Search Results - "COOK, Jackie A"

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor by Douglas, Jenny, Maher, Eamonn R, Cook, Jackie A, Barker, Karen, Craft, Alan, Baskcomb, Linda, Gerrard, Mary, Rahman, Nazneen, Scott, Richard H, Levitt, Gill A, Hanks, Sandra, Picton, Sue, Huxter, Nikki, Williams, Denise, Stiller, Charles A, Pritchard-Jones, Kathy, Kohler, Janice A, Ronghe, Milind D, Pizer, Barry, Pujol, Pascal, Birch, Jillian M

“…Constitutional abnormalities at the imprinted 11p15 growth regulatory region cause syndromes characterized by disordered growth, some of which include a risk…”
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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB , SDHC and SDHD by 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

“…Germline pathogenic variants in / are the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance…”
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UK recommendations for SDHA germline genetic testing and surveillance in clinical practice by Hanson, Helen, Durkie, Miranda, Lalloo, Fiona, Izatt, Louise, McVeigh, Terri P, Cook, Jackie A, Brewer, Carole, Drummond, James, Butler, Samantha, Cranston, Treena, Casey, Ruth, Tan, Tricia, Morganstein, Daniel, Eccles, Diana M, Tischkowitz, Marc, Turnbull, Clare, Woodward, Emma Roisin, Maher, Eamonn R

“…pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type…”
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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project by Pagnamenta, Alistair T, Yu, Jing, Walker, Susan, Noble, Alexandra J, Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Ibnouf Hussein, Rana, Lindsay, Sarah J, Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Allen, Zoe, Perez-Becerril, Cristina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D Gareth, Burghel, George J, Smith, Miriam J, Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T, Cook, Jackie A, Durkie, Miranda, East, James E, Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H, Taylor, Jenny C

“…Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease…”
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Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY) by 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

“…Germline gene pathogenic variants (pv) cause a very high lifetime risk of developing cancer, almost 100% for women and 75% for men. In the UK, annual MRI…”
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Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia by VASUDEVAN, Pradeep C, TWIGG, Stephen R. F, MULLIKEN, John B, COOK, Jackie A, QUARRELL, Oliver W. J, WILKIE, Andrew O. M

“…Craniofrontonasal syndrome (CFNS, MIM 304110) is an X-linked craniofacial disorder that shows paradoxically greater severity in heterozygous females than in…”
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Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers by Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F, Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet G E M, Berthet, Pascaline, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-Lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C

“…No validation has been conducted for the BOADICEA multifactorial breast cancer risk prediction model specifically in pathogenic variant (PV) carriers to date…”
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