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2026 Journal Article Diagnostic complexities of autism and psychosis: A commentary on the ANZJP GRADE guidelines for the management of schizophreniaChalmers, Kirk, Laurie, Kirsty, Suetani, Shuichi, Franklin, Catherine, Scott, James G and Parker, Stephen (2026). Diagnostic complexities of autism and psychosis: A commentary on the ANZJP GRADE guidelines for the management of schizophrenia. Australian & New Zealand Journal of Psychiatry 00048674261461986, 48674261461986-48674261461986. doi: 10.1177/00048674261461986 |
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2026 Journal Article Opinion: On the reasons for underutilization of ECT in individuals with intellectual and developmental disabilityJohnston, Melanie, Brooker, Katie and Franklin, Catherine (2026). Opinion: On the reasons for underutilization of ECT in individuals with intellectual and developmental disability. Frontiers in Psychiatry, 17 1810364, 1-5. doi: 10.3389/fpsyt.2026.1810364 |
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2026 Journal Article Immunosuppressive Therapies in Down Syndrome Regression Disorder: A Prospective Observational Cohort Study (N2.002)Santoro, Jonathan, Kazerooni, Lilia, Lucas, Maeve, Yousuf, Mariam, Otey, Samuel, Nguyen, Lina, Anadani, Nidhiben, Manning, Melanie, Rachubinski, Angela, Kammeyer, Ryan, Spinazzi, Noemi, Franklin, Catherine, Quinn, Eileen, Espinosa, Joaquin and Rafii, Michael (2026). Immunosuppressive Therapies in Down Syndrome Regression Disorder: A Prospective Observational Cohort Study (N2.002). Neurology, 106 (11_Supplement_1) 681. doi: 10.1212/wnl.0000000000213058 |
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2026 Journal Article A comparative effectiveness study of lorazepam or IVIg versus no treatment for Down syndrome regression disorderSantoro, Jonathan D., Jafarpour, Saba, Rezvan, Panteha Hayati, Khoshnood, Mellad M., Vogel, Benjamin N., Nguyen, Lina, Kazerooni, Lilia, Spinazzi, Noemi A., Anadani, Nidhiben, Fisher, Kristen S., Filipink, Robyn A., Manning, Melanie A., Franklin, Cathy, Quinn, Eileen A. and Rafii, Michael S. (2026). A comparative effectiveness study of lorazepam or IVIg versus no treatment for Down syndrome regression disorder. Neurology and Therapy, 15 (3), 1099-1120. doi: 10.1007/s40120-026-00906-2 |
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2026 Journal Article The detection of Down syndrome arthritis in clinical practice: a multicenter, international pilot and feasibility study of a Down syndrome‐specific musculoskeletal screening toolJones, Jordan T., Talib, Nasreen, Cramer, Emily, Valentini, Diletta, Baumer, Nicole, Sargado, Sabrina, Oreskovic, Nicolas M., Santoro, Stephanie L., Krell, Kavita, Santoro, Jonathan D., Vellody, Kishore, McCormick, Andrew, Franklin, Catherine, Kishnani, Priya, Hart, Sarah, Spiridigliozzi, Gail, Kitchen, Jacqueline and Skotko, Brian G. (2026). The detection of Down syndrome arthritis in clinical practice: a multicenter, international pilot and feasibility study of a Down syndrome‐specific musculoskeletal screening tool. American Journal of Medical Genetics Part A, 200 (3) e64290, 653-660. doi: 10.1002/ajmg.a.64290 |
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2026 Journal Article Serum and cerebral folate are normal in Down Syndrome Regression DisorderSantoro, Jonathan D., Silverman, Mackenzie, Kazerooni, Lilia, Otey, Samuel T., Lucas, Maeve C., Yousuf, Mariam M., Koshnood, Mellad M., Spinazzi, Noemi A., Quinn, Eileen A., Franklin, Catherine, Liu, Taryn R., Jeste, Shafali S. and Rafii, Michael S. (2026). Serum and cerebral folate are normal in Down Syndrome Regression Disorder. Molecular autism, 17 (1). doi: 10.1186/s13229-026-00703-6 |
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2026 Journal Article Immunosuppression in down syndrome regression disorder: a prospective observational cohort studySantoro, Jonathan D, Kazerooni, Lilia, Lucas, Maeve C, Yousuf, Mariam M, Otey, Samuel T, Bouchard, Samuel, Frost, Kevin C, Nguyen, Lina, Anadani, Nidhiben A, Mahmud, Asef, Manning, Melanie A, Rachubinski, Angela L, Kammeyer, Ryan M, Patel, Lina, Koster, Lindsey E A, van Eeghen, Agnies M, Spinazzi, Noemi A, Franklin, Catherine, Quinn, Eileen A, Espinosa, Joaquin M and Rafii, Michael S (2026). Immunosuppression in down syndrome regression disorder: a prospective observational cohort study. Brain Communications, 8 (3) fcag203, 3. doi: 10.1093/braincomms/fcag203 |
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2025 Journal Article Health professional education in autism and intellectual disability: systematic reviewFranklin, Catherine, Green, Sinead, Brooker, Katie, de Greef, Ruby, Meurk, Carla and Heffernan, Edward (2025). Health professional education in autism and intellectual disability: systematic review. BJPsych Open, 11 (6) e238, 1-18. doi: 10.1192/bjo.2025.10842 |
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2025 Journal Article Caregiver perceived barriers to diagnosis and care in Down syndrome regression disorderAlag, Anya, Nishimori, Nicole A., Kazerooni, Lilia, Lucas, Maeve C., Huh, David J., Yousuf, Mariam M., Jafarpour, Saba, Franklin, Cathy, Quinn, Eileen A. and Santoro, Jonathan D. (2025). Caregiver perceived barriers to diagnosis and care in Down syndrome regression disorder. American Journal of Medical Genetics Part A, 200 (2) e64274, e64274-406. doi: 10.1002/ajmg.a.64274 |
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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 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 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 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 |
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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 |
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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 |
