Empirical assessment suggests that existing evidence could be used more fully in designing randomized controlled trials von Goudie, Alison C, Sutton, Alexander J, Jones, David R, Donald, Alison

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Phase 1/2 study to assess the safety, efficacy, and pharmacokinetics of barasertib (AZD1152) in patients with advanced acute myeloid leukemia von Löwenberg, Bob, Muus, Petra, Ossenkoppele, Gert, Rousselot, Philippe, Cahn, Jean-Yves, Ifrah, Norbert, Martinelli, Giovanni, Amadori, Sergio, Berman, Ellin, Sonneveld, Pieter, Jongen-Lavrencic, Mojca, Rigaudeau, Sophie, Stockman, Paul, Goudie, Alison, Faderl, Stefan, Jabbour, Elias, Kantarjian, Hagop

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Phase I/II Study to Assess the Safety and Efficacy of the Aurora B Kinase Inhibitor, AZD1152, in Patients with Advanced Acute Myeloid Leukemia von Lowenberg, Bob, Rousselot, Philippe, Martinelli, Giovanni, Goudie, Alison, Stockman, Paul, Kantarjian, Hagop

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Antibiotic management of urinary tract infection in elderly patients in primary care and its association with bloodstream infections and all cause mortality: population based cohor... von Gharbi, Myriam, Drysdale, Joseph H, Lishman, Hannah, Goudie, Rosalind, Molokhia, Mariam, Johnson, Alan P, Holmes, Alison H, Aylin, Paul

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Evidence for 28 genetic disorders discovered by combining healthcare and research data von Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle

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Preoperative behavioural intervention to reduce drinking before elective orthopaedic surgery: the PRE-OP BIRDS feasibility RCT von Snowden, Christopher, Lynch, Ellen, Avery, Leah, Haighton, Catherine, Howel, Denise, Mamasoula, Valentina, Gilvarry, Eilish, McColl, Elaine, Prentis, James, Gerrand, Craig, Steel, Alison, Goudie, Nicola, Howe, Nicola, Kaner, Eileen

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The effect of the timing of the cessation of contact lens use on the results of biometry von Goudie, Colin, Tatham, Andrew, Davies, Rhys, Sifton, Alison, Wright, Mark

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The contribution of X-linked coding variation to severe developmental disorders von Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.

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Ondansetron and metoclopramide as second-line antiemetics in women with nausea and vomiting in pregnancy: the EMPOWER pilot factorial RCT von Robson, Stephen, McParlin, Catherine, Mossop, Helen, Lie, Mabel, Fernandez-Garcia, Cristina, Howel, Denise, Graham, Ruth, Ternent, Laura, Steel, Alison, Goudie, Nicola, Nadeem, Afnan, Phillipson, Julia, Shehmar, Manjeet, Simpson, Nigel, Tuffnell, Derek, Campbell, Ian, Williams, Rew, O’Hara, Margaret E, McColl, Elaine, Nelson-Piercy, Catherine

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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing von Hocking, Lynne J, Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J, O'Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Aitman, Timothy J, Miedzybrodzka, Zosia

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy von Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Basinger, Alice A., Ceulemans, Sophia, Charles, Perrine, McRae, Jeremy F., Rajan, Diana, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Ahmed, Munaza, Anjum, Uruj, Armstrong, Ruth, Barnicoat, Angela, Bennett, Chris, Blair, Edward, Blyth, Moira, Bourdon, Louise, Brady, Angela, Burn, John, Canham, Natalie, Cilliers, Deirdre, Clayton-Smith, Jill, Coates, Andrea, Cooper, Nicola, Dabir, Tabib, Davies, Sally, Dean, John, Devlin, Gemma, Donnai, Dian, Donnelly, Carina, Evans, Karenza, Fendick, Tina, Goodship, Judith, Green, Andrew, Harrison, Lucy, Holden, Simon, Jarvis, Joanna, Johnson, Diana, Jones, Elizabeth, Kumar, V. K. Ajith, Lachlan, Katherine, Langman, Caroline, Maye, Una, McMullan, Dominic J., McWilliam, Catherine, Metcalfe, Kay, Norman, Andrew, Ogilvie, Caroline, Park, Soo-Mi, Phipps, Julie, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Ross, Alison, Sampson, Julian, Shannon, Nora, Skitt, Zara, Stewart, Fiona, Stewart, Helen, Swaminathan, Ganesh Jawahar, Taylor, Cat, Tein, Mark, Treacy, Becky, Vandersteen, Anthony, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Parker, Michael, FitzPatrick, David R., Demurger, Florence, Eiset, Saga Elise, Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Jonasson, Amy R., Kok, Fernando, Marcelis, Carlo L.M., McWalter, Kirsty, Mercimek-Andrews, Saadet, Person, Richard, Ramelli, Gian Paolo, Rauch, Anita, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Trauner, Doris A., Vogel, Ida, Widjaja, Elysa, Zak, Jaroslav, Banka, Siddharth, Rodan, Lance H.

