Discovery of over 200 new and expanded genetic conditions using GeneMatcher von McWalter, K., Torti, E., Morrow, M., Juusola, J., Retterer, K.

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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... von 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 von 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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Transcription Factor Nrf2 Is Essential for Induction of NAD(P)H:Quinone Oxidoreductase 1, Glutathione S-Transferases, and Glutamate Cysteine Ligase by Broccoli Seeds and Isothiocya... von McWalter, Gail K., Higgins, Larry G., McLellan, Lesley I., Henderson, Colin J., Hayes, John D., Song, Lijiang, Thornalley, Paul J., Itoh, Ken, Yamamoto, Masayuki

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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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Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder von 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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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females von 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" von 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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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology von Sobering, A.K., Bryant, L.M., Li, D., McGaughran, J., Maystadt, I., Moortgat, S., Graham, J.M., Haeringen, A. van, Ruivenkamp, C., Cuperus, R., Vogt, J., Morton, J., Brasch-Andersen, C., Steenhof, M., Hansen, L.K., Adler, E., Lyonnet, S., Pingault, V., Sandrine, M., Ziegler, A., Donald, T., Nelson, B., Holt, B., Petryna, O., Firth, H., McWalter, K., Zyskind, J., Telegrafi, A., Juusola, J., Person, R., Bamshad, M.J., Earl, D., Tsai, A.C.H., Yearwood, K.R., Marco, E., Nowak, C., Douglas, J., Hakonarson, H., Bhoj, E.J.

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AHDC1 missense mutations in Xia-Gibbs syndrome von Khayat, M.M., Hu, J.H., Jiang, Y.Y., Li, H., Chander, V., Dawood, M., Hansen, A.W., Li, S.D., Friedman, J., Cross, L., Bijlsma, E.K., Ruivenkamp, C.A.L., Sansbury, F.H., Innis, J.W., O'Shea, J.O., Meng, Q.C., Rosenfeld, J.A., McWalter, K., Wangler, M.F., Lupski, J.R., Posey, J.E., Murdock, D., Gibbs, R.A.

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition von Palmer, EE, Pusch, M, Picollo, A, Forwood, C, Nguyen, MH, Suckow, V, Gibbons, J, Hoff, A, Sigfrid, L, Megarbane, A, Nizon, M, Cogné, B, Beneteau, C, Alkuraya, FS, Chedrawi, A, Hashem, MO, Stamberger, H, Weckhuysen, S, Vanlander, A, Ceulemans, B, Rajagopalan, S, Nunn, K, Arpin, S, Raynaud, M, Motter, CS, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Grimmel, M, Haack, TB, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, LJ, Simons, C, Costain, G, Dupuis, L, Mendoza-Londono, R, Dudding-Byth, T, Boyle, J, Saunders, C, Fleming, E, El Chehadeh, S, Spitz, MA, Piton, A, Gerard, B, Abi Warde, MT, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, JM, Sands, TT, Wilson, GN, Silvertooth, EJ, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M, Rohena, L, Willemsen, MH, Ockeloen, CW, Pfundt, R, Kroft, SD, Field, M, Laranjeira, FER, Fortuna, AM, Soares, AR, Michaud, V, Naudion, S, Golla, S, Weaver, DD, Bird, LM, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, PM, Blazo, M, Bijlsma, EK, Rosenfeld, JA, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, SS, Armstrong, R, Kalscheuer, VM

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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome von Cousin, M.A., Veale, E.L., Dsouza, N.R., Tripathi, S., Holden, R.G., Arelin, M., Beek, G., Bekheirnia, M.R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Carmichael, J., Courtin, T., Cogne, B., Dabaj, I., Doummar, D., Fazilleau, L., Ferlini, A., Gavrilova, R.H., Jr, J.M.G., Haack, T.B., Juusola, J., Kant, S.G., Kayani, S., Keren, B., Ketteler, P., Klockner, C., Koopmann, T.T., Kruisselbrink, T.M., Kuechler, A., Lambert, L., Latypova, X., Lebel, R.R., Leduc, M.S., Leonardi, E., Lewis, A.M., Liew, W., Machol, K., Mardini, S., McWalter, K., Mignot, C., McLaughlin, J., Murgia, A., Narayanan, V., Nava, C., Neuser, S., Nizon, M., Ognibene, D., Park, J., Platzer, K., Poirsier, C., Radtke, M., Ramsey, K., Runke, C.K., Sacoto, M.J.G., Scaglia, F., Shinawi, M., Spranger, S., Tan, E.S., Taylor, J., Trentesaux, A.S., Vairo, F., Willaert, R., Zadeh, N., Urrutia, R., Babovic-Vuksanovic, D., Zimmermann, M.T., Mathie, A., Klee, E.W.

