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Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM 3rd, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA Jr, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Pinto E Vairo F, et al. Among authors: flanagan ep. J Transl Med. 2023 Jun 23;21(1):410. doi: 10.1186/s12967-023-04183-7. J Transl Med. 2023. PMID: 37353797 Free article.
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM 3rd, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA Jr, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Pinto E Vairo F, et al. Among authors: flanagan ep. J Transl Med. 2024 Apr 30;22(1):400. doi: 10.1186/s12967-024-05185-9. J Transl Med. 2024. PMID: 38689323 Free PMC article. No abstract available.
Exposure to TNF inhibitors is rare at MOGAD presentation.
Redenbaugh V, Flanagan EP, Floris V, Zara P, Bhatti MT, Sanchez F, Koster M, Mariotto S, Pittock SJ, Chen JJ, Cauli A, Solla P, Sechi E. Redenbaugh V, et al. Among authors: flanagan ep. J Neurol Sci. 2022 Jan 15;432:120044. doi: 10.1016/j.jns.2021.120044. Epub 2021 Oct 27. J Neurol Sci. 2022. PMID: 34728073 No abstract available.
Diagnostic value of aquaporin-4-IgG live cell based assay in neuromyelitis optica spectrum disorders.
Redenbaugh V, Montalvo M, Sechi E, Buciuc M, Fryer JP, McKeon A, Lennon VA, Mills JR, Weinshenker BG, Wingerchuk DM, Chen JJ, Tariq Bhatti M, Lopez Chiriboga AS, Pittock SJ, Flanagan EP. Redenbaugh V, et al. Among authors: flanagan ep. Mult Scler J Exp Transl Clin. 2021 Nov 26;7(4):20552173211052656. doi: 10.1177/20552173211052656. eCollection 2021 Oct. Mult Scler J Exp Transl Clin. 2021. PMID: 34868626 Free PMC article.
Sustained, complete response to pexidartinib in a patient with CSF1R-mutated Erdheim-Chester disease.
Abeykoon JP, Lasho TL, Dasari S, Rech KL, Ranatunga WK, Manske MK, Tischer A, Ravindran A, Young JR, Tobin WO, Flanagan EP, Nowakowski KE, Ruan GJ, Shah MV, Bennani NN, Vassallo R, Ryu JH, Koster MJ, Davidge-Pitts CJ, Patnaik MM, Wu X, Witzig TE, Goyal G, Go RS; Mayo Clinic-University of Alabama at Birmingham Histiocytosis Working Group. Abeykoon JP, et al. Among authors: flanagan ep. Am J Hematol. 2022 Mar 1;97(3):293-302. doi: 10.1002/ajh.26441. Epub 2022 Jan 3. Am J Hematol. 2022. PMID: 34978715 Free PMC article.
Peripheral nervous system manifestations of MOG antibody associated disease.
Gupta P, Paul P, Redenbaugh V, Guo Y, Lucchinetti C, Abdulrahman Y, Datta A, Shah S, Klein CJ, Pittock SJ, Flanagan EP, Dubey D. Gupta P, et al. Among authors: flanagan ep. Ann Clin Transl Neurol. 2024 Apr;11(4):1046-1052. doi: 10.1002/acn3.52001. Epub 2024 Jan 17. Ann Clin Transl Neurol. 2024. PMID: 38234084 Free PMC article.
Elevated LGI1-IgG CSF index predicts worse neurological outcome.
Gadoth A, Zekeridou A, Klein CJ, Thoreson CJ, Majed M, Dubey D, Flanagan EP, McKeon A, Jenkins SM, Lennon VA, Pittock SJ. Gadoth A, et al. Among authors: flanagan ep. Ann Clin Transl Neurol. 2018 Apr 2;5(5):646-650. doi: 10.1002/acn3.561. eCollection 2018 May. Ann Clin Transl Neurol. 2018. PMID: 29761127 Free PMC article.
281 results