Structural Variation-Associated Expression Changes Are Paralleled by Chromatin Architecture Modifications

por Gheldof, Nele, Witwicki, Robert M., Migliavacca, Eugenia, Leleu, Marion, Didelot, Gérard, Harewood, Louise, Rougemont, Jacques, Reymond, Alexandre
Publicado 2013

Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours

por Harewood, Louise, Kishore, Kamal, Eldridge, Matthew D., Wingett, Steven, Pearson, Danita, Schoenfelder, Stefan, Collins, V. Peter, Fraser, Peter
Publicado 2017

Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations

por Harewood, Louise, Liu, Monica, Keeling, Jean, Howatson, Alan, Whiteford, Margo, Branney, Peter, Evans, Margaret, Fantes, Judy, FitzPatrick, David R.
Publicado 2010

LINE retrotransposons characterize mammalian tissue-specific and evolutionarily dynamic regulatory regions

por Roller, Maša, Stamper, Ericca, Villar, Diego, Izuogu, Osagie, Martin, Fergal, Redmond, Aisling M., Ramachanderan, Raghavendra, Harewood, Louise, Odom, Duncan T., Flicek, Paul
Publicado 2021

Detection of Structural Variants in Circulating Cell-Free DNA from Sarcoma Patients Using Next Generation Sequencing

por Mc Connell, Lauren, Gazdova, Jana, Beck, Katja, Srivastava, Shambhavi, Harewood, Louise, Stewart, JP, Hübschmann, Daniel, Stenzinger, Albrecht, Glimm, Hanno, Heilig, Christoph E., Fröhling, Stefan, Gonzalez, David
Publicado 2020

Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla

por Berry, Rachel, Harewood, Louise, Pei, Liming, Fisher, Malcolm, Brownstein, David, Ross, Allyson, Alaynick, William A., Moss, Julie, Hastie, Nicholas D., Hohenstein, Peter, Davies, Jamie A., Evans, Ronald M., FitzPatrick, David R.
Publicado 2011

Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia

por Yang, Minjun, Vesterlund, Mattias, Siavelis, Ioannis, Moura-Castro, Larissa H., Castor, Anders, Fioretos, Thoas, Jafari, Rozbeh, Lilljebjörn, Henrik, Odom, Duncan T., Olsson, Linda, Ravi, Naveen, Woodward, Eleanor L., Harewood, Louise, Lehtiö, Janne, Paulsson, Kajsa
Publicado 2019

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

por Zufferey, Flore, Sherr, Elliott H, Beckmann, Noam D, Hanson, Ellen, Maillard, Anne M, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W Andrew, Goin-Kochel, Robin P, Grant, Ellen, Harewood, Louise, Hunter, Jill V, Lebon, Sébastien, Ledbetter, David H, Martin, Christa Lese, Männik, Katrin, Martinet, Danielle, Mukherjee, Pratik, Ramocki, Melissa B, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Spiro, John E, Reymond, Alexandre, Beckmann, Jacques S, Chung, Wendy K, Jacquemont, Sébastien
Publicado 2012

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

por Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M., Williamson, Kathleen A., Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S., Stewart, Fiona, Willoughby, Colin E., McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I., Silva, Eduardo D., Madlom, Mukhlis M., Goudie, David R., Fleck, Brian W., Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D., Gardiner, Carol, Yale, Christopher, Moore, Anthony T., Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L., Tuft, Stephen J., Solano, Juan B., Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E., Shears, Deborah J., Nischal, Ken K., Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I. Karen, Lachlan, Katherine L., Damante, Giuseppe, Morrison, Danny A., van Heyningen, Veronica, FitzPatrick, David R.
Publicado 2016