Publications

2025

Volkmann ER, Assassi S, Denton CP, Simonovska R, Sambevski S, Alves M, Bernstein EJ. Outcomes in Systemic Sclerosis-Associated Interstitial Lung Disease Based on Serological Profiles: Focus on Anti-Centromere and Anti-RNA Polymerase III Antibodies. J Rheumatol. 2025 Apr 15:jrheum.2024-1063. doi: 10.3899/jrheum.2024-1063. Epub ahead of print. PMID: 40233987.

Luo Y, Assassi S, Mayes MD, Frech TM, Steen VD, Richardson C, Chung L, Sandorfi N, VanBuren JM, Harding M, Alvey JS, Skaug B, McMahan Z, Lakin KS, Zahn C, Bracken SJ, Lebiedz-Odrobina DJ, Molitor JA, Evnin LB, Moore DF, Shah A, Castelino FV, Volkmann ER, Hant FN, Makol A, Shah AA, Hummers LK, Gordon JK, Khanna D, Bernstein EJ. Use of Nintedanib for the Treatment of Systemic Sclerosis-associated Interstitial Lung Disease at Expert Scleroderma Centers in the United States. Ann Am Thorac Soc. 2025 Apr 10. doi: 10.1513/AnnalsATS.202410-1045RL. Epub ahead of print. PMID: 40208257.

Hinchcliff M, Khanna D, De Lorenzis E, Di Donato S, Carriero A, Ross RL, Huang S, Aren KA, Bernstein EJ, Carns M, Castelino FV, Domsic RT, Frech TM, Gordon JK, Hant FN, Shah AA, Shanmugam VK, Steen VD, Assassi S, Del Galdo F. Serum type I interferon score as a disease activity biomarker in patients with diffuse cutaneous systemic sclerosis: a retrospective cohort study. Lancet Rheumatol. 2025 Mar 31:S2665-9913(24)00403-X. doi: 10.1016/S2665-9913(24)00403-X. Epub ahead of print. PMID: 40179922.

Chawla HS, Chen Y, Wu M, Nikitin P, Gutierrez J, Mohan C, Singh M, Aglyamov SR, Assassi S, Larin KV. Assessment of skin fibrosis in a murine model of systemic sclerosis with multifunctional optical coherence tomography. J Biomed Opt. 2025 Mar;30(3):036007. doi: 10.1117/1.JBO.30.3.036007. Epub 2025 Mar 27. PMID: 40151216; PMCID: PMC11949416.

Xu M, Harel D, Carrier ME, Kwakkenbos L, Bartlett SJ, Gottesman K, Guillot G, Hummers L, Malcarne VL, Richard M, Thombs BD; SPIN Investigators. Differential Item Functioning on the Cochin Hand Function Scale Among People With Systemic Sclerosis by Language, Sex, and Disease Subtype: A Scleroderma Patient-Centered Intervention Network (SPIN) Cohort Study. Arthritis Care Res (Hoboken). 2025 Mar;77(3):393-401. doi: 10.1002/acr.25199. Epub 2023 Nov 20. PMID: 37489073.

Yuan X, Qin X, Takemoto K, Zhao J, Sanderson M, Xu X, Zhang Y, Helke KL, Jacobs Wolf B, Guthridge JM, James JA, Zhou X, Assassi S, Feghali-Bostwick C, Wang D, Sun L, Tsao BP. Human hypofunctional NCF1 variants promote pulmonary fibrosis in the bleomycin-induced mouse model and patients with systemic sclerosis via expansion of SPP1⁺ monocytes-derived macrophages. Ann Rheum Dis. 2025 Feb;84(2):294-306. doi: 10.1136/ard-2024-226034. Epub 2025 Jan 2. PMID: 39919902.

Allanore Y, Assassi S. Systemic Sclerosis: A Multisystem Disease; Time to Think Beyond Scleroderma. Arthritis Rheumatol. 2025 Jan 27. doi: 10.1002/art.43121. Epub ahead of print. PMID: 39866011.

Yu JM, VanBuren JM, Child A, Alvey JS, Mandl LA, Pinheiro LC, Assassi S, Bernstein EJ, Castelino FV, Chung L, Evnin L, Frech TM, Hant FN, Hummers LK, Khanna D, Lakin KS, Lebiedz-Odrobina D, Luo Y, Makol A, Molitor JA, Moore DF, Richardson C, Sandorfi N, Shah AA, Shah A, Shanmugam VK, Skaug B, Steen VD, Volkmann ER, Gordon JK. Psychometric Evaluation of the Scleroderma Skin Questionnaire: A Novel Patient-Reported Outcome for Skin Disease in Patients With Systemic Sclerosis. J Rheumatol. 2025 Feb 1:jrheum.2024-0736. doi: 10.3899/jrheum.2024-0736. Epub ahead of print. PMID: 39814444.

Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre-Díaz J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals. Nature. 2025 Jan;637(8047):E26. doi: 10.1038/s41586-024-08571-x. Erratum for: Nature. 2024 Jul;631(8021):583-592. doi: 10.1038/s41586-024-07556-0. PMID: 39779867; PMCID: PMC11754088.

2024

Ma Y, Mayes MD, Guo X, Assassi S, Zhou X. Lack of association of the PLD4 SNP rs2841277 with systemic sclerosis in a European American population. Sci Rep. 2024 Dec 28;14(1):31068. doi: 10.1038/s41598-024-82298-7. PMID: 39730870; PMCID: PMC11681260.

Volkmann ER, Wilhalme H, Tashkin DP, Kim GHJ, Goldin J, Haussmann A, Kuwana M, Roth MD, Assassi S. Treatment Response Biomarkers for Systemic Sclerosis-Associated Interstitial Lung Disease. Arthritis Care Res (Hoboken). 2024 Dec 22. doi: 10.1002/acr.25485. Epub ahead of print. PMID: 39711034.

Khanna D, Evnin LB, Assassi S, Benton WW, Gordon G, Maslova K, Steffgen J, Maher TM. Design of CONQUEST, a novel, randomized, placebo-controlled, Phase 2b platform clinical trial to investigate new treatments for patients with early active systemic sclerosis with interstitial lung disease. J Scleroderma Relat Disord. 2024 Nov 5:23971983241278079. doi: 10.1177/23971983241278079. Epub ahead of print. PMID: 39544897; PMCID: PMC11559531.

Lee KH, Assassi S, Mohan C, Pedroza C. Addressing statistical challenges in the analysis of proteomics data with extremely small sample size: a simulation study. BMC Genomics. 2024 Nov 14;25(1):1086. doi: 10.1186/s12864-024-11018-2. PMID: 39543503; PMCID: PMC11566501.

Bernstein EJ, Boin F, Elicker B, Luo Y, Ren Y, Zhang M, Varga J, Assassi S. FAM13A polymorphism is associated with a usual interstitial pneumonia pattern in patients with systemic sclerosis-associated interstitial lung disease. Rheumatology (Oxford). 2024 Oct 17:keae573. doi: 10.1093/rheumatology/keae573. Epub ahead of print. PMID: 39418199.

Mills TW, Wu M, Alonso J, Puente H, Charles J, Chen Z, Yoo SH, Mayes MD, Assassi S. Unraveling the role of MiR-181 in skin fibrosis pathogenesis by targeting NUDT21. FASEB J. 2024 Sep;38(17):e70022. doi: 10.1096/fj.202400829R. PMID: 39250282; PMCID: PMC11512580.

Sanchez S, McDowell-Sanchez AK, Al-Meerani SB, Cala-Garcia JD, Waich Cohen AR, Ochsner SA, McKenna NJ, Celada LJ, Wu M, Assassi S, Rosas IO, Tsoyi K. PIK-III exerts anti-fibrotic effects in activated fibroblasts by regulating p38 activation. PLoS One. 2024 Sep 6;19(9):e0306624. doi: 10.1371/journal.pone.0306624. PMID: 39240940; PMCID: PMC11379285.

Khanna D, Denton CP, Assassi S, Kuwana M, Allanore Y, Domsic RT, Kleoudis C, Xu J, Csomor E, Seo C, Albulescu M, Tummala R, Al-Mossawi H, Kalyani RN, Del Galdo F. A randomised, parallel-group, double-blind, placebo-controlled phase 3 study to Determine the effectiveness of the type I interferon receptor antibody, Anifrolumab, In SYstemic sclerosis: DAISY study design and rationale. Clin Exp Rheumatol. 2024 Aug;42(8):1635-1644. doi: 10.55563/clinexprheumatol/s8qcyu. Epub 2024 Aug 14. PMID: 39152751.

Johnson SR, Bernstein EJ, Bolster MB, Chung JH, Danoff SK, George MD, Khanna D, Guyatt G, Mirza RD, Aggarwal R, Allen A Jr, Assassi S, Buckley L, Chami HA, Corwin DS, Dellaripa PF, Domsic RT, Doyle TJ, Falardeau CM, Frech TM, Gibbons FK, Hinchcliff M, Johnson C, Kanne JP, Kim JS, Lim SY, Matson S, McMahan ZH, Merck SJ, Nesbitt K, Scholand MB, Shapiro L, Sharkey CD, Summer R, Varga J, Warrier A, Agarwal SK, Antin-Ozerkis D, Bemiss B, Chowdhary V, Dematte D’Amico JE, Hallowell R, Hinze AM, Injean PA, Jiwrajka N, Joerns EK, Lee JS, Makol A, McDermott GC, Natalini JG, Oldham JM, Saygin D, Lakin KS, Singh N, Solomon JJ, Sparks JA, Turgunbaev M, Vaseer S, Turner A, Uhl S, Ivlev I. 2023 American College of Rheumatology (ACR)/American College of Chest Physicians (CHEST) Guideline for the Treatment of Interstitial Lung Disease in People with Systemic Autoimmune Rheumatic Diseases. Arthritis Rheumatol. 2024 Aug;76(8):1182-1200. doi: 10.1002/art.42861. Epub 2024 Jul 8. PMID: 38978310.

