Loss of the Nrf2 transcription factor causes a marked reduction in constitutive and inducible expression of the glutathione S-transferase Gsta1, Gsta2, Gstm1, Gstm2, Gstm3 and Gstm... by Chanas, Simon A, Jiang, Qing, McMahon, Michael, McWalter, Gail K, McLellan, Lesley I, Elcombe, Clifford R, Henderson, Colin J, Wolf, C Roland, Moffat, Graeme J, Itoh, Ken, Yamamoto, Masayuki, Hayes, John D

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Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance by Powis, Z., Farwell Hagman, K.D., Mroske, C., McWalter, K., Cohen, J.S., Colombo, R., Serretti, A., Fatemi, A., David, K.L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C.M., Payne, K., Barbaro‐Dieber, T., Gripp, K.W., Baker, L., Stamper, T., Aleck, K.A., Jordan, E.S., Hersh, J.H., Burton, J., Wentzensen, I.M., Guillen Sacoto, M.J., Willaert, R., Cho, M.T., Petrik, I., Huether, R., Tang, S.

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Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy by Robinson, H.K., Zaklyazminskaya, E., Povolotskaya, I., Surikova, Y., Mallin, L., Armstrong, C., Mabin, D., Benke, P.J., Chrisant, M.R., McDonald, M., Marboe, C.C., Agre, K.E., Deyle, D.R., McWalter, K., Douglas, G., Balashova, M.S., Kaimonov, V., Shirokova, N., Pomerantseva, E., Turner, C.L., Ellard, S.

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy by 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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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures” by Costantini, Alice, Valta, Helena, Baratang, Nissan Vida, Yap, Patrick, Bertola, Débora R., Yamamoto, Guilherme L., Kim, Chong A., Chen, Jiani, Wierenga, Klaas J., Fanning, Elizabeth A., Escobar, Luis, McWalter, Kirsty, McLaughlin, Heather, Willaert, Rebecca, Begtrup, Amber, Alm, Jessica J., Reinhardt, Dieter P., Mäkitie, Outi, Campeau, Philippe M.

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Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder by den Hoed, J., de Boer, E., Voisin, N., Guex, N., Blok, L. Snijders, Chrast, J., Manwaring, L., Willing, M., Waheeb, A., Osmond, M., Mcwalter, K., Vitobello, A., Demurger, F., Lavillaureix, A., Odent, S., Mazel, B., Faivre, L., Thiffault, I., Schwager, C., Amudhavalli, S. M., Rosenfeld, J. A., Radtke, K., Preiksaitiene, E., Ranza, E., Depienne, C., Kuechler, A., Mohammed, S., Abedi, Y. Hamzavi, Bonagura, V. R., Zuccarelli, B., Horist, B., Krishnamurthy, V., Kattentidt-Mouravieva, A. A., Granger, L., Petersen, A., Jones, K. L., Sinnema, M., Stegmann, A. P. A., Newbury-Ecob, R., Kini, U., Newbury, D. F., Gilissen, C., Brunner, H., Kleefstra, T., Reymond, A., Vissers, L. E. L. M., Fisher, S. E.

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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission by Guo, Hui, Li, Ying, Shen, Lu, Wang, Tianyun, Jia, Xiangbin, Liu, Lijuan, Xu, Tao, Ou, Mengzhu, Hoekzema, Kendra, Wu, Huidan, Gillentine, Madelyn A, Liu, Cenying, Ni, Hailun, Peng, Pengwei, Zhao, Rongjuan, Zhang, Yu, Phornphutkul, Chanika, Stegmann, Alexander P A, Prada, Carlos E, Hopkin, Robert J, Shieh, Joseph T, McWalter, Kirsty, Monaghan, Kristin G, van Hasselt, Peter M, van Gassen, Koen, Bai, Ting, Long, Min, Han, Lin, Quan, Yingting, Chen, Meilin, Zhang, Yaowen, Li, Kuokuo, Zhang, Qiumeng, Tan, Jieqiong, Zhu, Tengfei, Liu, Yaning, Pang, Nan, Peng, Jing, Scott, Daryl A, Lalani, Seema R, Azamian, Mahshid, Mancini, Grazia M S, Adams, Darius J, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Pevsner, Jonathan, Osei-Owusu, Ikeoluwa A, Romano, Corrado, Calabrese, Giuseppe, Galesi, Ornella, Gecz, Jozef, Haan, Eric, Ranells, Judith, Racobaldo, Melissa, Nordenskjold, Magnus, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Ball, Susie, Zou, Xiaobing, Zhao, Jingping, Hu, Zhengmao, Xia, Fan, Liu, Pengfei, Rosenfeld, Jill A, de Vries, Bert B A, Bernier, Raphael A, Xu, Zhi-Qing David, Li, Honghui, Xie, Wei, Hufnagel, Robert B, Eichler, Evan E, Xia, Kun

