Clinical genetics: past, present and future

por Tromans, Eva, Barwell, Julian
Publicado 2022

What hinders minority ethnic access to cancer genetics services and what may help?

por Allford, Anna, Qureshi, Nadeem, Barwell, Julian, Lewis, Celine, Kai, Joe
Publicado 2014

Telomere Instability in Lynch Syndrome Families Leads to Some Shorter Telomeres in MSH2+/- Carriers

por Garrido-Navas, M. Carmen, Tippins, Frances, Barwell, Julian, Hoffman, Jonathan, Codd, Veryan, Royle, Nicola J.
Publicado 2020

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance

por Ozgencil, Meryem, Barwell, Julian, Tischkowitz, Marc, Izatt, Louise, Kesterton, Ian, Simpson, Michael, Sharpe, Paul, de Sepulveda, Paulo, Voisset, Edwige, Solomon, Ellen
Publicado 2021

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

por Han, Ji Hoon, Ryan, Gavin, Guy, Alyson, Liu, Lu, Quinodoz, Mathieu, Helbling, Ingrid, Lai-Cheong, Joey E, Barwell, Julian, Folcher, Marc, McGrath, John A, Moss, Celia, Rivolta, Carlo
Publicado 2022

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

por Evans, D Gareth R, Barwell, Julian, Eccles, Diana M, Collins, Amanda, Izatt, Louise, Jacobs, Chris, Donaldson, Alan, Brady, Angela F, Cuthbert, Andrew, Harrison, Rachel, Thomas, Sue, Howell, Anthony, Miedzybrodzka, Zosia, Murray, Alex
Publicado 2014

Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective

por Molina-Zayas, María, Garrido-Navas, Carmen, García-Puche, Jose Luis, Barwell, Julian, Pedrinaci, Susana, Atienza, Margarita Martínez, García-Linares, Susana, de Haro-Muñoz, Tomás, Lorente, Jose Antonio, Serrano, M. Jose, Poyatos-Andújar, Antonio
Publicado 2022

Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study

por Abbasciano, Riccardo Giuseppe, Mariscalco, Giovanni, Barwell, Julian, Owens, Gareth, Zakkar, Mustafa, Joel‐David, Lathishia, Pathak, Suraj, Adebayo, Adewale, Shannon, Nora, Haines, Rebecca Louise, Aujla, Hardeep, Eagle‐Hemming, Bryony, Kumar, Tracy, Lai, Florence, Wozniak, Marcin, Murphy, Gavin
Publicado 2022

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

Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations

por Bancroft, Elizabeth K., Saya, Sibel, Page, Elizabeth C., Myhill, Kathryn, Thomas, Sarah, Pope, Jennifer, Chamberlain, Anthony, Hart, Rachel, Glover, Wayne, Cook, Jackie, Rosario, Derek J., Helfand, Brian T., Hutten Selkirk, Christina, Davidson, Rosemarie, Longmuir, Mark, Eccles, Diana M., Gadea, Neus, Brewer, Carole, Barwell, Julian, Salinas, Monica, Greenhalgh, Lynn, Tischkowitz, Marc, Henderson, Alex, Evans, David Gareth, Buys, Saundra S., Eeles, Rosalind A., Aaronson, Neil K.
Publicado 2018

Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease

por Grove, Jane I., Lo, Peggy C.K., Shrine, Nick, Barwell, Julian, Wain, Louise V., Tobin, Martin D., Salter, Andrew M., Borkar, Aditi N., Cuevas-Ocaña, Sara, Bennett, Neil, John, Catherine, Ntalla, Ioanna, Jones, Gabriela E., Neal, Christopher P., Thomas, Mervyn G., Kuht, Helen, Gupta, Pankaj, Vemala, Vishwaraj M., Grant, Allister, Adewoye, Adeolu B., Shenoy, Kotacherry T., Balakumaran, Leena K., Hollox, Edward J., Hannan, Nicholas R.F., Aithal, Guruprasad P.
Publicado 2023

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls

por Saya, Sibel, Killick, Emma, Thomas, Sarah, Taylor, Natalie, Bancroft, Elizabeth K., Rothwell, Jeanette, Benafif, Sarah, Dias, Alexander, Mikropoulos, Christos, Pope, Jenny, Chamberlain, Anthony, Gunapala, Ranga, Izatt, Louise, Side, Lucy, Walker, Lisa, Tomkins, Susan, Cook, Jackie, Barwell, Julian, Wiles, Vicki, Limb, Lauren, Eccles, Diana, Leach, Martin O., Shanley, Susan, Gilbert, Fiona J., Hanson, Helen, Gallagher, David, Rajashanker, Bala, Whitehouse, Richard W., Koh, Dow-Mu, Sohaib, S. Aslam, Evans, D. Gareth, Eeles, Rosalind A.
Publicado 2017

