The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service von Baynam, Gareth, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharon, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Verhoef, Hedwig, Walker, Caroline E, Molster, Caron, Blackwell, Jenefer M, Jamieson, Sarra, Tang, Dave, Lassmann, Timo, Mina, Kym, Beilby, John, Davis, Mark, Laing, Nigel, Murphy, Lesley, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack

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Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration von Bellgard, Matthew I, Walker, Caroline E, Napier, Kathryn R, Lamont, Leanne, Hunter, Adam A, Render, Lee, Radochonski, Maciej, Pang, Jing, Pedrotti, Annette, Sullivan, David R, Kostner, Karam, Bishop, Warrick, George, Peter M, O’Brien, Richard C, Clifton, Peter M, Bockxmeer, Frank M Van, Nicholls, Stephen J, Hamilton-Craig, Ian, Dawkins, Hugh JS, Watts, Gerald F

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The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort von Walker, Caroline E., Mahede, Trinity, Davis, Geoff, Miller, Laura J., Girschik, Jennifer, Brameld, Kate, Sun, Wenxing, Rath, Ana, Aymé, Ségolène, Zubrick, Stephen R., Baynam, Gareth S., Molster, Caron, Dawkins, Hugh J.S., Weeramanthri, Tarun S.

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Initiating an undiagnosed diseases program in the Western Australian public health system von Baynam, Gareth, Broley, Stephanie, Bauskis, Alicia, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharron, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Schofield, Lyn, Helmholz, Petra, Palmer, Richard, Kung, Stefanie, Walker, Caroline E, Molster, Caron, Lewis, Barry, Mina, Kym, Beilby, John, Pathak, Gargi, Poulton, Cathryn, Groza, Tudor, Zankl, Andreas, Roscioli, Tony, Dinger, Marcel E, Mattick, John S, Gahl, William, Groft, Stephen, Tifft, Cynthia, Taruscio, Domenica, Lasko, Paul, Kosaki, Kenjiro, Wilhelm, Helene, Melegh, Bela, Carapetis, Jonathan, Jana, Sayanta, Chaney, Gervase, Johns, Allison, Owen, Peter Wynn, Daly, Frank, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack

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A Web-Based Registry for Familial Hypercholesterolaemia von Napier, Kathryn R, Pang, Jing, Lamont, Leanne, Walker, Caroline E, Dawkins, Hugh JS, Hunter, Adam A, Bockxmeer, Frank M van, Watts, Gerald F, Bellgard, Matthew I

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3-Dimensional Facial Analysis-Facing Precision Public Health von Baynam, Gareth, Bauskis, Alicia, Pachter, Nicholas, Schofield, Lyn, Verhoef, Hedwig, Palmer, Richard L, Kung, Stefanie, Helmholz, Petra, Ridout, Michael, Walker, Caroline E, Hawkins, Anne, Goldblatt, Jack, Weeramanthri, Tarun S, Dawkins, Hugh J S, Molster, Caron M

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The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy von NEWBOLD, Richard J, DEERY, Evelyne C, WALKER, Caroline E, WILKIE, Susan E, SRINIVASAN, Narayanaswamy, HUNT, David M, BHATTACHARYA, Shomi S, WARREN, Martin J

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Regulation of EGF-receptor expression by EGF and TGFα in epidermoid cancer cells is cell type-specific von McCulloch, Ross K., Walker, Caroline E, Chakera, Aron, Jazayeri, Jalal, Leedman, Peter J.

