Germline variant testing in serrated polyposis syndrome von Murphy, Aisling, Solomons, Joyce, Risby, Peter, Gabriel, Jessica, Bedenham, Tina, Johnson, Michael, Atkinson, Nathan, Bailey, Adam A, Bird‐Lieberman, Elizabeth, Leedham, Simon J, East, James E, Biswas, Sujata

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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project von 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.

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Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure von Nolan, Joshua, Buchanan, James, Taylor, John, Almeida, Joao, Bedenham, Tina, Blair, Edward, Broadgate, Suzanne, Butler, Samantha, Cazeaux, Angela, Craft, Judith, Cranston, Treena, Crawford, Gillian, Forrest, Jamie, Gabriel, Jessica, George, Elaine, Gillen, Donna, Haeger, Ash, Hastings Ward, Jillian, Hawkes, Lara, Hodgkiss, Claire, Hoffman, Jonathan, Jones, Alan, Karpe, Fredrik, Kasperaviciute, Dalia, Kovacs, Erika, Leigh, Sarah, Limb, Elizabeth, Lloyd-Jani, Anjali, Lopez, Javier, Lucassen, Anneke, McFarlane, Carlos, O’Rourke, Anthony W., Pond, Emily, Sherman, Catherine, Stewart, Helen, Thomas, Ellen, Thomas, Simon, Thomas, Tessy, Thomson, Kate, Wakelin, Hannah, Walker, Susan, Watson, Melanie, Williams, Eleanor, Ormondroyd, Elizabeth

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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk von Spurdle, Amanda B, Whiley, Phillip J, Thompson, Bryony, Feng, Bingjian, Healey, Sue, Brown, Melissa A, Pettigrew, Christopher, Van Asperen, Christi J, Ausems, Margreet G E M, Kattentidt-Mouravieva, Anna A, van den Ouweland, Ans M W, Belgium UV Consortium, Dutch, Lindblom, Annika, Pigg, Maritta H, Schmutzler, Rita K, Engel, Christoph, Meindl, Alfons, Caputo, Sandrine, Sinilnikova, Olga M, Lidereau, Rosette, Couch, Fergus J, Guidugli, Lucia, Hansen, Thomas van Overeem, Thomassen, Mads, Eccles, Diana M, Tucker, Kathy, Benitez, Javier, Domchek, Susan M, Toland, Amanda E, Van Rensburg, Elizabeth J, Wappenschmidt, Barbara, Borg, Åke, Vreeswijk, Maaike P G, Goldgar, David E

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Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia von Stankovic, Tatjana, Weber, Peter, Stewart, Grant, Bedenham, Tina, Murray, Jim, Byrd, Phil J, Moss, Paul AH, Taylor, A Malcolm R

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A Comparison of Methods for EGFR Mutation Testing in Non–Small Cell Lung Cancer von Young, Elizabeth C, Owens, Martina M, Adebiyi, Idowu, Bedenham, Tina, Butler, Rachel, Callaway, Jonathan, Cranston, Treena, Crosby, Charlene, Cree, Ian A, Dutton, Laura, Faulkes, Catherine, Faulkner, Claire, Howard, Emma, Knight, Julia, Huang, Yuanxue, Lavender, Louise, Lazarou, Lazarus P, Liu, Hongxiang, Mair, Debbie, Milano, Antonio, Sandell, Stacey, Skinner, Alison, Wallace, Andrew, Williams, Maggie, Spivey, Vicky, Goodall, John, Frampton, Jonathan, Ellard, Sian

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hMRE11 : genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay von PITTS, Sharon A, KULLAR, Harjit S, BYRD, Philip J, STANKOVIC, Tatjana, STEWART, Grant S, LAST, James I. K, BEDENHAM, Tina, ARMSTRONG, Susan J, PIANE, Maria, CHESSA, Luciana, TAYLOR, A. Malcolm R

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Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey von Allen, Sophie, Loong, Lucy, Garrett, Alice, Torr, Bethany, Durkie, Miranda, Drummond, James, Callaway, Alison, Robinson, Rachel, Burghel, George J, Hanson, Helen, Field, Joanne, McDevitt, Trudi, McVeigh, Terri P, Bedenham, Tina, Bowles, Christopher, Bradshaw, Kirsty, Brooks, Claire, Butler, Samantha, Del Rey Jimenez, Juan Carlos, Hawkes, Lorraine, Stinton, Victoria, MacMahon, Suzanne, Owens, Martina, Palmer-Smith, Sheila, Smith, Kenneth, Tellez, James, Valganon-Petrizan, Mikel, Waskiewicz, Erik, Yau, Michael, Eccles, Diana M, Tischkowitz, Marc, Goel, Shilpi, McRonald, Fiona, Antoniou, Antonis C, Morris, Eva, Hardy, Steven, Turnbull, Clare

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Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics labor... von Loong, Lucy, Huntley, Catherine, McRonald, Fiona, Santaniello, Francesco, Pethick, Joanna, Torr, Bethany, Allen, Sophie, Tulloch, Oliver, Goel, Shilpi, Shand, Brian, Rahman, Tameera, Luchtenborg, Margreet, Garrett, Alice, Barber, Richard, Bedenham, Tina, Bourn, David, Bradshaw, Kirsty, Brooks, Claire, Bruty, Jonathan, Burghel, George J, Butler, Samantha, Buxton, Chris, Callaway, Alison, Callaway, Jonathan, Drummond, James, Durkie, Miranda, Field, Joanne, Jenkins, Lucy, McVeigh, Terri P, Mountford, Roger, Nyanhete, Rodney, Petrides, Evgenia, Robinson, Rachel, Scott, Tracy, Stinton, Victoria, Tellez, James, Wallace, Andrew J, Yarram-Smith, Laura, Sahan, Kate, Hallowell, Nina, Eccles, Diana M, Pharoah, Paul, Tischkowitz, Marc, Antoniou, Antonis C, Evans, D Gareth, Lalloo, Fiona, Norbury, Gail, Morris, Eva, Burn, John, Hardy, Steven, Turnbull, Clare

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