STORM Lab: Publications
Jafarpour S, Banerjee AK, Khoshnood MM, Vogel BN, Boyd NK, Nguyen L, Partridge R, Santoro SL, Gombolay GY, Fisher KS, de Asua DR, Del Ortega MC, Franklin C, Rafii MS, Santoro JD. De novo variants in immune regulatory genes in Down syndrome regression disorder. J Neurol. 2024 Aug;271(8):5567-5576. doi: 10.1007/s00415-024-12521-y. PMID: 38909119
Santoro JD, Khoshnood MM, Jafarpour S, Nguyen L, Boyd NK, Vogel BN, Kammeyer R, Patel L, Manning MA, Rachubinski AL, Filipink RA, Baumer NT, Santoro SL, Franklin C, Tamrazi B, Yeom KW, Worley G, Espinosa JM, Rafii MS. Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder. Ann Clin Transl Neurol. 2024 Apr;11(4):1034-1045. doi: 10.1002/acn3.52023. PMID: 38375538
Boyd NK, Nguyen J, Khoshnood MM, Jiang T, Nguyen L, Mendez L, Spinazzi NA, Manning MA, Rafii MS, Santoro JD. Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder. J Neurodev Disord. 2023 Oct 25;15(1):35. doi: 10.1186/s11689-023-09503-y. PMID: 37880588
Santoro JD, Spinazzi NA, Filipink RA, Hayati-Rezvan P, Kammeyer R, Patel L, Sannar EA, Dwyer L, Banerjee AK, Khoshnood M, Jafarpour S, Boyd NK, Partridge R, Gombolay GY, Christy AL, Real de Asua D, Del Carmen Ortega M, Manning MA, Van Mater H, Worley G, Franklin C, Stanley MA, Brown R, Capone GT, Quinn EA, Rafii MS. Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder. Transl Psychiatry. 2023 Aug 8;13(1):276. doi: 10.1038/s41398-023-02579-z. PMID: 37553347
Wang S, Patel L, Sannar EA, Khoshnood M, Boyd NK, Mendez L, Spinazzi NA, Quinn EA, Rafii MS, Santoro JD. Adverse childhood experiences and the development of Down syndrome regression disorder. Am J Med Genet A. 2023 Jul;191(7):1769-1782. doi: 10.1002/ajmg.a.63199. PMID: 37017126.
Santoro JD, Beukelman T, Hemingway C, Hokkanen SRK, Tennigkeit F, Chitnis T. Attack phenotypes and disease course in pediatric MOGAD. Ann Clin Transl Neurol. 2023 May;10(5):672-685. doi: 10.1002/acn3.51759. PMID: 37000895
Jafarpour S, Banerjee A, Boyd NK, Vogel BN, Paulsen KC, Ahsan N, Mitchell WG, Jeste SS, Santoro JD. Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases. J Neurol. 2022 Dec;269(12):6512-6529. doi: 10.1007/s00415-022-11325-2. PMID: 35960392
Santoro JD, Patel L, Kammeyer R, Filipink RA, Gombolay GY, Cardinale KM, Real de Asua D, Zaman S, Santoro SL, Marzouk SM, Khoshnood M, Vogel BN, Tanna R, Pagarkar D, Dhanani S, Ortega MDC, Partridge R, Stanley MA, Sanders JS, Christy A, Sannar EM, Brown R, McCormick AA, Van Mater H, Franklin C, Worley G, Quinn EA, Capone GT, Chicoine B, Skotko BG, Rafii MS. Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus. Front Neurol. 2022 Jul 15;13:940175. doi: 10.3389/fneur.2022.940175. PMID: 35911905
Santoro JD, Partridge R, Tanna R, Pagarkar D, Khoshnood M, Rehmani M, Kammeyer RM, Gombolay GY, Fisher K, Conravey A, El-Dahr J, Christy AL, Patel L, Manning MA, Van Mater H, Rafii MS, Quinn EA. Evidence of neuroinflammation and immunotherapy responsiveness in individuals with Down syndrome regression disorder. J Neurodev Disord. 2022 Jun 3;14(1):35. doi: 10.1186/s11689-022-09446-w. PMID: 35659536
Santoro JD, Lee S, Wang AC, Ho E, Nagesh D, Khoshnood M, Tanna R, Durazo-Arvizu RA, Manning MA, Skotko BG, Steinberg GK, Rafii MS. Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease. Front Neurol. 2021 Sep 8;12:724969. doi: 10.3389/fneur.2021.724969. PMID: 34566869