Search Results - "Harewood, Louise"

Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours by Harewood, Louise, Kishore, Kamal, Eldridge, Matthew D, Wingett, Steven, Pearson, Danita, Schoenfelder, Stefan, Collins, V Peter, Fraser, Peter

“…Chromosomal rearrangements occur constitutionally in the general population and somatically in the majority of cancers. Detection of balanced rearrangements,…”
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LINE retrotransposons characterize mammalian tissue-specific and evolutionarily dynamic regulatory regions by Roller, Maša, Stamper, Ericca, Villar, Diego, Izuogu, Osagie, Martin, Fergal, Redmond, Aisling M, Ramachanderan, Raghavendra, Harewood, Louise, Odom, Duncan T, Flicek, Paul

“…To investigate the mechanisms driving regulatory evolution across tissues, we experimentally mapped promoters, enhancers, and gene expression in the liver,…”
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Multifocal Epithelial Tumors and Field Cancerization from Loss of Mesenchymal CSL Signaling by Hu, Bing, Castillo, Einar, Harewood, Louise, Ostano, Paola, Reymond, Alexandre, Dummer, Reinhard, Raffoul, Wassim, Hoetzenecker, Wolfram, Hofbauer, Günther F.L., Dotto, G. Paolo

“…It is currently unclear whether tissue changes surrounding multifocal epithelial tumors are a cause or consequence of cancer. Here, we provide evidence that…”
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Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia by 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

“…Hyperdiploidy, i.e. gain of whole chromosomes, is one of the most common genetic features of childhood acute lymphoblastic leukemia (ALL), but its pathogenetic…”
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Topographic analysis of pancreatic cancer by TMA and digital spatial profiling reveals biological complexity with potential therapeutic implications by Bingham, Victoria, Harewood, Louise, McQuaid, Stephen, Craig, Stephanie G., Revolta, Julia F., Kim, Chang S., Srivastava, Shambhavi, Quezada-Marín, Javier, Humphries, Matthew P., Salto-Tellez, Manuel

“…Pancreatic ductal adenocarcinoma (PDAC) remains one of the most lethal human malignancies. Tissue microarrays (TMA) are an established method of high…”
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The effect of translocation-induced nuclear reorganization on gene expression by Harewood, Louise, Schütz, Frédéric, Boyle, Shelagh, Perry, Paul, Delorenzi, Mauro, Bickmore, Wendy A, Reymond, Alexandre

“…Translocations are known to affect the expression of genes at the breakpoints and, in the case of unbalanced translocations, alter the gene copy number…”
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Structural variation-associated expression changes are paralleled by chromatin architecture modifications by Gheldof, Nele, Witwicki, Robert M, Migliavacca, Eugenia, Leleu, Marion, Didelot, Gérard, Harewood, Louise, Rougemont, Jacques, Reymond, Alexandre

“…Copy number variants (CNVs) influence the expression of genes that map not only within the rearrangement, but also to its flanks. To assess the possible…”
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Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations by Harewood, Louise, Liu, Monica, Keeling, Jean, Howatson, Alan, Whiteford, Margo, Branney, Peter, Evans, Margaret, Fantes, Judy, Fitzpatrick, David R

“…Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD) is a relatively common, lethal malformation in humans. Established clinical risk factors include maternal…”
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Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis by Harrison, Christine J., Mazzullo, Helen, Ross, Fiona M., Cheung, Kan L., Gerrard, Gareth, Harewood, Louise, Mehta, Atul, Lachmann, Helen J., Hawkins, Philip N., Orchard, Kim H.

