Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach by Marques, Isabel, Sá, Maria João, Soares, Gabriela, Mota, Maria do Céu, Pinheiro, Carla, Aguiar, Lisa, Amado, Marta, Soares, Christina, Calado, Angelina, Dias, Patrícia, Sousa, Ana Berta, Fortuna, Ana Maria, Santos, Rosário, Howell, Katherine B., Ryan, Monique M., Leventer, Richard J, Sachdev, Rani, Catford, Rachael, Friend, Kathryn, Mattiske, Tessa R., Shoubridge, Cheryl, Jorge, Paula

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Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX) by Loring, Karagh E., Mattiske, Tessa, Lee, Kristie, Zysk, Aneta, Jackson, Matilda R., Noebels, Jeffrey L., Shoubridge, Cheryl

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Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy by Jackson, Matilda R, Lee, Kristie, Mattiske, Tessa, Jaehne, Emily J, Ozturk, Ezgi, Baune, Bernhard T, O'Brien, Terence J, Jones, Nigel, Shoubridge, Cheryl

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Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare by Stark, Zornitza, Boughtwood, Tiffany, Haas, Matilda, Braithwaite, Jeffrey, Gaff, Clara L., Goranitis, Ilias, Spurdle, Amanda B., Hansen, David P., Hofmann, Oliver, Laing, Nigel, Metcalfe, Sylvia, Newson, Ainsley J., Scott, Hamish S., Thorne, Natalie, Ward, Robyn L., Dinger, Marcel E., Best, Stephanie, Long, Janet C., Grimmond, Sean M., Pearson, John, Waddell, Nicola, Barnett, Christopher P., Cook, Matthew, Field, Michael, Fielding, David, Fox, Stephen B., Gecz, Jozef, Jaffe, Adam, Leventer, Richard J., Lockhart, Paul J., Lunke, Sebastian, Mallett, Andrew J., McGaughran, Julie, Mileshkin, Linda, Nones, Katia, Roscioli, Tony, Scheffer, Ingrid E., Semsarian, Christopher, Simons, Cas, Thomas, David M., Thorburn, David R., Tothill, Richard, White, Deborah, Dunwoodie, Sally, Simpson, Peter T., Phillips, Peta, Brion, Marie-Jo, Finlay, Keri, Quinn, Michael CJ, Mattiske, Tessa, Tudini, Emma, Boggs, Kirsten, Murray, Sean, Wells, Kathy, Cannings, John, Sinclair, Andrew H., Christodoulou, John, North, Kathryn N.

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