The impact of artificial intelligence on the current and future practice of clinical cancer genomics

por Greatbatch, Olivia, Garrett, Alice, Snape, Katie
Publicado 2019

A Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer

por King, Bradley, McHugh, Jana, Snape, Katie
Publicado 2021

Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce

por Coad, Beth, Joekes, Katherine, Rudnicka, Alicja, Frost, Amy, Openshaw, Mark Robert, Tatton-Brown, Katrina, Snape, Katie
Publicado 2023

A case of co-existing paraganglioma and thymoma

por Bano, G., Sennik, D., Kenchaiah, M., Kyaw, Ye, Snape, Katie, Tripathi, V., Wilson, P., Vlahos, I., Hunt, I., Hodgson, S.
Publicado 2015

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

por Ruark, Elise, Renwick, Anthony, Clarke, Matthew, Snape, Katie, Ramsay, Emma, Elliott, Anna, Hanks, Sandra, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Publicado 2018

Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease

por Furness, Hugh, Salfity, Louay, Devereux, Johanna, Halliday, Dorothy, Hanson, Helen, Ruddy, Deborah M., Shah, Neha, Sultana, George, Woodward, Emma R., Sandford, Richard N., Snape, Katie M., Maher, Eamonn R.
Publicado 2021

Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease

por Andreou, Avgi, Yngvadottir, Bryndis, Bassaganyas, Laia, Clark, Graeme, Martin, Ezequiel, Whitworth, James, Cornish, Alex J, Houlston, Richard S, Rich, Philip, Egan, Catherine, Hodgson, Shirley V, Warren, Anne Y, Snape, Katie, Maher, Eamonn R
Publicado 2022

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

por Snape, Katie, Hanks, Sandra, Ruark, Elise, Barros-Núňez, Patricio, Elliott, Anna, Murray, Anne, Lane, Andrew H, Shannon, Nora, Callier, Patrick, Chitayat, David, Clayton-Smith, Jill, FitzPatrick, David, Gisselsson, David, Jacquemont, Sebastien, Asakura-Hay, Keiko, Micale, Mark, Tolmie, John, Turnpenny, Peter, Wright, Michael, Douglas, Jenny, Rahman, Nazneen
Publicado 2011

Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

por Maher, Eamonn R., Adlard, Julian, Barwell, Julian, Brady, Angela F., Brennan, Paul, Cook, Jackie, Crawford, Gillian S., Dabir, Tabib, Davidson, Rosemarie, Dyer, Rebecca, Harrison, Rachel, Forde, Claire, Halliday, Dorothy, Hanson, Helen, Hay, Eleanor, Higgs, Jenny, Jones, Mari, Lalloo, Fiona, Miedzybrodzka, Zosia, Ong, Kai Ren, Pelz, Frauke, Ruddy, Deborah, Snape, Katie, Whitworth, James, Sandford, Richard N.
Publicado 2022

The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

por Philpott, Sue, Raikou, Maria, Manchanda, Ranjit, Lockley, Michelle, Singh, Naveena, Scott, Malcolm, Evans, D Gareth, Adlard, Julian, Ahmed, Munaza, Edmondson, Richard, Woodward, Emma Roisin, Lamnisos, Athena, Balega, Janos, Brady, Angela F, Sharma, Aarti, Izatt, Louise, Kulkarni, Anjana, Tripathi, Vishakha, Solomons, Joyce S, Hayes, Kevin, Hanson, Helen, Snape, Katie, Side, Lucy, Skates, Steve, McGuire, Alistair, Rosenthal, Adam N
Publicado 2023

Risk-stratified faecal immunochemical testing (FIT) for urgent colonoscopy in Lynch syndrome during the COVID-19 pandemic

por Lincoln, Anne G, Benton, Sally C, Piggott, Carolyn, Sheikh, Shama Riaz, Beggs, Andrew D, Buckley, Leah, DeSouza, Bianca, East, James E, Sanders, Pete, Lim, Michael, Sheehan, Donal, Snape, Katie, Hanson, Helen, Greenaway, John R, Burn, John, Nylander, David, Hawkins, Menna, Lalloo, Fiona, Green, Kate, Lee, Thomas J, Walker, Julie, Matthews, Gillian, Rutherford, Terry, Sasieni, Peter, Monahan, Kevin J
Publicado 2023

