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Cooperstein IB, Marwaha S, Ward A, Kobren SN, Carter JN, Undiagnosed Diseases Network, Wheeler MT, Marth GT. An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. Genome Med. 2025 Oct 21;17(1):127 PMID: 41121346 PMCID: PMC12539062 SCOPUS ID: 2-s2.0-105019725183 10/22/2025
Correll C, Burciu A, Bansal A, Dennos A, Narayanswamy D, Aubrun E, Schanberg LE, Yuhan L, Schneider R, Balevic S, Kimura Y, Beukelman T, CARRA Registry investigators. Long-term safety of canakinumab in patients with systemic juvenile idiopathic arthritis: 5-year results from the Childhood Arthritis and Rheumatology Research Alliance (CARRA) registry. Pediatr Rheumatol Online J. 2025 Oct 21;23(1):105 PMID: 41121260 PMCID: PMC12538899 SCOPUS ID: 2-s2.0-105019741968 10/22/2025
Stewart R, Ezell KM, Bell DS, Corner B, McMinn A, Cogan JD, Hamid R, Rives L, Phillips JA 3rd, Paddu N, Srivastava G, Marom R, Ladha FA, Soler-Alfonso C, Franciskovich R, Koziura M, Pruthi S, Richard G, Sheedy CB, Undiagnosed Diseases Network, Cassini T. Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism. Am J Med Genet A. 2026 Jan;200(1):205-214 PMID: 40838347 SCOPUS ID: 2-s2.0-105013894374 08/21/2025
Kobren SN, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Corona RI, Carvalho Neto GV, Willett J, Berselli M, Ronchetti W, Nelson SF, Martinez-Agosto JA, Sherwood R, Krier J, Kohane IS, Undiagnosed Diseases Network, Sunyaev SR. Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations. Nat Commun. 2025 Aug 07;16(1):7267 PMID: 40770127 PMCID: PMC12328722 SCOPUS ID: 2-s2.0-105013076026 08/07/2025
Mannion ML, Aswani MS, Hearld KR, Smitherman EA, Timmerman L, Curtis JR, CARRA Registry Investigators. Disease activity at two consecutive registry visits and subsequent medication escalation for patients with juvenile idiopathic arthritis in the CARRA registry. Pediatr Rheumatol Online J. 2025 Jul 22;23(1):77 PMID: 40696394 PMCID: PMC12285171 SCOPUS ID: 2-s2.0-105012233236 07/23/2025
Fazal S, Dashnow H, Dohrn MF, Raposo J, Hiatt L, Danzi MC, Xu IRL, Toro C, Adams DR, Usdin K, Hayward B, Kobren SN, Sunyaev SR, Spillmann RC, Shashi V, Rebelo A, Bademci G, Undiagnosed Diseases Network, Tekin M, Quinlan AR, Zuchner S. A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort. Genet Med. 2025 Aug;27(8):101462 PMID: 40417743 PMCID: PMC12318663 SCOPUS ID: 2-s2.0-105009588600 05/26/2025
Ringold S, Ong MS, Tomlinson G, Natter MD, Schanberg LE, Del Gaizo V, Feldman BM, Murphy KL, Kimura Y, CARRA Registry STOP‐JIA Investigators. Three-Year Outcomes and Latent Class Trajectory Analysis of the Childhood Arthritis and Rheumatology Research Alliance Polyarticular JIA Consensus Treatment Plans Study. Arthritis Rheumatol. 2025 Oct;77(10):1433-1441 PMID: 40344490 SCOPUS ID: 2-s2.0-105011142884 05/09/2025
Jacovas VC, Zelnick M, McNulty S, Ross JE, Khurana N, Pan X, Nieto A, Martin S, McLean B, Elnagheeb MA, Cowan MJ, Puck JM, Hershfield M, Verbsky J, Walter J, Allenspach E, Chan AY, van Oers NSC, Ghosh R, Piazza M, Yuan B, Notarangelo LD, Johnson BA, Chinn IK. The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2. medRxiv. 2025 Feb 13 PMID: 39990552 PMCID: PMC11844601 02/24/2025