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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections von Mis, Emily K., Brodsky, Nina N., Ionita, Cristian, Darbinyan, Armine, Drummond-Borg, Margaret, McGee, Elisabeth, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Sapp, Katie, McKee, Shane, Rea, Gillian, Cooper, Nicola, O’Driscoll, Mary, Scurr, Ingrid, Abbs, Steve, Armstrong, Ruth, Raymond, Lucy, Green, Andrew, Cleary, Elaine, Lampe, Anne, Castle, Bruce, Loughlin, Sam, Izatt, Louise, Roworth, Wendy, Yau, Shu, Jewell, Rosalyn, Sarkar, Ajoy, Canham, Natalie, Burkitt-Wright, Emma, Jones, Elizabeth, Smith, Audrey, Wright, Ronnie, Henderson, Alex, Allen, Zoe, Bernhard, Birgitta, Busby, Louise, Clowes, Virginia, Blair, Edward, Stewart, Alison, Kamath, Arveen, Halai, D., Holman, J.E., Jackson, R., Lopez, F.J., Rogers, T., Savage, K., Sieghart, A., Thomas, E.R.A., Thompson, S.R., Tucci, A., Alejandro, Mercedes E., Amendola, Laura, Andrews, Ashley, Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bamshad, Michael, Bayrak-Toydemir, Pinar, Botto, Lorenzo, Coakley, Terra R., Coggins, Matthew, Cooper, Cynthia M., Cunningham, Michael, Dai, Hongzheng, Duncan, Laura, Fieg, Elizabeth L., Forghani, Irman, Hahn, Sihoun, Hanchard, Neil A., Hayes, Nichole, High, Frances, Hisama, Fuki M., Holm, Ingrid A., Jamal, Fariha, Kennedy, Jennifer, LeBlanc, Kimberly, Macnamara, Ellen F., Maduro, Valerie V., Mak, Bryan, McCauley, Jacob, McGee, Elisabeth, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Pace, Laura, Potocki, Lorraine, Quinlan, Aaron, Raja, Archana N., Robertson, Amy K., Rodan, Lance H., Saporta, Mario, Schaechter, Judy, Signer, Rebecca, Solem, Emily, Solnica-Krezel, Lilianna, Sutton, Shirley, Velinder, Matt, Wheeler, Matthew T., Khokha, Mustafa K.

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P531: Developing the patient-reported Genetic testing Utility InDEx (P-GUIDE): Assessing value of genetic testing from patients’ perspectives in multiple clinical contexts von Poole, Elise, Luca, Stephanie, Assamad, Daniel, Xiao, Bowen, Yan, Joyce, Banglorewala, Pooja, Xia, Cheryl, Ungar, Wendy, Abbott, Lesleigh, Armstrong, Linlea, Birch, Patricia, Boycott, Kym, Carroll, June, Chad, Lauren, Chitayat, David, Denburg, Avram, Deyell, Rebecca, Elliott, Alison, Goudie, Catherine, Laberge, Anne-Marie, Maio, Melissa, Peltekova, Iskra, Quinlan, Becky, Sawyer, Sarah, Silver, Rachel, Smith, Maureen, Teitelbaum, Ronni, Villani, Anita, Wainstein, Tasha, Hayeems, Robin

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DIPG-76. PEDIATRIC PATIENTS WITH DIFFUSE MIDLINE GLIOMA DEMONSTRATE AN UNEXPECTED PREVALENCE OF GERMLINE VARIANTS IN HOMOLOGOUS RECOMBINATION GENES von Mateos, Marion K, Ajuyah, Pamela, Fuentes-Bolanos, Noemi, Kamand, Sam El, Barahona, Paulette, Altekoester, Ann, Mayoh, Chelsea, Holiday, Holly, Liu, Jie, Cui, Louise, Pfaff, Elke, Mackay, Alan, Resnick, Adam, Pinese, Mark, Lau, Loretta M S, Khuong-Quang, Dong-Anh, Dias, Kimberly, Goudie, Catherine, Salkeld, Alison, Rokita, Jo Lynne, Jones, David T W, Juretic, Nikoleta, Hayden, Elisha, Pfister, Stefan M, Kramm, Christof M, Blattner-Johnson, Mirjam, Jabado, Nada, Tsoli, Maria, Vittorio, Orazio, Mueller, Sabine, Guo, Yiran, Tucker, Katherine, Waszak, Sebastian M, Perreault, Sebastien, Jones, Chris, Wong-Erasmus, Marie, Cowley, Mark J, Ziegler, David S