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2011

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Del Vecchio Duarte, Silvana, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2018

Prostate Cancer Risks for Male BRCA1 [Image: see text] and BRCA2 Mutation Carriers: A Prospective Cohort Study()

por Nyberg, Tommy, Frost, Debra, Barrowdale, Daniel, Evans, D. Gareth, Bancroft, Elizabeth, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela F., Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Gregory, Helen, Henderson, Alex, Izatt, Louise, Kennedy, M. John, Miller, Claire, Morrison, Patrick J., Murray, Alex, Ong, Kai-Ren, Porteous, Mary, Pottinger, Caroline, Rogers, Mark T., Side, Lucy, Snape, Katie, Walker, Lisa, Tischkowitz, Marc, Eeles, Rosalind, Easton, Douglas F., Antoniou, Antonis C.
Publicado 2020

Prostate Cancer Risk by BRCA2 Genomic Regions

por Nyberg, Tommy, Frost, Debra, Barrowdale, Daniel, Evans, D. Gareth, Bancroft, Elizabeth, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela F., Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Gregory, Helen, Henderson, Alex, Izatt, Louise, Kennedy, M. John, Miller, Claire, Morrison, Patrick J., Murray, Alex, Ong, Kai-Ren, Porteous, Mary, Pottinger, Caroline, Rogers, Mark T., Side, Lucy, Snape, Katie, Tripathi, Vishakha, Walker, Lisa, Tischkowitz, Marc, Eeles, Rosalind, Easton, Douglas F., Antoniou, Antonis C.
Publicado 2020

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD

por Garrett, Alice, Loveday, Chey, King, Laura, Butler, Samantha, Robinson, Rachel, Horton, Carrie, Yussuf, Amal, Choi, Subin, Torr, Beth, Durkie, Miranda, Burghel, George J., Drummond, James, Berry, Ian, Wallace, Andrew, Callaway, Alison, Eccles, Diana, Tischkowitz, Marc, Tatton-Brown, Katrina, Snape, Katie, McVeigh, Terri, Izatt, Louise, Woodward, Emma R., Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Mazzarotto, Francesco, Whiffin, Nicola, Ware, James, Hanson, Helen, Pesaran, Tina, LaDuca, Holly, Buffet, Alexandre, Maher, Eamonn R., Turnbull, Clare
Publicado 2022

Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study

por Girardi, Fabio, Barnes, Daniel R, Barrowdale, Daniel, Frost, Debra, Brady, Angela F, Miller, Claire, Henderson, Alex, Donaldson, Alan, Murray, Alex, Brewer, Carole, Pottinger, Caroline, Evans, D Gareth, Eccles, Diana, Lalloo, Fiona, Gregory, Helen, Cook, Jackie, Eason, Jacqueline, Adlard, Julian, Barwell, Julian, Ong, Kai Ren, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Tischkowitz, Marc, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Eeles, Ros, Davidson, Rosemarie, Snape, Katie, Easton, Douglas F, Antoniou, Antonis C
Publicado 2018

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

por Andrews, Katrina A, Ascher, David B, Pires, Douglas Eduardo Valente, Barnes, Daniel R, Vialard, Lindsey, Casey, Ruth T, Bradshaw, Nicola, Adlard, Julian, Aylwin, Simon, Brennan, Paul, Brewer, Carole, Cole, Trevor, Cook, Jackie A, Davidson, Rosemarie, Donaldson, Alan, Fryer, Alan, Greenhalgh, Lynn, hodgson, Shirley V, Irving, Richard, Lalloo, Fiona, McConachie, Michelle, McConnell, Vivienne P M, Morrison, Patrick J, Murday, Victoria, Park, Soo-Mi, Simpson, Helen L, Snape, Katie, Stewart, Susan, Tomkins, Susan E, Wallis, Yvonne, Izatt, Louise, Goudie, David, Lindsay, Robert S, Perry, Colin G, Woodward, Emma R, Antoniou, Antonis C, Maher, Eamonn R
Publicado 2018

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

por Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen, Penkett, Chris, Mapeta, Rutendo, Ashford, Sofie, Megy, Karyn, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Armstrong, Ruth, Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Paterson, Joan, Park, Soo-Mi, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., Maher, Eamonn R.
Publicado 2018

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

por Kast, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., Engel, Christoph
Publicado 2023