Ramazzotti, Daniele, Werner, Benjamin, Iorio, Francesco, Jansen, Marnix, Caravagna, Giulio, Barnes, Chris P., Shibata, Darryl, Bridgewater, John, Rodriguez-Justo, Manuel, Magnani, Luca, Sottoriva, Andrea, Graham, Trevor A.
Publicado 2022