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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype von Sadleir, Lynette G, Mountier, Emily I, Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A, Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C, Murali, Hema R, Carvill, Gemma, Myers, Candace T, Mefford, Heather C, Scheffer, Ingrid E

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Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity St... von Ho, Aileen K., Landwehrmeyer, G. Bernhard, Rae, Daniela, Simpson, Sheila A., de Souza (Keylock), Jenny, Coulthard, Elizabeth, Gethin, Louise, Barker, Roger A., Fisher, Kate, Goodman, Anna, Hill, Susan, Swain, Rachel, Guzman, Natalie Valle, Callaghan, Jenny, Fullam, Ruth, Rosser, Anne, Tonner, Alison, Edwards, Maureen, Ho, Carrie, Pearson, Pauline, Foster, Jillian, McKenzie, Sue, Rothery, Jean, Deith, Catherine, Ireland, Jane, Harding, Alison, Laver, Fiona, Silva, Mark, Rowett, Liz, Musgrave, Hannah, Toscano, Jean, Gerrans, Emily, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Lashwood, Alison, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Doherty, Karen, Haider, Salman, Robertson, Nicola, Tabrizi, Sarah, Taylor, Rachel, Bek, Judith, Craufurd, David, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Oughton, Emma, Partington-Jones, Lucy, Westmoreland, Leann, Davidson, Lynn, Davison, Jill, Morgan, Karen, Savage, Lois, Wood, Josh, Siuda, Gill, Dixon, Kathryn, Armstrong, Richard, Burn, John, Weekes, Rebecca, Craven, Janet, Verstraelen (Ritchie), Nicola, Barrett, Wendy, Bandmann, Oliver, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, Peppa, Nadia, Quarrell, Oliver, Tidswell, Katherine, Gunner, Kerry, Harris, Kayla, Anderson, Mary, Keys, Liane, Smalley, Sarah, El-Nimr, George, Duffell, Allison, Kennedy (nee Smith), Karen, Bucher, Walter, de Schepper, Beatrice, Eden, John, Hendrikx, Victor, King, Diana, Lenon-Bird, Anne, Rapaille, Lilliane, Santini, Helen, Sasinkova, Pavla, Soltysiak, Beverley, Smith, Steve, van der Leer, Hans, van der Meer, Lucienne, Wooldridge, Michael

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Variation in acute and community service provision of care of the elderly services across Scotland: findings from the Scottish Care of Older People (SCoOP) initial scoping survey von Donaldson, Alison I C, Neal, Samuel R, McAlpine, Christine H, Quinn, Terence, Shenkin, Susan D, Ellis, Graham, Myint, Phyo Kyaw

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Latest Pleistocene and Holocene dune construction at the north-eastern edge of the Rub Al Khali, United Arab Emirates von Goudie, Andrew S., Colls, Alison, Stokes, Stephen, Parker, Adrian, White, Kevin, Al-Farraj, Asma

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Predicting breast cancer risk: implications of a “weak” family history von Anderson, Elaine, Berg, Jonathan, Black, Roger, Bradshaw, Nicola, Campbell, Joyce, Cetnarskyj, Roseanne, Drummond, Sarah, Davidson, Rosemarie, Dunlop, Jacqueline, Fordyce, Alison, Gibbons, Barbara, Goudie, David, Gregory, Helen, Hanning, Kirstie, Holloway, Susan, Longmuir, Mark, McLeish, Lorna, Murday, Vicky, Miedzybrodska, Zosia, Nicholson, Donna, Pearson, Pauline, Porteous, Mary, Reis, Marta, Slater, Sheila, Smith, Karen, Smyth, Elizabeth, Snadden, Lesley, Steel, Michael, Stirling, Diane, Watt, Cathy, Whyte, Catriona, Young, Dorothy

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Analysis of referrals to a multi-disciplinary breast cancer genetics clinic: practical and economic considerations von Reis, Marta M, Young, Dorothy, McLeish, Lorna, Goudie, David, Cook, Alan, Sullivan, Frank, Vysny, Helen, Fordyce, Alison, Black, Roger, Tavakoli, Manouche, Steel, Michael

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