|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
2022 Journal Article A systematic review of fragile X-associated neuropsychiatric disordersFlavell, Joshua, Franklin, Catherine and Nestor, Peter J. (2022). A systematic review of fragile X-associated neuropsychiatric disorders. The Journal of Neuropsychiatry and Clinical Neurosciences, 35 (2), 110-120. doi: 10.1176/appi.neuropsych.21110282 |
|
2022 Journal Article Assessment and diagnosis of Down syndrome regression disorder: international expert consensusSantoro, Jonathan D., Patel, Lina, Kammeyer, Ryan, Filipink, Robyn A., Gombolay, Grace Y., Cardinale, Kathleen M., Real de Asua, Diego, Zaman, Shahid, Santoro, Stephanie L., Marzouk, Sammer M., Khoshnood, Mellad, Vogel, Benjamin N., Tanna, Runi, Pagarkar, Dania, Dhanani, Sofia, Ortega, Maria del Carmen, Partridge, Rebecca, Stanley, Maria A., Sanders, Jessica S., Christy, Alison, Sannar, Elise M., Brown, Ruth, McCormick, Andrew A., Van Mater, Heather, Franklin, Cathy, Worley, Gordon, Quinn, Eileen A., Capone, George T., Chicoine, Brian ... Rafii, Michael S. (2022). Assessment and diagnosis of Down syndrome regression disorder: international expert consensus. Frontiers in Neurology, 13 940175, 940175. doi: 10.3389/fneur.2022.940175 |
|
2019 Journal Article Unexplained regression in Down syndrome: 35 cases from an international Down syndrome databaseSantoro, Stephanie L., Cannon, Sheila, Capone, George, Franklin, Cathy, Hart, Sarah J., Hobensack, Victoria, Kishnani, Priya S., Macklin, Eric A., Manickam, Kandamurugu, McCormick, Andrew, Nash, Patricia, Oreskovic, Nicolas M., Patsiogiannis, Vasiliki, Steingass, Katherine, Torres, Amy, Valentini, Diletta, Vellody, Kishore and Skotko, Brian G. (2019). Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. Genetics in Medicine, 22 (4), 767-776. doi: 10.1038/s41436-019-0706-8 |
|
2018 Journal Article Adult with autism spectrum disorder presenting with insidious onset of catatoniaWhite, Melissa and Franklin, Catherine (2018). Adult with autism spectrum disorder presenting with insidious onset of catatonia. Australian and New Zealand Journal of Psychiatry, 52 (11), 1092-1093. doi: 10.1177/0004867418802898 |
|
2017 Journal Article Psychopathology of adolescents with an intellectual disability who present to general hospital servicesTheodoratos, Oreste, McPherson, Lyn, Franklin, Catherine, Tonge, Bruce, Einfeld, Stewart, Lennox, Nicholas and Ware, Robert S. (2017). Psychopathology of adolescents with an intellectual disability who present to general hospital services. Australasian Psychiatry, 25 (5), 481-485. doi: 10.1177/1039856217706820 |
|
2016 Journal Article Prescribing psychotropic drugs to adults with an intellectual disabilityTrollor, Julian N., Salomon, Carmela and Franklin, Catherine (2016). Prescribing psychotropic drugs to adults with an intellectual disability. Australian Prescriber, 39 (4), 126-130. doi: 10.18773/austprescr.2016.048 |
|
2014 Journal Article Obituary: Professor Gregory O'Brien (1955-2014)Franklin, Cathy (2014). Obituary: Professor Gregory O'Brien (1955-2014). Australasian Psychiatry, 22 (6), 601-602. doi: 10.1177/1039856214558986c |