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Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy von WILKIE, Susan E, NEWBOLD, Richard J, DEERY, Evelyne, WALKER, Caroline E, STINTON, Inez, RAMAMURTHY, Visvanathan, HURLEY, James B, BHATTACHARYA, Shomi S, WARREN, Martin J, HUNT, David M

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Performance of M06, M06-2X, and M06-HF Density Functionals for Conformationally Flexible Anionic Clusters: M06 Functionals Perform Better than B3LYP for a Model System with Dispers... von Walker, Martin, Harvey, Andrew J. A, Sen, Ananya, Dessent, Caroline E. H

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Prevalence of Perinatal Depression in Low- and Middle-Income Countries: A Systematic Review and Meta-analysis von Roddy Mitchell, Alexandra, Gordon, Hannah, Lindquist, Anthea, Walker, Susan P, Homer, Caroline S. E, Middleton, Anna, Cluver, Catherine A, Tong, Stephen, Hastie, Roxanne

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Factors associated with COVID-19-related death using OpenSAFELY von Williamson, Elizabeth J., Walker, Alex J., Bhaskaran, Krishnan, Bacon, Seb, Bates, Chris, Morton, Caroline E., Curtis, Helen J., Mehrkar, Amir, Evans, David, Inglesby, Peter, Cockburn, Jonathan, McDonald, Helen I., MacKenna, Brian, Tomlinson, Laurie, Douglas, Ian J., Rentsch, Christopher T., Mathur, Rohini, Wong, Angel Y. S., Grieve, Richard, Harrison, David, Forbes, Harriet, Schultze, Anna, Croker, Richard, Parry, John, Hester, Frank, Harper, Sam, Perera, Rafael, Evans, Stephen J. W., Smeeth, Liam, Goldacre, Ben

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data von Wright, Caroline F, Dr, Fitzgerald, Tomas W, MS, Jones, Wendy D, MBBS, Clayton, Stephen, MRes, McRae, Jeremy F, PhD, van Kogelenberg, Margriet, PhD, King, Daniel A, MD, Ambridge, Kirsty, BSc, Barrett, Daniel M, BSc, Bayzetinova, Tanya, BSc, Bevan, A Paul, PhD, Bragin, Eugene, MSc, Chatzimichali, Eleni A, PhD, Gribble, Susan, PhD, Jones, Philip, MSc, Krishnappa, Netravathi, MSc, Mason, Laura E, BSc, Miller, Ray, PhD, Morley, Katherine I, PhD, Parthiban, Vijaya, PhD, Prigmore, Elena, PhD, Rajan, Diana, MSc, Sifrim, Alejandro, PhD, Swaminathan, G Jawahar, PhD, Tivey, Adrian R, MSc, Middleton, Anna, PhD, Parker, Michael, Prof, Carter, Nigel P, PhD, Barrett, Jeffrey C, PhD, Hurles, Matthew E, PhD, FitzPatrick, David R, Prof, Firth, Helen V, DM

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Whole-genome sequencing for prediction of Mycobacterium tuberculosis drug susceptibility and resistance: a retrospective cohort study von Walker, Timothy M, Dr, Kohl, Thomas A, PhD, Omar, Shaheed V, MSc, Hedge, Jessica, PhD, Del Ojo Elias, Carlos, MSc, Bradley, Phelim, MPhil, Iqbal, Zamin, DPhil, Feuerriegel, Silke, PhD, Niehaus, Katherine E, MS, Wilson, Daniel J, DPhil, Clifton, David A, DPhil, Kapatai, Georgia, PhD, Ip, Camilla L C, PhD, Bowden, Rory, PhD, Drobniewski, Francis A, PhD, Allix-Béguec, Caroline, PhD, Gaudin, Cyril, PhD, Parkhill, Julian, PhD, Diel, Roland, PhD, Supply, Philip, PhD, Crook, Derrick W, FRCPath, Smith, E Grace, FRCPath, Walker, A Sarah, PhD, Ismail, Nazir, FCPath, Niemann, Stefan, PhD, Peto, Tim E A, FRCP

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Women view key sexual behaviours as the trigger for the onset and recurrence of bacterial vaginosis von Bilardi, Jade E, Walker, Sandra M, Temple-Smith, Meredith J, McNair, Ruth P, Mooney-Somers, Julie, Vodstrcil, Lenka A, Bellhouse, Clare E, Fairley, Christopher K, Bradshaw, Catriona S

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Smac mimetics synergize with immune checkpoint inhibitors to promote tumour immunity against glioblastoma von Beug, Shawn T., Beauregard, Caroline E., Healy, Cristin, Sanda, Tarun, St-Jean, Martine, Chabot, Janelle, Walker, Danielle E., Mohan, Aditya, Earl, Nathalie, Lun, Xueqing, Senger, Donna L., Robbins, Stephen M., Staeheli, Peter, Forsyth, Peter A., Alain, Tommy, LaCasse, Eric C., Korneluk, Robert G.