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females by Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Pedace, L, de Boer, E, Jackson, A, Stellacci, E, Lo Cicero, S, Dentici, ML, McWalter, K, Sanchez-Lara, PA, Lindstrom, K, Madan-Khetarpal, S, MacKenzie, JJ, Monteleone, B, Zhou, DH, Sawyer, SL, Monteiro, FP, Macke, EL, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Stals, K, Cabet, S, Steindl, K, Weiss, K, Castle, AMR, Kalsner, L, Chandler, KE, Sheehan, W, Shinde, DN, Goodloe, D, Bluske, K, Faletra, F, Kurtz-Nelson, EC, Anderlid, BM, Barakat, TS, Graham, JM, Faivre, L, Banka, S, Wang, TY, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B, Scott, DA, Holder, JL, Tartaglia, M

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Novel mutations in fibronectin associated with metaphyseal fractures - Expanding the phenotype of patients with a subtype of spondylomethaphyseal dysplasia with "corner fractures" by Alm, JJ, Costantini, A, Valta, H, Baratang, NV, Yap, P, Bertola, D, Yamamoto, G, Kim, CA, Chen, JN, Wierenga, KJ, Fanning, EA, Escobar, L, Mcwalter, K, Mclaughlin, H, Willaert, R, Begtrup, A, Reinhardt, DP, Makitie, O, Campeau, PM

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Machine Vision Boosts PCB Assembly Processes by McWalter, Kathy

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Variability of CubeQuant T1ρ , quantitative DESS T2 , and cones sodium MRI in knee cartilage by Jordan, C.D, McWalter, E.J, Monu, U.D, Watkins, R.D, Chen, W, Bangerter, N.K, Hargreaves, B.A, Gold, G.E

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Dynamic initial margin estimation based on quantiles of Johnson distributions by McWalter, Thomas A, Kienitz, Jörg, Nowaczyk, Nikolai, Rudd, Ralph, Acar, Sarp K.

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Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study by Board, R E, Ellison, G, Orr, M C M, Kemsley, K R, McWalter, G, Blockley, L Y, Dearden, S P, Morris, C, Ranson, M, Cantarini, M V, Dive, C, Hughes, A

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Epidermal growth factor receptor mutation analysis in previously unanalyzed histology samples and cytology samples from the phase III Iressa Pan-ASia Study (IPASS) by Yang, James Chih-Hsin, Wu, Yi-Long, Chan, Valorie, Kurnianda, Johan, Nakagawa, Kazuhiko, Saijo, Nagahiro, Fukuoka, Masahiro, McWalter, Gael, McCormack, Rose, Mok, Tony S.K

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Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes by Flex, Elisabetta, Albadri, Shahad, Radio, Francesca Clementina, Cecchetti, Serena, Lauri, Antonella, Priolo, Manuela, Kissopoulos, Marta, Carpentieri, Giovanna, Fasano, Giulia, Venditti, Martina, Magliocca, Valentina, Bellacchio, Emanuele, Welch, Carrie L, Colombo, Paolo C, Kochav, Stephanie M, Chang, Richard, Barrick, Rebekah, Trivisano, Marina, Micalizzi, Alessia, Borghi, Rossella, Messina, Elena, Mancini, Cecilia, Pizzi, Simone, De Santis, Flavia, Rosello, Marion, Specchio, Nicola, Compagnucci, Claudia, McWalter, Kirsty, Chung, Wendy K, Del Bene, Filippo, Tartaglia, Marco

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Effects of antihypertensive treatment after acute stroke in the Continue Or Stop post-Stroke Antihypertensives Collaborative Study (COSSACS): a prospective, randomised, open, blind... by Robinson, Thompson G, Prof, Potter, John F, Prof, Ford, Gary A, Prof, Bulpitt, Christopher J, Prof, Chernova, Julia, MSc, Jagger, Carol, Prof, James, Martin A, MD, Knight, Joanne, PhD, Markus, Hugh S, Prof, Mistri, Amit K, MD, Poulter, Neil R, Prof

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Tibial cartilage creep during weight bearing: in vivo 3D CT assessment by Choi, J.-H, McWalter, E.J, Datta, S, Mueller, K, Maier, A, Fahrig, R, Levenston, M.E, Gold, G.E

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Hemoglobinopathy Newborn Screening Knowledge of Physicians by McWalter, Kirsty M., MS, CGC, White, Elaine M., MS, CGC, Hayes, Donald K., MD, MPH, Au, Sylvia M., MS, CGC

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AHDC1 missense mutations in Xia-Gibbs syndrome by Khayat, Michael M., Hu, Jianhong, Jiang, Yunyun, Li, He, Chander, Varuna, Dawood, Moez, Hansen, Adam W., Li, Shoudong, Friedman, Jennifer, Cross, Laura, Bijlsma, Emilia K., Ruivenkamp, Claudia A.L., Sansbury, Francis H., Innis, Jeffrey W., Omark O’Shea, Jessica, Meng, Qingchang, Rosenfeld, Jill A., McWalter, Kirsty, Wangler, Michael F., Lupski, James R., Posey, Jennifer E., Murdock, David, Gibbs, Richard A.

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation by Balak, Chris, Bénard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maité, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, Beest, Johanna Ter, Wentzensen, Ingrid M., Monaghan, Kristin G., Mcwalter, Kirsty, Richholt, Ryan, Béchec, Antony Le, Jepsen, Wayne, Both, Matt De, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amélie

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