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Year | Number of Results |
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2023 | 1 |
2024 | 2 |
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Page 1
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Nat Immunol. 2024 May;25(5):764-777. doi: 10.1038/s41590-024-01817-w. Epub 2024 Apr 12.
Nat Immunol. 2024.
PMID: 38609546
Predicting the impact of rare variants on RNA splicing in CAGI6.
Lord J, Oquendo CJ, Wai HA, Douglas AGL, Bunyan DJ, Wang Y, Hu Z, Zeng Z, Danis D, Katsonis P, Williams A, Lichtarge O, Chang Y, Bagnall RD, Mount SM, Matthiasardottir B, Lin C, Hansen TVO, Leman R, Martins A, Houdayer C, Krieger S, Bakolitsa C, Peng Y, Kamandula A, Radivojac P, Baralle D.
Lord J, et al. Among authors: matthiasardottir b.
Hum Genet. 2024 Jan 3. doi: 10.1007/s00439-023-02624-3. Online ahead of print.
Hum Genet. 2024.
PMID: 38170232
Free article.
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Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
Baghdassarian H, Blackstone SA, Clay OS, Philips R, Matthiasardottir B, Nehrebecky M, Hua VK, McVicar R, Liu Y, Tucker SM, Randazzo D, Deuitch N, Rosenzweig S, Mark A, Sasik R, Fisch KM, Pimpale Chavan P, Eren E, Watts NR, Ma CA, Gadina M, Schwartz DM, Sanyal A, Werner G, Murdock DR, Horita N, Chowdhury S, Dimmock D, Jepsen K, Remmers EF, Goldbach-Mansky R, Gahl WA, O'Shea JJ, Milner JD, Lewis NE, Chang J, Kastner DL, Torok K, Oda H, Putnam CD, Broderick L.
Baghdassarian H, et al. Among authors: matthiasardottir b.
N Engl J Med. 2023 Jun 15;388(24):2241-2252. doi: 10.1056/NEJMoa2202318. Epub 2023 May 31.
N Engl J Med. 2023.
PMID: 37256972
Free PMC article.
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