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2024 Conference Publication Disability support workers' perspectives on healthcare for people with intellectual disability and autistic peopleBrooker, K., Beck, C., Vinayagam, R., Giesberts, A. and Franklin, C. (2024). Disability support workers' perspectives on healthcare for people with intellectual disability and autistic people. Re‐imagining Connections, The 17th IASSIDD World Congress, Chicago, IL United States, 5 - 8 August 2024. Chichester, West Sussex United Kingdom: Wiley-Blackwell. doi: 10.1111/jir.13166 |
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2024 Journal Article De novo variants in immune regulatory genes in Down syndrome regression disorderJafarpour, Saba, Banerjee, Abhik K., Khoshnood, Mellad M., Vogel, Benjamin N., Boyd, Natalie K., Nguyen, Lina, Partridge, Rebecca, Santoro, Stephanie L., Gombolay, Grace Y., Fisher, Kristen S., de Asua, Diego Real, del Ortega, Maria Carmen, Franklin, Cathy, Rafii, Michael S. and Santoro, Jonathan D. (2024). De novo variants in immune regulatory genes in Down syndrome regression disorder. Journal of Neurology, 271 (8), 5567-5576. doi: 10.1007/s00415-024-12521-y |
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2024 Conference Publication Catatonia in autism and intellectual disabilityFranklin, C. (2024). Catatonia in autism and intellectual disability. RANZCP 2024 Congress, Canberra, ACT, Australia, 19 - 23 May 2024. London, United Kingdom: Sage Publications. doi: 10.1177/00048674241241938 |
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2024 Conference Publication Down Syndrome Regression disorderFranklin, C. (2024). Down Syndrome Regression disorder. RANZCP 2024 Congress, Canberra, ACT, Australia, 19 - 23 May 2024. London, United Kingdom: Sage Publications. doi: 10.1177/00048674241241938 |
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2024 Conference Publication Clinical conundrums: neuropsychiatric presentations among people with intellectual disabilityTrollor, J., Koncz, R., McDonald, J., Franklin, C. and Delves, M. (2024). Clinical conundrums: neuropsychiatric presentations among people with intellectual disability. RANZCP 2024 Congress, Canberra, ACT, Australia, 19 - 23 May 2024. London, United Kingdom: Sage Publications. doi: 10.1177/00048674241241938 |
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2024 Conference Publication Building the capacity of mainstream mental health service staff to work effectively with people with autism or intellectual disability: the EASY-Health projectFranklin, C. and Brooker, K. (2024). Building the capacity of mainstream mental health service staff to work effectively with people with autism or intellectual disability: the EASY-Health project. RANZCP 2024 Congress, Canberra, ACT Australia, 19 - 23 May 2024. London, United Kingdom: SAGE Publications. doi: 10.1177/00048674241241938 |
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2024 Conference Publication Barriers to timely diagnosis of catatonia in people with development disability: a qualitative studyJohnston, M., Brooker, K. and Franklin, C. (2024). Barriers to timely diagnosis of catatonia in people with development disability: a qualitative study. RANZCP 2024 Congress, Canberra, ACT Australia, 19 - 23 May 2024. London, United Kingdom: SAGE Publications. doi: 10.1177/00048674241241938 |
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2024 Conference Publication Experiences of mental health service staff working with people with autism or intellectual disabilityBrooker, K. and Franklin, C. (2024). Experiences of mental health service staff working with people with autism or intellectual disability. RANZCP 2024 Congress, Canberra, ACT Australia, 19 - 23 May 2024. London, United Kingdom: SAGE Publications. doi: 10.1177/00048674241241938 |
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2024 Conference Publication Intellectual disability and autism in mainstream mental health careFranklin, C., Johnston, M. and Brooker, K. (2024). Intellectual disability and autism in mainstream mental health care. RANZCP 2024 Congress, Canberra, ACT Australia, 19 - 23 May 2024. London, United Kingdom: SAGE Publications. doi: 10.1177/00048674241241938 |
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2024 Conference Publication Neuroimaging Abnormalities Predict Immunotherapy Responsiveness in Down Syndrome Regression DisorderSantoro, Jonathan, Khoshnood, Mellad, Jafarpour, Saba, Nguyen, Lina, Boyd, Natalie, Vogel, Benjamin, Kammeyer, Ryan, Patel, Lina, Manning, Melanie, Filipink, Robyn, Santoro, Stephanie, Franklin, Catherine, Tamrazi, Benita, Worley, Gordon, Espinosa, Joaquin and Rafii, Michael (2024). Neuroimaging Abnormalities Predict Immunotherapy Responsiveness in Down Syndrome Regression Disorder. 2024 American Academy of Neurology Annual Meeting, Denver, CO United States, 13-18 April 2024. Philadelphia, PA United States: Wolters Kluwer. doi: 10.1212/wnl.0000000000205290 |
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2024 Journal Article Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorderSantoro, Jonathan D., Khoshnood, Mellad M., Jafarpour, Saba, Nguyen, Lina, Boyd, Natalie K., Vogel, Benjamin N., Kammeyer, Ryan, Patel, Lina, Manning, Melanie A., Rachubinski, Angela L., Filipink, Robyn A., Baumer, Nicole T., Santoro, Stephanie L., Franklin, Catherine, Tamrazi, Benita, Yeom, Kristen W., Worley, Gordon, Espinosa, Joaquin M. and Rafii, Michael S. (2024). Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder. Annals of Clinical and Translational Neurology, 11 (4), 1034-1045. doi: 10.1002/acn3.52023 |
