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Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
J Allergy Clin Immunol. 2022 Oct;150(4):947-954. doi: 10.1016/j.jaci.2022.06.009. Epub 2022 Jun 24.
J Allergy Clin Immunol. 2022.
PMID: 35753512
Free PMC article.
Review.
FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.
Ghosh R, Bosticardo M, Singh S, Similuk M, Delmonte OM, Pala F, Peng C, Jodarski C, Keller MD, Chinn IK, Groves AK, Notarangelo LD, Walkiewicz MA, Chinen J, Bundy V.
Ghosh R, et al. Among authors: jodarski c.
J Allergy Clin Immunol. 2022 Dec;150(6):1556-1562. doi: 10.1016/j.jaci.2022.08.005. Epub 2022 Aug 18.
J Allergy Clin Immunol. 2022.
PMID: 35987349
Free PMC article.
Item in Clipboard
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.
Carrillo N, Malicdan MC, Leoyklang P, Shrader JA, Joe G, Slota C, Perreault J, Heiss JD, Class B, Liu CY, Bradley K, Jodarski C, Ciccone C, Driscoll C, Parks R, Van Wart S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA.
Carrillo N, et al. Among authors: jodarski c.
Genet Med. 2021 Nov;23(11):2067-2075. doi: 10.1038/s41436-021-01259-x. Epub 2021 Jul 13.
Genet Med. 2021.
PMID: 34257421
Free PMC article.
Clinical Trial.
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Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
Beers BJ, Similuk MN, Ghosh R, Seifert BA, Jamal L, Kamen M, Setzer MR, Jodarski C, Duncan R, Hunt D, Mixer M, Cao W, Bi W, Veltri D, Karlins E, Zhang L, Li Z, Oler AJ, Jevtich K, Yu Y, Hullfish H, Bielekova B, Frischmeyer-Guerrerio P, Dang Do A, Huryn LA, Olivier KN, Su HC, Lyons JJ, Zerbe CS, Rao VK, Keller MD, Freeman AF, Holland SM, Franco LM, Walkiewicz MA, Yan J.
Beers BJ, et al. Among authors: jodarski c.
Front Immunol. 2023 May 5;14:1172004. doi: 10.3389/fimmu.2023.1172004. eCollection 2023.
Front Immunol. 2023.
PMID: 37215141
Free PMC article.
Item in Clipboard
Correction to: Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling.
Jodarski C, Duncan R, Torres E, Gore R, Raznahan A, Similuk M.
Jodarski C, et al.
J Community Genet. 2023 Feb;14(1):27. doi: 10.1007/s12687-023-00636-0.
J Community Genet. 2023.
PMID: 36763325
Free PMC article.
No abstract available.
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Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling.
Jodarski C, Duncan R, Torres E, Gore R, Raznahan A, Similuk M.
Jodarski C, et al.
J Community Genet. 2023 Feb;14(1):17-25. doi: 10.1007/s12687-022-00630-y. Epub 2023 Jan 7.
J Community Genet. 2023.
PMID: 36609636
Free PMC article.
Review.
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