Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder
Santoro, Jonathan D., Khoshnood, Mellad M., Nguyen, Lina, Vogel, Benjamin N., Boyd, Natalie K., Paulsen, Kelli C., Rafii, Michael S.
Published in Journal of autism and developmental disorders (16.08.2023)
Published in Journal of autism and developmental disorders (16.08.2023)
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Journal Article
Impact of endocrine dysregulation on disability and non-motor symptoms in pediatric onset multiple sclerosis
Abe, Justin, Jafarpour, Saba, Vu, My H, O'Brien, Devon, Boyd, Natalie K, Vogel, Benjamin N, Nguyen, Lina, Paulsen, Kelli C, Saucier, Laura E, Ahsan, Nusrat, Mitchell, Wendy G, Santoro, Jonathan D
Published in Frontiers in neurology (07.12.2023)
Published in Frontiers in neurology (07.12.2023)
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Journal Article
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder
Santoro, 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, Rafii, Michael S
Published in Annals of clinical and translational neurology (01.04.2024)
Published in Annals of clinical and translational neurology (01.04.2024)
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Journal Article
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome
Jain, Aarushi, Boyd, Natalie K., Paulsen, Kelli C., Vogel, Benjamin N., Nguyen, Lina, Santoro, Jonathan D.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2023)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2023)
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Journal Article
Down Syndrome and Autoimmune Disease
Hom, Brian, Boyd, Natalie K., Vogel, Benjamin N., Nishimori, Nicole, Khoshnood, Mellad M., Jafarpour, Saba, Nagesh, Deepti, Santoro, Jonathan D.
Published in Clinical reviews in allergy & immunology (01.06.2024)
Published in Clinical reviews in allergy & immunology (01.06.2024)
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Journal Article
De novo variants in immune regulatory genes in Down syndrome regression disorder
Jafarpour, 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., Santoro, Jonathan D.
Published in Journal of neurology (01.08.2024)
Published in Journal of neurology (01.08.2024)
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Journal Article
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder
Santoro, Jonathan D., Jafarpour, Saba, Khoshnood, Mellad M., Boyd, Natalie K., Vogel, Benjamin N., Nguyen, Lina, Saucier, Laura E., Partridge, Rebecca, Tiongson, Emmanuelle, Ramos‐Platt, Leigh, Nagesh, Deepti, Ho, Eugenia, Rosser, Tena, Ahsan, Nusrat, Mitchell, Wendy G., Rafii, Michael S.
Published in American journal of medical genetics. Part A (01.05.2024)
Published in American journal of medical genetics. Part A (01.05.2024)
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Journal Article
Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases
Jafarpour, Saba, Banerjee, Abhik, Boyd, Natalie K., Vogel, Benjamin N., Paulsen, Kelli C., Ahsan, Nusrat, Mitchell, Wendy G., Jeste, Shafali S., Santoro, Jonathan D.
Published in Journal of neurology (01.12.2022)
Published in Journal of neurology (01.12.2022)
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Journal Article
Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus
Santoro, 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, Skotko, Brian G, Rafii, Michael S
Published in Frontiers in neurology (15.07.2022)
Published in Frontiers in neurology (15.07.2022)
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Journal Article