Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers
McCrorie, Alan D, Ashfield, Susannah, Begley, Aislinn, Mcilmunn, Colin, Morrison, Patrick J, Boyd, Clinton, Eccles, Bryony, Greville‐Heygate, Stephanie, Copson, Ellen R, Cutress, Ramsey I, Eccles, Diana M, Savage, Kienan I, McIntosh, Stuart A
Published in The journal of pathology. Clinical research (01.04.2020)
Published in The journal of pathology. Clinical research (01.04.2020)
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Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study
Copson, Ellen R, Maishman, Tom C, Tapper, Will J, Cutress, Ramsey I, Greville-Heygate, Stephanie, Altman, Douglas G, Eccles, Bryony, Gerty, Sue, Durcan, Lorraine T, Jones, Louise, Evans, D Gareth, Thompson, Alastair M, Pharoah, Paul, Easton, Douglas F, Dunning, Alison M, Hanby, Andrew, Lakhani, Sunil, Eeles, Ros, Gilbert, Fiona J, Hamed, Hisham, Hodgson, Shirley, Simmonds, Peter, Stanton, Louise, Eccles, Diana M
Published in The lancet oncology (01.02.2018)
Published in The lancet oncology (01.02.2018)
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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
Parry, David A., Martin, Carol-Anne, Greene, Philip, Marsh, Joseph A., Blyth, Moira, Cox, Helen, Donnelly, Deirdre, Greenhalgh, Lynn, Greville-Heygate, Stephanie, Harrison, Victoria, Lachlan, Katherine, McKenna, Caoimhe, Quigley, Alan J., Rea, Gillian, Robertson, Lisa, Suri, Mohnish, Jackson, Andrew P.
Published in Genetics in medicine (01.02.2021)
Published in Genetics in medicine (01.02.2021)
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Hereditary Breast and Ovarian Cancer Testing in the Genomic Era
Greville-Heygate, Stephanie L, Eccles, Diana M, Side, Lucy E
Published in JAMA oncology (01.01.2019)
Published in JAMA oncology (01.01.2019)
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Journal Article
Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer
Greville-Heygate, Stephanie L, Maishman, Tom, Tapper, William J, Cutress, Ramsey I, Copson, Ellen, Dunning, Alison M, Haywood, Linda, Jones, Louise J, Eccles, Diana M
Published in JCO precision oncology (04.05.2020)
Published in JCO precision oncology (04.05.2020)
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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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Journal Article
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana
Published in American journal of human genetics (05.03.2020)
Published in American journal of human genetics (05.03.2020)
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Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
Pengelly, Reuben J, Greville-Heygate, Stephanie, Schmidt, Susanne, Seaby, Eleanor G, Jabalameli, M Reza, Mehta, Sarju G, Parker, Michael J, Goudie, David, Fagotto-Kaufmann, Christine, Mercer, Catherine, Debant, Anne, Ennis, Sarah, Baralle, Diana
Published in Journal of medical genetics (01.11.2016)
Published in Journal of medical genetics (01.11.2016)
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UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2