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Oral versus Intravenous Antibiotics for Bone and Joint Infection von Li, Ho-Kwong, Rombach, Ines, Zambellas, Rhea, Walker, A. Sarah, McNally, Martin A, Atkins, Bridget L, Lipsky, Benjamin A, Hughes, Harriet C, Bose, Deepa, Kümin, Michelle, Scarborough, Claire, Matthews, Philippa C, Brent, Andrew J, Lomas, Jose, Gundle, Roger, Rogers, Mark, Taylor, Adrian, Angus, Brian, Byren, Ivor, Berendt, Anthony R, Warren, Simon, Fitzgerald, Fiona E, Mack, Damien J.F, Hopkins, Susan, Folb, Jonathan, Reynolds, Helen E, Moore, Elinor, Marshall, Jocelyn, Jenkins, Neil, Moran, Christopher E, Woodhouse, Andrew F, Stafford, Samantha, Seaton, R. Andrew, Vallance, Claire, Hemsley, Carolyn J, Bisnauthsing, Karen, Sandoe, Jonathan A.T, Aggarwal, Ila, Ellis, Simon C, Bunn, Deborah J, Sutherland, Rebecca K, Barlow, Gavin, Cooper, Cushla, Geue, Claudia, McMeekin, Nicola, Briggs, Andrew H, Sendi, Parham, Khatamzas, Elham, Wangrangsimakul, Tri, Wong, T.H. Nicholas, Barrett, Lucinda K, Alvand, Abtin, Old, C. Fraser, Bostock, Jennifer, Paul, John, Cooke, Graham, Thwaites, Guy E, Bejon, Philip, Scarborough, Matthew

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Nasal microbial composition and chronic otitis media with effusion: A case-control study von Walker, Rebecca E, Walker, Caroline G, Camargo, Jr, Carlos A, Bartley, Jim, Flint, David, Thompson, John M D, Mitchell, Edwin A

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Single-cell profiling of the antigen-specific response to BNT162b2 SARS-CoV-2 RNA vaccine von Kramer, Kevin J., Wilfong, Erin M., Voss, Kelsey, Barone, Sierra M., Shiakolas, Andrea R., Raju, Nagarajan, Roe, Caroline E., Suryadevara, Naveenchandra, Walker, Lauren M., Wall, Steven C., Paulo, Ariana, Schaefer, Samuel, Dahunsi, Debolanle, Westlake, Camille S., Crowe, James E., Carnahan, Robert H., Rathmell, Jeffrey C., Bonami, Rachel H., Georgiev, Ivelin S., Irish, Jonathan M.

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Ethnic differences in SARS-CoV-2 infection and COVID-19-related hospitalisation, intensive care unit admission, and death in 17 million adults in England: an observational cohort s... von Mathur, Rohini, Rentsch, Christopher T, Morton, Caroline E, Hulme, William J, Schultze, Anna, MacKenna, Brian, Eggo, Rosalind M, Bhaskaran, Krishnan, Wong, Angel Y S, Williamson, Elizabeth J, Forbes, Harriet, Wing, Kevin, McDonald, Helen I, Bates, Chris, Bacon, Seb, Walker, Alex J, Evans, David, Inglesby, Peter, Mehrkar, Amir, Curtis, Helen J, DeVito, Nicholas J, Croker, Richard, Drysdale, Henry, Cockburn, Jonathan, Parry, John, Hester, Frank, Harper, Sam, Douglas, Ian J, Tomlinson, Laurie, Evans, Stephen J W, Grieve, Richard, Harrison, David, Rowan, Kathy, Khunti, Kamlesh, Chaturvedi, Nishi, Smeeth, Liam, Goldacre, Ben

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