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Year Number of Results
2016 1
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2023 7
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Page 1
A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.
Vaseghi-Shanjani M, Sharma M, Yousefi P, Samra S, Laverty KU, Jolma A, Razavi R, Yang AHW, Albu M, Golding L, Lee AF, Tan R, Richmond PA, Bosticardo M, Rayment JH, Yang CL, Hildebrand KJ, Brager R, Demos MK, Lau YL, Notarangelo LD, Hughes TR, Biggs CM, Turvey SE. Vaseghi-Shanjani M, et al. J Exp Med. 2025 Aug 4;222(8):e20241174. doi: 10.1084/jem.20241174. Epub 2025 May 20. J Exp Med. 2025. PMID: 40392549
A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.
Lu HY, Vaseghi-Shanjani M, Lam AJ, Sharma M, Mohajeri A, Silva LBR, Gillies J, Yang GX, Lin S, Fu MP, Salman A, Rahmanian R, Armstrong L, Halparin J, Yang CL, Chilvers M, Henkelman E, Rehmus W, Morrison D, Setiadi A, Mostafavi S, Kobor MS, Kozak FK, Biggs CM, van Karnebeek C, Hildebrand KJ; Anna Lehman on behalf of the Care4Rare Canada Consortium; Levings MK, Turvey SE. Lu HY, et al. Among authors: vaseghi shanjani m. J Clin Immunol. 2025 Apr 28;45(1):89. doi: 10.1007/s10875-025-01882-2. J Clin Immunol. 2025. PMID: 40295428 Free PMC article.
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE; DOOFNL Consortium; Pennings RJE, Kremer H. Velde HM, et al. Among authors: vaseghi shanjani m. Hum Genet. 2024 Nov;143(11):1379-1399. doi: 10.1007/s00439-024-02706-w. Epub 2024 Oct 16. Hum Genet. 2024. PMID: 39406892 Free PMC article.
Transcription factor defects in inborn errors of immunity with atopy.
Vaseghi-Shanjani M, Yousefi P, Sharma M, Samra S, Sifuentes E, Turvey SE, Biggs CM. Vaseghi-Shanjani M, et al. Front Allergy. 2023 Sep 1;4:1237852. doi: 10.3389/falgy.2023.1237852. eCollection 2023. Front Allergy. 2023. PMID: 37727514 Free PMC article. Review.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Turvey SE, Lehman A. Mohajeri A, et al. Among authors: vaseghi shanjani m. J Med Genet. 2023 Nov;60(11):1092-1104. doi: 10.1136/jmg-2022-109127. Epub 2023 Jun 14. J Med Genet. 2023. PMID: 37316189 Free PMC article.
Author Correction: Parenteral BCG vaccine induces lung-resident memory macrophages and trained immunity via the gut-lung axis.
Jeyanathan M, Vaseghi-Shanjani M, Afkhami S, Grondin JA, Kang A, D'Agostino MR, Yao Y, Jain S, Zganiacz A, Kroezen Z, Shanmuganathan M, Singh R, Dvorkin-Gheva A, Britz-McKibbin P, Khan WI, Xing Z. Jeyanathan M, et al. Among authors: vaseghi shanjani m. Nat Immunol. 2023 Jun;24(6):1049. doi: 10.1038/s41590-023-01525-x. Nat Immunol. 2023. PMID: 37161093 Free PMC article. No abstract available.
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made CI, Yang J, Chan KW, Rosa Duque JSD, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A, Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Nguyen ATV, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE. Sharma M, et al. Among authors: vaseghi shanjani m. J Exp Med. 2023 May 1;220(5):e20221755. doi: 10.1084/jem.20221755. Epub 2023 Mar 8. J Exp Med. 2023. PMID: 36884218 Free PMC article.
23 results