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Page 1
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE. Girirajan S, et al. Among authors: filipink ra. N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395. Epub 2012 Sep 12. N Engl J Med. 2012. PMID: 22970919 Free PMC article.
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
Liao J, Coffman KA, Locker J, Padiath QS, Nmezi B, Filipink RA, Hu J, Sathanoori M, Madan-Khetarpal S, McGuire M, Schreiber A, Moran R, Friedman N, Hoffner L, Rajkovic A, Yatsenko SA, Surti U. Liao J, et al. Among authors: filipink ra. Mol Genet Genomic Med. 2021 Apr;9(4):e1647. doi: 10.1002/mgg3.1647. Epub 2021 Mar 5. Mol Genet Genomic Med. 2021. PMID: 33666368 Free PMC article.
Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.
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. Santoro JD, et al. Among authors: filipink ra. Front Neurol. 2022 Jul 15;13:940175. doi: 10.3389/fneur.2022.940175. eCollection 2022. Front Neurol. 2022. PMID: 35911905 Free PMC article.
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.
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. Santoro JD, et al. Among authors: filipink ra. Ann Clin Transl Neurol. 2024 Apr;11(4):1034-1045. doi: 10.1002/acn3.52023. Epub 2024 Feb 20. Ann Clin Transl Neurol. 2024. PMID: 38375538 Free PMC article.
Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder.
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. Santoro JD, et al. Among authors: filipink ra. Transl Psychiatry. 2023 Aug 8;13(1):276. doi: 10.1038/s41398-023-02579-z. Transl Psychiatry. 2023. PMID: 37553347 Free PMC article.
Down syndrome regression disorder: updates and therapeutic advances.
Santoro JD, Filipink RA, Baumer NT, Bulova PD, Handen BL. Santoro JD, et al. Among authors: filipink ra. Curr Opin Psychiatry. 2023 Mar 1;36(2):96-103. doi: 10.1097/YCO.0000000000000845. Epub 2022 Dec 29. Curr Opin Psychiatry. 2023. PMID: 36705008 Review.
12 results