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2024 Journal Article Intellectual disability healthcare in Australia: Progress, challenges, and future directionsBrooker, K. S., De Greef, R., Trollor, J. N., Franklin, C. S. and Weise, J. (2024). Intellectual disability healthcare in Australia: Progress, challenges, and future directions. Journal of Policy and Practice in Intellectual Disabilities, 21 (1) e12497. doi: 10.1111/jppi.12497 |
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2024 Journal Article Health checks for people with down syndrome: a pooled analysis of three randomized controlled trialsWare, Robert S., Franklin, Catherine, McPherson, Lyn and Lennox, Nicholas G. (2024). Health checks for people with down syndrome: a pooled analysis of three randomized controlled trials. Disabilities, 4 (1), 101-110. doi: 10.3390/disabilities4010007 |
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2024 Journal Article Australian psychiatrists and trainee psychiatrists’ perceptions of chemical restraint of adults with intellectual disabilityEdwards, Nicole, Franklin, Catherine, king, Julie and Watling, Hanna (2024). Australian psychiatrists and trainee psychiatrists’ perceptions of chemical restraint of adults with intellectual disability. Journal of Mental Health Research in Intellectual Disabilities, 17 (1), 65-77. doi: 10.1080/19315864.2023.2192689 |
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2023 Conference Publication Down Syndrome regression disorderFranklin, C. S. (2023). Down Syndrome regression disorder. 25th SSBP International Research Symposium: Expanding a Global Perspective on Behavioural Phenotypes, Virtual, 14 – 15 September 2023. Hoboken, NJ, United States: Wiley. |
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2023 Journal Article Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorderSantoro, Jonathan D, Spinazzi, Noemi A, Filipink, Robyn A, Hayati-Rezvan, Panteha, Kammeyer, Ryan, Patel, Lina, Sannar, Elise A, Dwyer, Luke, Banerjee, Abhik K, Khoshnood, Mellad, Jafarpour, Saba, Boyd, Natalie K, Partridge, Rebecca, Gombolay, Grace Y, Christy, Alison L, Real de Asua, Diego, Del Carmen Ortega, Maria, Manning, Melanie A, Van Mater, Heather, Worley, Gordan, Franklin, Cathy, Stanley, Maria A, Brown, Ruth, Capone, George T, Quinn, Eileen A and Rafii, Michael S (2023). Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder. Translational Psychiatry, 13 (1) 276, 276. doi: 10.1038/s41398-023-02579-z |
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2023 Book Chapter Forensic Aspects of Neurodevelopmental Disorders: An Australasian PerspectiveFranklin, Catherine (2023). Forensic Aspects of Neurodevelopmental Disorders: An Australasian Perspective. Forensic Aspects of Neurodevelopmental Disorders Forensic Aspects of Neurodevelopmental Disorders: A Clinician's Guide. (pp. 277-299) edited by Jane M. McCarthy, Regi T. Alexander and Eddie Chaplin. Cambridge, United Kingdom: University of Cambridge. doi: 10.1017/9781108955522.023 |
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2023 Journal Article Cardiometabolic profiles in children and adults with overweight and obesity and down syndromeOreskovic, Nicolas M., Baumer, Nicole T., Di Camillo, Chiara, Cornachia, Michelle, Franklin, Catherine, Hart, Sarah J., Kishnani, Priya S., McCormick, Andrew, Milliken, Anna L., Patsiogiannis, Vasiliki, Pawlowski, Katherine G., Santoro, Stephanie L., Sargado, Sabrina, Scoppola, Vittorio, Torres, Amy, Valentini, Diletta, Vellody, Kishore, Villani, Alberto and Skotko, Brian G. (2023). Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome. American Journal of Medical Genetics, Part A, 191 (3), 813-822. doi: 10.1002/ajmg.a.63088 |
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2023 Journal Article Response to Letter to the Editor by Palffy and GhaziuddinSantoro, Stephanie L., Baumer, Nicole T., Cornacchia, Michelle, Franklin, Catherine, Hart, Sarah J., Haugen, Kelsey, Hojlo, Margaret A., Horick, Nora, Kishnani, Priya S., Krell, Kavita, McCormick, Andrew, Milliken, Anna L., Oreskovic, Nicolas M., Pawlowski, Katherine G., Sargado, Sabrina, Torres, Amy, Valentini, Diletta, Vellody, Kishore and Skotko, Brian G. (2023). Response to Letter to the Editor by Palffy and Ghaziuddin. American Journal of Medical Genetics. Part A, 191 (5), 1470-1473. doi: 10.1002/ajmg.a.63116 |
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2022 Journal Article Unexplained regression in Down syndrome: Management of 51 patients in an international patient databaseSantoro, Stephanie L., Baumer, Nicole T., Cornacchia, Michelle, Franklin, Catherine, Hart, Sarah J., Haugen, Kelsey, Hojlo, Margaret A., Horick, Nora, Kishnani, Priya S., Krell, Kavita, McCormick, Andrew, Milliken, Anna L., Oreskovic, Nicolas M., Pawlowski, Katherine G., Sargado, Sabrina, Torres, Amy, Valentini, Diletta, Vellody, Kishore and Skotko, Brian G. (2022). Unexplained regression in Down syndrome: Management of 51 patients in an international patient database. American Journal of Medical Genetics. Part A, 188 (10), 3049-3062. doi: 10.1002/ajmg.a.62922 |