Johnson SR, Bernstein EJ, Bolster MB, Chung JH, Danoff SK, George MD, Khanna D, Guyatt G, Mirza RD, Aggarwal R, Allen A Jr, Assassi S, Buckley L, Chami HA, Corwin DS, Dellaripa PF, Domsic RT, Doyle TJ, Falardeau CM, Frech TM, Gibbons FK, Hinchcliff M, Johnson C, Kanne JP, Kim JS, Lim SY, Matson S, McMahan ZH, Merck SJ, Nesbitt K, Scholand MB, Shapiro L, Sharkey CD, Summer R, Varga J, Warrier A, Agarwal SK, Antin-Ozerkis D, Bemiss B, Chowdhary V, Dematte D’Amico JE, Hallowell R, Hinze AM, Injean PA, Jiwrajka N, Joerns EK, Lee JS, Makol A, McDermott GC, Natalini JG, Oldham JM, Saygin D, Lakin KS, Singh N, Solomon JJ, Sparks JA, Turgunbaev M, Vaseer S, Turner A, Uhl S, Ivlev I. 2023 American College of Rheumatology (ACR)/American College of Chest Physicians (CHEST) Guideline for the Treatment of Interstitial Lung Disease in People with Systemic Autoimmune Rheumatic Diseases. Arthritis Care Res (Hoboken). 2024 Aug;76(8):1051-1069. doi: 10.1002/acr.25348. Epub 2024 Jul 8. PMID: 38973731.

2023

Ma Y, Mayes MD, Guo X, Assassi S, Zhou X. Lack of association of the PLD4 SNP rs2841277 with systemic sclerosis in a European American population. Sci Rep. 2024 Dec 28;14(1):31068. doi: 10.1038/s41598-024-82298-7. PMID: 39730870; PMCID: PMC11681260.

Bernstein EJ, Boin F, Elicker B, Luo Y, Ren Y, Zhang M, Varga J, Assassi S. FAM13A polymorphism is associated with a usual interstitial pneumonia pattern in patients with systemic sclerosis-associated interstitial lung disease. Rheumatology (Oxford). 2024 Oct 17:keae573. doi: 10.1093/rheumatology/keae573. Epub ahead of print. PMID: 39418199.

Mills TW, Wu M, Alonso J, Puente H, Charles J, Chen Z, Yoo SH, Mayes MD, Assassi S. Unraveling the role of MiR-181 in skin fibrosis pathogenesis by targeting NUDT21. FASEB J. 2024 Sep;38(17):e70022. doi: 10.1096/fj.202400829R. PMID: 39250282; PMCID: PMC11512580.

Sanchez S, McDowell-Sanchez AK, Al-Meerani SB, Cala-Garcia JD, Waich Cohen AR, Ochsner SA, McKenna NJ, Celada LJ, Wu M, Assassi S, Rosas IO, Tsoyi K. PIK-III exerts anti-fibrotic effects in activated fibroblasts by regulating p38 activation. PLoS One. 2024 Sep 6;19(9):e0306624. doi: 10.1371/journal.pone.0306624. PMID: 39240940; PMCID: PMC11379285.

Johnson SR, Bernstein EJ, Bolster MB, Chung JH, Danoff SK, George MD, Khanna D, Guyatt G, Mirza RD, Aggarwal R, Allen A Jr, Assassi S, Buckley L, Chami HA, Corwin DS, Dellaripa PF, Domsic RT, Doyle TJ, Falardeau CM, Frech TM, Gibbons FK, Hinchcliff M, Johnson C, Kanne JP, Kim JS, Lim SY, Matson S, McMahan ZH, Merck SJ, Nesbitt K, Scholand MB, Shapiro L, Sharkey CD, Summer R, Varga J, Warrier A, Agarwal SK, Antin-Ozerkis D, Bemiss B, Chowdhary V, Dematte D’Amico JE, Hallowell R, Hinze AM, Injean PA, Jiwrajka N, Joerns EK, Lee JS, Makol A, McDermott GC, Natalini JG, Oldham JM, Saygin D, Lakin KS, Singh N, Solomon JJ, Sparks JA, Turgunbaev M, Vaseer S, Turner A, Uhl S, Ivlev I. 2023 American College of Rheumatology (ACR)/American College of Chest Physicians (CHEST) Guideline for the Treatment of Interstitial Lung Disease in People with Systemic Autoimmune Rheumatic Diseases. Arthritis Care Res (Hoboken). 2024 Aug;76(8):1051-1069. doi: 10.1002/acr.25348. Epub 2024 Jul 8. PMID: 38973731.