Bosticardo M, Dobbs K, Delmonte OM, Martins AJ, Pala F, Kawai T, Kenney H, Magro G, Rosen LB, Yamazaki Y, Yu HH, Calzoni E, Lee YN, Liu C, Stoddard J, Niemela J, Fink D, Castagnoli R, Ramba M, Cheng A, Riley D, Oikonomou V, Shaw E, Belaid B, Keles S, Al-Herz W, Cancrini C, Cifaldi C, Baris S, Sharapova S, Schuetz C, Gennery AR, Freeman AF, Somech R, Choo S, Giliani SC, Güngör T, Drozdov D, Meyts I, Moshous D, Neven B, Abraham RS, El-Marsafy A, Kanariou M, King A, Licciardi F, Cruz-Muñoz ME, Palma P, Poli C, Adeli M, Algeri M, Alroqi FJ, Bastard P, Bergerson JRE, Booth C, Brett A, Burns SO, Butte MJ, Padem N, de la Morena M, Dbaibo G, de Ravin SS, Dimitrova D, Djidjik R, Dorna MB, Dutmer CM, Elfeky R, Facchetti F, Fuleihan RL, Geha RS, Gonzalez-Granado LI, Haljasmägi L, Ale H, Hayward A, Hifanova AM, Ip W, Kaplan B, Kapoor N, Karakoc-Aydiner E, Kärner J, Keller MD, Dávila Saldaña BJ, Kiykim A, Kuijpers TW, Kuznetsova EE, Latysheva EA, Leiding JW, Locatelli F, Alva-Lozada G, McCusker C, Celmeli F, Morsheimer M, Ozen A, Parvaneh N, Pasic S, Plebani A, Preece K, Prockop S, Sakovich IS, Starkova EE, Torgerson T, Verbsky J, Walter JE, Ward B, Wisner EL, Draper D, Myint-Hpu K, Truong PM, Lionakis MS, Similuk MB, Centralized Sequencing Program Group§§, Walkiewicz MA, Klion A, Holland SM, Oguz C, Bogunovic D, Kisand K, Su HC, Tsang JS, Kuhns D, Villa A, Rosenzweig SD, Pittaluga S, Notarangelo LD, Centralized Sequencing Program Group. Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature. Sci Immunol. 2025 Jan 10;10(103):eadq1697 PMID: 39792639 PMCID: PMC12087669 SCOPUS ID: 2-s2.0-85215861817 01/10/2025
Randell RL, Schanberg LE, Beard C, Phillips T, Hornik CP, Cohen-Wolkowiez M, Balevic SJ, Rubinstein T, Vasquez N, Wahezi D, Tanner T, Peskin M, Rothschild E, Perfetto J, Guzman L, Buckley L, Patrick A, Datyner E, Blackmon B, Graham T, Henderson L, Lo M, Lee P, Sundel R, Meidan E, Halyabar O, Nigrovic P, Son MB, Hausmann J, McBrearty K, Cohen E, Chang M, Chang J, Dedeoglu F, Cidon M, Reyhan I, Haro S, Shaham B, Cancino A, Brown D, Marzan K, Weiss P, Lerman M, Moreno J, Canna S, Devine R, Torok K, Rosenkranz M, Patel J, Stapp H, Kienzle B, Newhall L, Klein-Gitelman M, Miller M, Hiskey M, Nolan B, Amoruso M, De Ranieri D, Patel P, Lytch A, Cooper A, Holland MJ, Favier L, Fox E, Ibarra M, Hoffart C, Jones J, Harris J, Srinivasalu H, Connor R, Sule S, Ronis T, Ogbonnaya-Whittesley S, Dizon B, Sherman M, Dunnock K, Angeles-Han S, Vega-Fernandez P, Quinlan-Waters M, Brunner H, Schulert G, Grom A, Henrickson M, Huggins J, Lovell D, Ting T, Ogbu E, Zeft A, Robinson A, Brooks E, Panupattanapong S, Parsons A, Edelheit B, Lapin B, Twachtman-Bassett J, Tory H, Fennell J, Jiang Y, Rodgers L, Swaffar C. Effect of an Electronic Pill Bottle on Hydroxychloroquine Adherence in Pediatric Lupus: Results of a Novel Direct-to-Family Pilot Trial Acr Open Rheumatology. January 2025;7(1) SCOPUS ID: 2-s2.0-85216072708 01/01/2025