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Roshini Abraham

Professor

1995 …2026

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  • 2025 Inborn errors of immunity practice parameter

    Orange, J. S., Chinen, J., Horner, C. C., Kobrynski, L. J., Ballow, M., Butte, M. J., Chandrakasan, S., Chinn, I. K., Satter, L. F., Freeman, A. F., Heimall, J. R., Knight, V., Lawrence, M. G., Lehman, H. K., Maglione, P. J., Perez, E. E., Risma, K. A., Walter, J. E., Abraham, R. S. & Barmettler, S. & 42 others, Broderick, L., Chang, C. C., Chan, A. Y., Chen, K., Connelly, J., Danziger-Isakov, L. A., De la Morena, M. T., DiGiacomo, D., Dimitriades, V. R., Dorsey, M. J., Dulek, D. E., Dutmer, C. M., Dvorak, C. C., Farmer, J. R., Frazer-Abel, A., Joshi, A. Y., Keller, M. D., Khan, Y. W., Kitcharoensakkul, M., Leiding, J. W., Myers, K. C., Nandakumar, V., Platt, C. D., Pai, S. Y., Patel, N. C., Pozos, T. C., Puck, J. M., Rider, N. L., Sacco, K. A., Williams, K. W., Lieberman, J. A., Rank, M. A., Shaker, M. S., Abrams, E. M., Bernstein, J. A., Chu, D. K., Ellis, A. K., Golden, D. B. K., Greenhawt, M., Ledford, D. K., Mosnaim, G. & Wang, J., Apr 2026, In: Annals of Allergy, Asthma and Immunology. 136, 4, p. 426-493.e1

    Research output: Contribution to journal › Article › peer-review

    Open Access
    6   Link opens in a new tab Scopus citations

  • A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis

    Wolfgramm, S., Alehashemi, S., Wendlandt, M., Thiel, F. G., de Jesus, A. A., Papendorf, J. J., Wolfgramm, H., Alvarez, F. L., Borngräber, E., Uss, K., Bhuyan, F., Metpally, A., Steil, L., Hentschker, C., Venz, S., Abdulla, R. A., Poirier, L., Friend, C., Casta, F. C. & Horkayne-Szakaly, I. & 31 others, Akoghlanian, S., Mustillo, P. J., Abraham, R. S., Bastard, P., Moura, T. C. L., Dorna, M. B., Kozu, K. T., Kers, J., Teng, Y. K. O., Bredius, R. G. M., Palmblad, K., Horne, A. C., Brodin, P., Blanco-Lobo, P., Bernabeu-Wittel, J., Fernandez-Silveira, L., Neth, O., Pagnier, A., Boursier, G., Tusseau, M., Huizinga, T. W. J., Fournier, B., Neven, B., Völker, U., Santen, G. W. E., Brenchley, J. M., Calvo, K. R., Kleiner, D., Ebstein, F., Krüger, E. & Goldbach-Mansky, R., Apr 2026, In: Annals of the Rheumatic Diseases. 85, 4, p. 715-729 15 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    5   Link opens in a new tab Scopus citations

  • ALT/CK Ratio as an Early Marker of Liver Injury After Gene Therapy in Duchenne Muscular Dystrophy

    Drakou, E., Needum, C., Konst, K., Chagat, S., Abraham, R. S., Weymann, A. & Flanigan, K. M., Mar 2026, In: Pediatrics. 157, 3, e2025074192.

    Research output: Contribution to journal › Article › peer-review

  • Assessment of TREC-Based NBS SCID Reporting Practices for Harmonization of Results and Interpretation: A Global Survey

    Aluri, J., Gaviglio, A., Kistler, I., Webster, D., Pham-Huy, A., Lawrence, M. G., Yu, J. E., King, J., Alsuweiti, M., Auzenbaha, M., Avcin, T., Aytekin, C., Baekvad-Hansen, M., Chien, Y. H., Ciznar, P., Fasth, A., Förster-Waldl, E., Gilmour, K., Hagin, D. & Imai, K. & 31 others, Kim, Y. J., Kurjane, N., La Marca, G., Lempainen, J., Leahy, T. R., Liew, W. K., Mahlaoui, N., Massaad, M. J., Martin-Nalda, A., Masmas, T. N., Pachlopnik-Schmid, J., Polyakova, E., Peake, J., Rivera, S., Espinosa-Rosales, F. J., Rodriguez-Quiroz, F., Sediva, A., Sobh, A., Soler-Palacin, P., Stray-Pedersen, A., Taskinen, M., Vorslova, S., Wang, W., Heimall, J. R., Wright, N. A. M., Peng, X. P., Condino-Neto, A., Kobrynski, L., Puck, J. M., Hauck, F. & Abraham, R. S., May 2026, In: Journal of Allergy and Clinical Immunology: In Practice. 14, 5, p. 1153-1164 12 p.

    Research output: Contribution to journal › Article › peer-review

    1   Link opens in a new tab Scopus citations

  • Clinically validated assay for rapid determination of type I and type II interferon activity in systemic inflammatory diseases

    Lam, M. T., Basu, A., Brodeur, K. E., LeSon, C. E., Hsu, E. E., Alhezam, M. A., Weng, R., Okada, S., Rimland, C. A., Yue, J., Peng, X. P., Wysocki, C., Ramanathan, A., Huang, Z., Andzelm, M. M., Jiang, C. L., Wobma, H., Chang, J. C., Chou, J. & Son, M. B. F. & 4 others, Platt, C. D., Henderson, L. A., Abraham, R. S. & Lee, P. Y., Jun 2026, In: Journal of Allergy and Clinical Immunology. 157, 6, p. 1411-1422.e12

    Research output: Contribution to journal › Article › peer-review

    4   Link opens in a new tab Scopus citations
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