Zhu H, Luo H, Skaug B, Tabib T, Li YN, Tao Y, Matei AE, Lyons MA, Schett G, Lafyatis R, Assassi S, Distler JHW. Fibroblast Subpopulations in Systemic Sclerosis: Functional Implications of Individual Subpopulations and Correlations with Clinical Features. J Invest Dermatol. 2024 Jun;144(6):1251-1261.e13. doi: 10.1016/j.jid.2023.09.288. Epub 2023 Dec 24. PMID: 38147960; PMCID: PMC11116078.

Bellocchi C, Wang X, Lyons MA, Marchini M, Lorini M, Carbonelli V, Montano N, Assassi S, Beretta L. Reactome pathway analysis from whole-blood transcriptome reveals unique characteristics of systemic sclerosis patients at the preclinical stage. Front Immunol. 2023 Nov 3;14:1266391. doi: 10.3389/fimmu.2023.1266391. PMID: 38022564; PMCID: PMC10654742.

Assassi S. Updates on translational and clinical research in systemic sclerosis. Curr Opin Rheumatol. 2023 Nov 1;35(6):299-300. doi: 10.1097/BOR.0000000000000973. PMID: 37755403.

Maher TM, Assassi S, Azuma A, Cottin V, Hoffmann-Vold AM, Kreuter M, Oldham JM, Richeldi L, Valenzuela C, Wijsenbeek MS, Coeck C, Schlecker C, Voss F, Wachtlin D, Martinez FJ. Design of a phase III, double-blind, randomised, placebo-controlled trial of BI 1015550 in patients with progressive pulmonary fibrosis (FIBRONEER-ILD). BMJ Open Respir Res. 2023 Sep;10(1):e001580. doi: 10.1136/bmjresp-2022-001580. PMID: 37709661; PMCID: PMC10503394.

Desai R, Chawla H, Larin K, Assassi S. Methods for objective assessment of skin involvement in systemic sclerosis. Curr Opin Rheumatol. 2023 Nov 1;35(6):301-308. doi: 10.1097/BOR.0000000000000968. Epub 2023 Aug 21. PMID: 37605869; PMCID: PMC11015902.

Volkmann ER, Wilhalme H, Assassi S, Kim GHJ, Goldin J, Kuwana M, Tashkin DP, Roth MD. Combining Clinical and Biological Data to Predict Progressive Pulmonary Fibrosis in Patients With Systemic Sclerosis Despite Immunomodulatory Therapy. ACR Open Rheumatol. 2023 Oct;5(10):547-555. doi: 10.1002/acr2.11598. Epub 2023 Aug 17. PMID: 37592449; PMCID: PMC10570669.

Assassi S. Autoantibody and Cancer Connection in Systemic Sclerosis: Type and Overlap Matter. Arthritis Rheumatol. 2024 Jan;76(1):11-13. doi: 10.1002/art.42669. Epub 2023 Nov 13. PMID: 37551618.

Assassi S, Tumuluri S, Levin RW. Interstitial lung disease in patients with systemic sclerosis: what can we learn from the SENSCIS trial? Clin Exp Rheumatol. 2023 Aug;41(8):1713-1719. doi: 10.55563/clinexprheumatol/trcv91. Epub 2023 Aug 3. PMID: 37534955.

Wojeck RK, Knisely MR, Bailey DE, Somers TJ, Kwakkenbos L, Carrier ME, Nielson WR, Bartlett SJ, Malcarne VL, Hudson M, Levis B, Benedetti A, Mouthon L, Thombs BD, Silva SG; SPIN Investigators. Patterns of patient-reported symptoms and association with sociodemographic and systemic sclerosis disease characteristics: a scleroderma Patient-centered Intervention Network (SPIN) Cohort cross-sectional study. EClinicalMedicine. 2023 Jul 20;62:102104. doi: 10.1016/j.eclinm.2023.102104. PMID: 37533421; PMCID: PMC10393558.

Luebker S, Frech TM, Assassi S, Gordon JK, Bernstein EJ, Steen VD, Shah AA, Hummers LK, Richardson C, Khanna D, Castelino FV, Chung L, Hant FN, Shanmugam VK, VanBuren JM, Alvey J, Harding M, Sandorfi N. The Collaborative National Quality and Efficacy Registry for Scleroderma: association of medication use on gastrointestinal tract symptoms in early disease and the importance of tobacco cessation. Clin Exp Rheumatol. 2023 Aug;41(8):1632-1638. doi: 10.55563/clinexprheumatol/04rauu. Epub 2023 Jul 25. PMID: 37497718.

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