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition von Palmer, E.E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M.H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogne, B., Beneteau, C., Alkuraya, F.S., Chedrawi, A., Hashem, M.O., Stamberger, H., Weckhuysen, S., Vanlander, A., Ceulemans, B., Rajagopalan, S., Nunn, K., Arpin, S., Raynaud, M., Motter, C.S., Ward-Melver, C., Janssens, K., Meuwissen, M., Beysen, D., Dikow, N., Grimmel, M., Haack, T.B., Clement, E., McTague, A., Hunt, D., Townshend, S., Ward, M., Richards, L.J., Simons, C., Costain, G., Dupuis, L., Mendoza-Londono, R., Dudding-Byth, T., Boyle, J., Saunders, C., Fleming, E., Chehadeh, S. el, Spitz, M.A., Piton, A., Gerard, B., Warde, M.T.A., Rea, G., McKenna, C., Douzgou, S., Banka, S., Akman, C., Bain, J.M., Sands, T.T., Wilson, G.N., Silvertooth, E.J., Miller, L., Lederer, D., Sachdev, R., Macintosh, R., Monestier, O., Karadurmus, D., Collins, F., Carter, M., Rohena, L., Willemsen, M.H., Ockeloen, C.W., Pfundt, R., Kroft, S.D., Field, M., Laranjeira, F.E.R., Fortuna, A.M., Soares, A.R., Michaud, V., Naudion, S., Golla, S., Weaver, D.D., Bird, L.M., Friedman, J., Clowes, V., Joss, S., Polsler, L., Campeau, P.M., Blazo, M., Bijlsma, E.K., Rosenfeld, J.A., Beetz, C., Powis, Z., McWalter, K., Brandt, T., Torti, E., Mathot, M., Mohammad, S.S., Armstrong, R., Kalscheuer, V.M.

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition von Palmer, E.E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M.H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F.S., Chedrawi, A., Hashem, M.O., Stamberger, H., Weckhuysen, S., Vanlander, A., Ceulemans, B., Rajagopalan, S., Nunn, K., Arpin, S., Raynaud, M., Motter, C.S., Ward-Melver, C., Janssens, K., Meuwissen, M., Beysen, D., Dikow, N., Grimmel, M., Haack, T.B., Clement, E., McTague, A., Hunt, D., Townshend, S., Ward, M., Richards, L.J., Simons, C., Costain, G., Dupuis, L., Mendoza-Londono, R., Dudding-Byth, T., Boyle, J., Saunders, C., Fleming, E., Chehadeh, S. el, Spitz, M.A., Piton, A., Gerard, B., Warde, M.T.A., Rea, G., McKenna, C., Douzgou, S., Banka, S., Akman, C., Bain, J.M., Sands, T.T., Wilson, G.N., Silvertooth, E.J., Miller, L., Lederer, D., Sachdev, R., Macintosh, R., Monestier, O., Karadurmus, D., Collins, F., Carter, M., Rohena, L., Willemsen, M.H., Ockeloen, C.W., Pfundt, R., Kroft, S.D., Field, M., Laranjeira, F.E.R., Fortuna, A.M., Soares, A.R., Michaud, V., Naudion, S., Golla, S., Weaver, D.D., Bird, L.M., Friedman, J., Clowes, V., Joss, S., Pölsler, L., Campeau, P.M., Blazo, M., Bijlsma, E.K., Rosenfeld, J.A., Beetz, C., Powis, Z., McWalter, K., Brandt, T., Torti, E., Mathot, M., Mohammad, S.S., Armstrong, R., Kalscheuer, V.M.

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Transcription Factor Nrf2 Is Essential for Induction of NAD(P)H:Quinone Oxidoreductase 1, Glutathione S-Transferases, and Glutamate Cysteine Ligase by Broccoli Seeds and Isothiocya... von McWalter, Gail K, Higgins, Larry G, McLellan, Lesley I, Henderson, Colin J

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency von Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P.R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A.C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., Sacoto, M.G.J., Schnur, R.E., Zhu, Z.H., Poisson, A., Chehadeh, S. el, Alembik, Y., Bruel, A.L., Lehalle, D., Nambot, S., Moutton, S., Odent, S., Jaillard, S., Dubourg, C., Hilhorst-Hofstee, Y., Barbaro-Dieber, T., Ortega, L., Bhoj, E.J., Masser-Frye, D., Bird, L.M., Lindstrom, K., Ramsey, K.M., Narayanan, V., Fassi, E., Willing, M., Cole, T., Salter, C.G., Akilapa, R., Vandersteen, A., Canham, N., Rump, P., Gerkes, E.H., Wassink-Ruiter, J.K.S., Bijlsma, E., Hoffer, M.J.V., Vargas, M., Wojcik, A., Cherik, F., Francannet, C., Rosenfeld, J.A., Machol, K., Scott, D.A., Bacino, C.A., Wang, X., Clark, G.D., Bertoli, M., Zwolinski, S., Thomas, R.H., Akay, E., Chang, R.H.C., Bressi, R., Russo, R.S., Srour, M., Russell, L., Goyette, A.M.E., Dupuis, L., Mendoza-Londono, R., Karimov, C., Joseph, M., Nizon, M., Cogne, B., Kuechler, A., Piton, A., Klee, E.W., Lefebvre, V., Clark, K.J., Depienne, C.

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Variability of CubeQuant T1ρ , quantitative DESS T2 , and cones sodium MRI in knee cartilage von 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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The effect of a patellar brace on three-dimensional patellar kinematics in patients with lateral patellofemoral osteoarthritis von McWalter, E.J, Hunter, D.J, Harvey, W.F, McCree, P, Hirko, K.A, Felson, D.T, Wilson, D.R

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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) von 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 von 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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