Impact of the 2013 American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 (HER2) testing of i... by Bethune, Gillian C, Veldhuijzen van Zanten, Daniel, MacIntosh, Rebecca F, Rayson, Daniel, Younis, Tallal, Thompson, Kara, Barnes, Penny J

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A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy by Saldanha, Rohit G, Balka, Katherine R, Davidson, Sophia, Wainstein, Brynn K, Wong, Melanie, Macintosh, Rebecca, Loo, Christine K C, Weber, Martin A, Kamath, Vasanth, Moghaddas, Fiona, De Nardo, Dominic, Gray, Paul Edgar, Masters, Seth Lucian

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The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome by Frith, Katie, Munier, C. Mee Ling, Hastings, Lucy, Mowat, David, Wilson, Meredith, Seddiki, Nabila, Macintosh, Rebecca, Kelleher, Anthony D., Gray, Paul, Zaunders, John James

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome by Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Ahmed, Heba M. Jalal, Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P., Cowley, Mark J., Dinger, Marcel, Rosenfeld, Jill A., Xiao, Rui, Cho, Megan T., Yakubu, Suliat F., Henderson, Lindsay B., Guillen Sacoto, Maria J., Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V., Jones, Marilyn C., Lindstrom, Kristin, Bristol, Ruth E., Kayani, Saima, Snyder, Molly, Villanueva, María Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukasz, Jaremko, Mariusz, Sachdev, Rani K., Alkuraya, Fowzan S., Arold, Stefan T.

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A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy by Gururaj, Sushmitha, Palmer, Elizabeth Emma, Sheehan, Garrett D., Kandula, Tejaswi, Macintosh, Rebecca, Ying, Kevin, Morris, Paula, Tao, Jiang, Dias, Kerith-Rae, Zhu, Ying, Dinger, Marcel E., Cowley, Mark J., Kirk, Edwin P., Roscioli, Tony, Sachdev, Rani, Duffey, Michael E., Bye, Ann, Bhattacharjee, Arin

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Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol by Robertson, Eden G, Kelada, Lauren, Best, Stephanie, Goranitis, I, Grainger, Natalie, Le Marne, Fleur, Pierce, Kristine, Nevin, Suzanne M, Macintosh, Rebecca, Beavis, Erin, Sachdev, Rani, Bye, Annie, Palmer, Elizabeth E

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Comparison of Clinical-Pathologic Characteristics and Outcomes of True Interval and Screen-Detected Invasive Breast Cancer Among Participants of a Canadian Breast Screening Program... by Rayson, Daniel, Payne, Jennifer Isabelle, Abdolell, Mohamed, Barnes, Penny J, MacIntosh, Rebecca F, Foley, Theresa, Younis, Tallal, Burns, Ariel, Caines, Judy

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Impact of routine cell block preparation on results of head and neck fine needle aspirates by Carter, Michael D., Moore, David P., MacIntosh, Rebecca F., Bullock, Martin J.

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Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies by Nevin, Suzanne M., Wakefield, Claire E., Dadich, Ann, LeMarne, Fleur, Macintosh, Rebecca, Beavis, Erin, Sachdev, Rani, Bye, Ann, Nunn, Kenneth, Palmer, Elizabeth E.

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Quality of life in caregivers of a child with a developmental and epileptic encephalopathy by Robertson, Eden G., Kelada, Lauren, Best, Stephanie, Goranitis, Ilias, Pierce, Kristine, Roberts, Natalie J, Sachdev, Rani, Le Marne, Fleur, Macintosh, Rebecca, Beavis, Erin, Bye, Annie, Palmer, Elizabeth E.

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Fine-needle aspiration cytology of mammary fibroadenoma: A comparison of ThinPrep® and cytospin preparations by Yen Ly, Thai, Barnes, Penny J., MacIntosh, Rebecca F.

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Challenges in seizure control in ATP6V0C deficiency: A longitudinal case report by Selvanathan, Arthavan, Macintosh, Rebecca, Johnson, Alexandra, Sarkozy, Vanessa, Neville, Kristen, Sachdev, Rani

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Ductal carcinoma in situ in core biopsies containing invasive breast cancer: correlation with extensive intraductal component and lumpectomy margins by Dzierzanowski, Martin, Melville, Karen A, Barnes, Penny J, MacIntosh, Rebecca F, Caines, Judy S, Porter, Geoffrey A

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Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy by McKeon, Grace, Palmer, Elizabeth E., Macintosh, Rebecca, Nevin, Suzanne M., Wheatley, Lauren, Rosenbaum, Simon

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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures by Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.

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Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy by Nevin, Suzanne M, Wakefield, Claire E, Barlow‐Stewart, Kristine, McGill, Brittany C, Bye, Ann, Palmer, Elizabeth E, Dale, Russell C, Gill, Deepak, Kothur, Kavitha, Boggs, Kirsten, Le Marne, Fleur, Beavis, Erin, Macintosh, Rebecca, Sachdev, Rani

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Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty by Palmer, Elizabeth E, Sachdev, Rani, Beavis, Erin, Macintosh, Rebecca, Le Marne, Fleur A, Nevin, Suzanne M, Bye, Ann ME, Nunn, Kenneth

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Disclosing genetic information to family members without consent: Five Australian case studies by Tiller, Jane, Bilkey, Gemma, Macintosh, Rebecca, O'Sullivan, Sarah, Groube, Stephanie, Palover, Marili, Pachter, Nicholas, Rothstein, Mark, Lacaze, Paul, Otlowski, Margaret

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition by Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.

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“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy by Robertson, Eden G., Roberts, Natalie J., Le Marne, Fleur, Beavis, Erin, Macintosh, Rebecca, Kelada, Lauren, Best, Stephanie, Goranitis, Ilias, Pierce, Kristine, Gill, Deepak, Sachdev, Rani, Bye, Ann, Palmer, Elizabeth E.

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