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2013 1
2014 1
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2017 6
2018 14
2019 22
2020 15
2021 30
2022 20
2023 25
2024 12

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Page 1
2022 American College of Rheumatology Guideline for Vaccinations in Patients With Rheumatic and Musculoskeletal Diseases.
Bass AR, Chakravarty E, Akl EA, Bingham CO, Calabrese L, Cappelli LC, Johnson SR, Imundo LF, Winthrop KL, Arasaratnam RJ, Baden LR, Berard R, Bridges SL Jr, Cheah JTL, Curtis JR, Ferguson PJ, Hakkarinen I, Onel KB, Schultz G, Sivaraman V, Smith BJ, Sparks JA, Vogel TP, Williams EA, Calabrese C, Cunha JS, Fontanarosa J, Gillispie-Taylor MC, Gkrouzman E, Iyer P, Lakin KS, Legge A, Lo MS, Lockwood MM, Sadun RE, Singh N, Sullivan N, Tam H, Turgunbaev M, Turner AS, Reston J. Bass AR, et al. Among authors: vogel tp. Arthritis Care Res (Hoboken). 2023 Mar;75(3):449-464. doi: 10.1002/acr.25045. Epub 2023 Jan 4. Arthritis Care Res (Hoboken). 2023. PMID: 36597813 Free PMC article.
STAT3 gain-of-function syndrome.
Vogel TP, Leiding JW, Cooper MA, Forbes Satter LR. Vogel TP, et al. Front Pediatr. 2023 Feb 9;10:770077. doi: 10.3389/fped.2022.770077. eCollection 2022. Front Pediatr. 2023. PMID: 36843887 Free PMC article. Review.
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P… See abstract for full author list ➔ Leiding JW, et al. Among authors: vogel tp. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
2022 American College of Rheumatology Guideline for Vaccinations in Patients With Rheumatic and Musculoskeletal Diseases.
Bass AR, Chakravarty E, Akl EA, Bingham CO, Calabrese L, Cappelli LC, Johnson SR, Imundo LF, Winthrop KL, Arasaratnam RJ, Baden LR, Berard R, Bridges SL Jr, Cheah JTL, Curtis JR, Ferguson PJ, Hakkarinen I, Onel KB, Schultz G, Sivaraman V, Smith BJ, Sparks JA, Vogel TP, Williams EA, Calabrese C, Cunha JS, Fontanarosa J, Gillispie-Taylor MC, Gkrouzman E, Iyer P, Lakin KS, Legge A, Lo MS, Lockwood MM, Sadun RE, Singh N, Sullivan N, Tam H, Turgunbaev M, Turner AS, Reston J. Bass AR, et al. Among authors: vogel tp. Arthritis Rheumatol. 2023 Mar;75(3):333-348. doi: 10.1002/art.42386. Epub 2023 Jan 4. Arthritis Rheumatol. 2023. PMID: 36597810
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
NLRC4 inflammasomopathies.
Romberg N, Vogel TP, Canna SW. Romberg N, et al. Among authors: vogel tp. Curr Opin Allergy Clin Immunol. 2017 Dec;17(6):398-404. doi: 10.1097/ACI.0000000000000396. Curr Opin Allergy Clin Immunol. 2017. PMID: 28957823 Free PMC article. Review.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation.
Masle-Farquhar E, Jackson KJL, Peters TJ, Al-Eryani G, Singh M, Payne KJ, Rao G, Avery DT, Apps G, Kingham J, Jara CJ, Skvortsova K, Swarbrick A, Ma CS, Suan D, Uzel G, Chua I, Leiding JW, Heiskanen K, Preece K, Kainulainen L, O'Sullivan M, Cooper MA, Seppänen MRJ, Mustjoki S, Brothers S, Vogel TP, Brink R, Tangye SG, Reed JH, Goodnow CC. Masle-Farquhar E, et al. Among authors: vogel tp. Immunity. 2022 Dec 13;55(12):2386-2404.e8. doi: 10.1016/j.immuni.2022.11.001. Epub 2022 Nov 28. Immunity. 2022. PMID: 36446385 Free article.
130 results