“…Systemic monoclonal immunoglobulin light chain amyloidosis (AL) is associated with clonal plasma cell dyscrasias that are often subtle and non‐proliferating…”
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The impact of chromosomal rearrangements on regulation of gene expression by Harewood, Louise, Fraser, Peter

“…The effects that coding region single-nucleotide polymorphisms or mutations have on gene expression have been well documented, predominantly owing to their…”
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Immunoglobulin/T Cell Receptor Capture Strategy for Comprehensive Immunogenetics by Stewart, James Peter, Gazdova, Jana, Srivastava, Shambhavi, Revolta, Julia, Harewood, Louise, Maurya, Manisha, Darzentas, Nikos, Gonzalez, David

“…In the era of genomic medicine, targeted next generation sequencing strategies (NGS) are becoming increasingly adopted by clinical molecular diagnostic…”
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders by 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

“…The recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related…”
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Karyosequencing: Integrating Genome-Wide and Targeted Sequencing for Comprehensive Diagnosis of Lymphoproliferative Disorders by Stewart, James Peter, Harewood, Louise, Srivastava, Shambhavi, Gazdova, Jana, Maurya, Manisha, Nakjang, Sirintra, Hodges, Elizabeth, Chiecchio, Laura, Cross, Nicholas C.P., Jenner, Matthew W, Catherwood, Mark, Ryan, Sarra, Moorman, Anthony V., Darzentas, Nikos, Gonzalez, David

“…Introduction: Molecular diagnostic testing for lymphoproliferative disorders (LPDs) includes detection of clonal immunoglobulin (IG) and/or T cell receptor…”
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NF-κB-Dependent Lymphoid Enhancer Co-option Promotes Renal Carcinoma Metastasis by Rodrigues, Paulo, Patel, Saroor A, Harewood, Louise, Olan, Ioana, Vojtasova, Erika, Syafruddin, Saiful E, Zaini, M Nazhif, Richardson, Emma K, Burge, Johanna, Warren, Anne Y, Stewart, Grant D, Saeb-Parsy, Kourosh, Samarajiwa, Shamith A, Vanharanta, Sakari

“…Metastases, the spread of cancer cells to distant organs, cause the majority of cancer-related deaths. Few metastasis-specific driver mutations have been…”
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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome by 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

“…We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6…”
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Side effects of genome structural changes by Reymond, Alexandre, Henrichsen, Charlotte N, Harewood, Louise, Merla, Giuseppe

“…The first extensive catalog of structural human variation was recently released. It showed that large stretches of genomic DNA that vary considerably in copy…”
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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology by Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C, Harewood, Louise, Kosmicki, Jack A, Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, Anne M, Alfaiz, Ali Abdullah, van Haelst, Mieke M, Andrieux, Joris, Gusella, James F, Daly, Mark J, Beckmann, Jacques S, Jacquemont, Sébastien, Talkowski, Michael E, Katsanis, Nicholas, Reymond, Alexandre

“…The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes on BMI, head circumference, and brain volume and represent frequent…”
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The Potential of Digital Image Analysis to Determine Tumor Cell Content in Biobanked Formalin-Fixed, Paraffin-Embedded Tissue Samples by Greene, Christine, O'Doherty, Edwina, Abdullahi Sidi, Fatima, Bingham, Victoria, Fisher, Natalie C, Humphries, Matthew P, Craig, Stephanie G, Harewood, Louise, McQuaid, Stephen, Lewis, Claire, James, Jacqueline

“…Best practices dictate that biobanks ensure accurate determination of tumor content before supplying formalin-fixed, paraffin-embedded (FFPE) tissue samples to…”
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Detection of Structural Variants in Circulating Cell-Free DNA from Sarcoma Patients Using Next Generation Sequencing by Mc Connell, Lauren, Gazdova, Jana, Beck, Katja, Srivastava, Shambhavi, Harewood, Louise, Stewart, J P, Hübschmann, Daniel, Stenzinger, Albrecht, Glimm, Hanno, Heilig, Christoph E, Fröhling, Stefan, Gonzalez, David

“…Circulating tumour DNA (ctDNA) analysis using next generation sequencing (NGS) is being implemented in clinical practice for treatment stratification and…”
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Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla by BERRY, Rachel, HAREWOOD, Louise, DAVIES, Jamie A, EVANS, Ronald M, FITZPATRICK, David R, LIMING PEI, FISHER, Malcolm, BROWNSTEIN, David, ROSS, Allyson, ALAYNICK, William A, MOSS, Julie, HASTIE, Nicholas D, HOHENSTEIN, Peter

“…Congenital anomalies of the kidney and urinary tract (CAKUTs) are common disorders of human development affecting the renal parechyma, renal pelvis, ureter,…”
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