Cohort Profile: Extended Cohort for E-health, Environment and DNA (EXCEED)

por John, Catherine, Reeve, Nicola F, Free, Robert C, Williams, Alexander T, Ntalla, Ioanna, Farmaki, Aliki-Eleni, Bethea, Jane, Barton, Linda M, Shrine, Nick, Batini, Chiara, Packer, Richard, Terry, Sarah, Hargadon, Beverley, Wang, Qingning, Melbourne, Carl A, Adams, Emma L, Bee, Catherine E, Harrington, Kyla, Miola, José, Brunskill, Nigel J, Brightling, Christopher E, Barwell, Julian, Wallace, Susan E, Hsu, Ron, Shepherd, David J, Hollox, Edward J, Wain, Louise V, Tobin, Martin D
Publicado 2019

Corrigendum to: Cohort profile: Extended Cohort for E-health, Environment and DNA (EXCEED)

por John, Catherine, Reeve, Nicola F, Free, Robert C, Williams, Alexander T, Ntalla, Ioanna, Farmaki, Aliki-Eleni, Bethea, Jane, Barton, Linda M, Shrine, Nick, Batini, Chiara, Packer, Richard, Terry, Sarah, Hargadon, Beverley, Wang, Qingning, Melbourne, Carl A, Adams, Emma L, Bee, Catherine E, Harrington, Kyla, Miola, José, Brunskill, Nigel J, Brightling, Christopher E, Barwell, Julian, Wallace, Susan E, Hsu, Ron, Shepherd, David J, Hollox, Edward J, Wain, Louise V, Tobin, Martin D
Publicado 2019

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

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

Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)

por Bancroft, Elizabeth K, Saya, Sibel, Brown, Emma, Thomas, Sarah, Taylor, Natalie, Rothwell, Jeanette, Pope, Jennifer, Chamberlain, Anthony, Page, Elizabeth, Benafif, Sarah, Hanson, Helen, Dias, Alexander, Mikropoulos, Christos, Izatt, Louise, Side, Lucy, Walker, Lisa, Donaldson, Alan, Cook, Jackie A, Barwell, Julian, Wiles, Vicki, Limb, Lauren, Eccles, Diana M, Leach, Martin O, Shanley, Susan, Gilbert, Fiona J, Gallagher, David, Rajashanker, Balashanmugam, Whitehouse, Richard W, Koh, Dow-Mu, Sohaib, S Aslam, Evans, D Gareth, Eeles, Rosalind A, Walker, Leslie G
Publicado 2020

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

A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

por Bancroft, Elizabeth K, Page, Elizabeth C, Brook, Mark N, Thomas, Sarah, Taylor, Natalie, Pope, Jennifer, McHugh, Jana, Jones, Ann-Britt, Karlsson, Questa, Merson, Susan, Ong, Kai Ren, Hoffman, Jonathan, Huber, Camilla, Maehle, Lovise, Grindedal, Eli Marie, Stormorken, Astrid, Evans, D Gareth, Rothwell, Jeanette, Lalloo, Fiona, Brady, Angela F, Bartlett, Marion, Snape, Katie, Hanson, Helen, James, Paul, McKinley, Joanne, Mascarenhas, Lyon, Syngal, Sapna, Ukaegbu, Chinedu, Side, Lucy, Thomas, Tessy, Barwell, Julian, Teixeira, Manuel R, Izatt, Louise, Suri, Mohnish, Macrae, Finlay A, Poplawski, Nicola, Chen-Shtoyerman, Rakefet, Ahmed, Munaza, Musgrave, Hannah, Nicolai, Nicola, Greenhalgh, Lynn, Brewer, Carole, Pachter, Nicholas, Spigelman, Allan D, Azzabi, Ashraf, Helfand, Brian T, Halliday, Dorothy, Buys, Saundra, Ramon y Cajal, Teresa, Donaldson, Alan, Cooney, Kathleen A, Harris, Marion, McGrath, John, Davidson, Rosemarie, Taylor, Amy, Cooke, Peter, Myhill, Kathryn, Hogben, Matthew, Aaronson, Neil K, Ardern-Jones, Audrey, Bangma, Chris H, Castro, Elena, Dearnaley, David, Dias, Alexander, Dudderidge, Tim, Eccles, Diana M, Green, Kate, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher S, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar, Khoo, Vincent, Lilja, Hans, Lindeman, Geoffrey J, Lubinski, Jan, Axcrona, Karol, Mikropoulos, Christos, Mitra, Anita V, Moynihan, Clare, Ni Raghallaigh, Holly, Rennert, Gad, Collier, Rebecca, Offman, Judith, Kote-Jarai, Zsofia, Eeles, Rosalind A
Publicado 2021