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Page 1
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.
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.
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.
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.
Intranasal multivalent adenoviral-vectored vaccine protects against replicating and dormant M.tb in conventional and humanized mice.
Afkhami S, D'Agostino MR, Vaseghi-Shanjani M, Lepard M, Yang JX, Lai R, Choi MWY, Chacon A, Zganiacz A, Franken KLMC, Ertl HC, Ottenhoff THM, Jeyanathan M, Gillgrass A, Xing Z. Afkhami S, et al. Among authors: vaseghi shanjani m. NPJ Vaccines. 2023 Feb 23;8(1):25. doi: 10.1038/s41541-023-00623-z. NPJ Vaccines. 2023. PMID: 36823425 Free PMC article.
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. 2022 Dec;23(12):1687-1702. doi: 10.1038/s41590-022-01354-4. Epub 2022 Dec 1. Nat Immunol. 2022. PMID: 36456739 Free PMC article.
Atopy as Immune Dysregulation: Offender Genes and Targets.
Vaseghi-Shanjani M, Snow AL, Margolis DJ, Latrous M, Milner JD, Turvey SE, Biggs CM. Vaseghi-Shanjani M, et al. J Allergy Clin Immunol Pract. 2022 Jul;10(7):1737-1756. doi: 10.1016/j.jaip.2022.04.001. Epub 2022 Jun 6. J Allergy Clin Immunol Pract. 2022. PMID: 35680527
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