Hanson, Helen, Kulkarni, Anjana, Loong, Lucy, Kavanaugh, Grace, Torr, Bethany, Allen, Sophie, Ahmed, Munaza, Antoniou, Antonis C, Cleaver, Ruth, Dabir, Tabib, Evans, D Gareth, Golightly, Ellen, Jewell, Rosalyn, Kohut, Kelly, Manchanda, Ranjit, Murray, Alex, Murray, Jennie, Ong, Kai-Ren, Rosenthal, Adam N, Woodward, Emma Roisin, Eccles, Diana M, Turnbull, Clare, Tischkowitz, Marc, Lalloo, Fiona, Barwell, Julian, Berlin, Cheryl, Bolton, Helen, Brady, Angela, Cadoo, Karen, Carley, Helena, Claber, Oonagh, Cook, Jackie, Copson, Ellen, Davidson, Rosemarie, Donaldson, Alan, Durkie, Miranda, George, Angela, Ghaem-Maghami, Sadaf, Mein, Rachael, Greville-Heygate, Stephanie, Goudie, David, Hamilton, Sarah, Harrison, Rachel, Hawkes, Lara, Henwood, Kate, Holloway, Debby, Irvine, Tracey, Iyer, Rema, Kamran, Atiyah, Kemp, Zoe, Miedzybrodzka, Zosia, McVeigh, Terri, Davies, Selina Moss, Musgrave, Hannah, Nisbet, Sian, Pharoah, Paul, Platt, Marie-Claire, Rafi, Imran, Rea, Gillian, Sahota, Sukhwinder, Sharma, Aarti, Side, Lucy, Smith, Katherine, Snape, Katie, majd, Hooman Soleymani, Speight, Bev, Tailor, Anil, Teh, William, Williamson, Karin
Published in Journal of medical genetics (01.05.2023)
Published in Journal of medical genetics (01.05.2023)
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Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report
Spurdle, Amanda B, Greville-Heygate, Stephanie, Antoniou, Antonis C, Brown, Melissa, Burke, Leslie, de la Hoya, Miguel, Domchek, Susan, Dörk, Thilo, Firth, Helen V, Monteiro, Alvaro N, Mensenkamp, Arjen, Parsons, Michael T, Radice, Paolo, Robson, Mark, Tischkowitz, Marc, Tudini, Emma, Turnbull, Clare, Vreeswijk, Maaike PG, Walker, Logan C, Tavtigian, Sean, Eccles, Diana M
Published in Journal of medical genetics (01.06.2019)
Published in Journal of medical genetics (01.06.2019)
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Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus
McVeigh, Terri Patricia, Monahan, Kevin J, Christopher, Joseph, West, Nick, Scott, Malcolm, Murray, Jennie, Hanson, Helen, Armstrong, Ruth, Beggs, Andrew, Berlin, Cheryl, Boyde, Adam, Brady, Angela, Bulmer, Jeremy, Burghel, George, Burn, John, Catherwood, Mark, Christopher, Joseph, Cleaver, Ruth, Coad, Beth, Conti, Hector, Cook, Jacqueline, Cope, Wei, Corbett, Gemma, Crosbie, Emma, Davidson, Rosemarie, DeSouza, Bianca, Donaldson, Alan, Durkie, Miranda, Eccles, Diana, Foot, Nicola, Frayling, Ian, George, Andrew, Gerrard, Gareth, Gibson, Sarah, Green, Andrew, Greville-Heygate, Stephanie, Hamilton, Sarah, Hanson, Helen, Hart, Rachel, Hodgson, Shirley, Holliday, Debbie, Hoyle, Jacqui, Jewell, Rosalyn, Kemp, Zoe, Kiely, Louise, Kiesel, Vicki, Kohut, Kelly, Kristeleit, Rebecca, Kumar, Ajith, Lalloo, Fiona, Latchford, Andrew, Lee, Natalie, Lobo, Donna, Loughrey, Maurice, MacMahon, Suzanne, Martin, Richard, Martin, Sally, McVeigh, Terri, Miedzybrodzka, Zosia, Minshall, Eleanor, Monahan, Kevin, Monje-Garcia, Laura, Morgan, Meleri, Mugalaasi, Hood, Murray, Jennie, Musgrave, Hannah, Nastali, Emily, Norbury, Gail, Ong, Kai Ren, Onyeador, Nicola, Pagan, Judith, Quigley, Kezia, Ratsma, Elizabeth, Rea, Gillian, Repana, Dimitra, Rosenthal, Adam, Scott, Malcolm, Searle, Claire, Shaw, Adam, Side, Lucy, Simon, Kate, Smith, Katherine, Solomons, Joyce, Varde, Avani, West, Nick, Wiggins, Jennifer, Wren, Dorte, Yarram-Smith, Laura
Published in Journal of medical genetics (01.07.2024)
Published in Journal of medical genetics (01.07.2024)
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Clinical delineation of the PACS1-related syndrome-Report on 19 patients
Schuurs-Hoeijmakers, Janneke H. M., Landsverk, Megan L., Foulds, Nicola, Kukolich, Mary K., Gavrilova, Ralitza H., Greville-Heygate, Stephanie, Hanson-Kahn, Andrea, Bernstein, Jonathan A., Glass, Jennifer, Chitayat, David, Burrow, Thomas A., Husami, Ammar, Collins, Kathleen, Wusik, Katie, van der Aa, Nathalie, Kooy, Frank, Brown, Kate Tatton, Gadzicki, Dorothea, Kini, Usha, Alvarez, Sara, Fernández-Jaén, Alberto, McGehee, Frank, Selby, Katherine, Tarailo-Graovac, Maja, Van Allen, Margot, van Karnebeek, Clara D. M., Stavropoulos, Dimitri J., Marshall, Christian R., Merico, Daniele, Gregor, Anne, Zweier, Christiane, Hopkin, Robert J., Chu, Yoyo Wing-Yiu, Chung, Brian Hon-Yin, de Vries, Bert B. A., Devriendt, Koenraad, Hurles, Matthew E., Brunner, Han G.
Published in American journal of medical genetics. Part A (01.03.2016)
Published in American journal of medical genetics. Part A (01.03.2016)
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Mutations specific to the Rac-GEF domain of \textitTRIO cause intellectual disability and microcephaly
Pengelly, Reuben J, Greville-Heygate, Stephanie, Schmidt, Susanne, Seaby, Eleanor G, Jabalameli, M Reza, Mehta, Sarju G, Parker, Michael J, Goudie, David, Fagotto-Kaufmann, Christine, Mercer, Catherine, Debant, Anne, Ennis, Sarah, Baralle, Diana
Published in Journal of medical genetics (01.11.2016)
Published in Journal of medical genetics (01.11.2016)
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Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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Journal Article
Blood RNA analysis can increase clinical diagnostic rate andresolve variants of uncertain significance
Wai, Htoo A, Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin Penelope, Seaby, Eleanor G, Spiers-Fitzgerald, Kerry, Lye Jed, Ellard Sian, Simon, Thomas N, Bunyan, David J, Douglas Andrew G L, Baralle Diana, Naik Swati, Ragge Nicola, Cox, Helen, Morton, Jenny, O’Driscoll Mary, Lim, Derek, Osio Deborah, Elmslie, Frances, Huber, Camilla, Hewitt, Julie, Brandon Heidy, McEntagart Meriel, Mansour Sahar, Lahiri Nayana, Dempsey, Esther, Manalo Merrie, Homfray Tessa, Saggar Anand, Li, Jin, Barwell, Julian, Chandler, Kate, Briggs, Tracy, Douzgou Sofia, Adlard Julian, Kraus, Alison, Mehta Sarju, Watford, Amy, Donaldson, Alan, Low, Karen, Jones, Gabriela, Dixit Abhijit, King, Elizabeth, Shannon, Nora, Kaliakatsos Marios, Joss Shelagh, Balasubramanian Meena, Johnson, Diana, Everest, Sarah, Salter, Claire, Harrison, Victoria, Wise, Gillian, Torokwa Audrey, Sands, Victoria, Pyle, Esther, Tessy, Thomas, Lachlan, Katherine, Foulds, Nicola, Lotery, Andrew, Douglas, Andrew, Hammans Simon, Pond, Emily, Horton, Rachel, Kharbanda Mira, Hunt, David, Thomas, Charlene, Side Lucy, Willis, Catherine, Greville-Heygate Stephanie, Mawby, Rebecca, Mercer, Catherine, Temple, Karen, Kinning Esther, Bojovic Ognjen, Archer, L
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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