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Page 1
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.
Merico D, Pasternak Y, Zarrei M, Higginbotham EJ, Thiruvahindrapuram B, Scott O, Willett-Pachul J, Grunebaum E, Upton J, Atkinson A, Kim VHD, Aliyev E, Fakhro K, Scherer SW, Roifman CM. Merico D, et al. Among authors: upton j. NPJ Genom Med. 2021 Nov 18;6(1):96. doi: 10.1038/s41525-021-00263-z. NPJ Genom Med. 2021. PMID: 34795304 Free PMC article.
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, Lo RW, Li L, Li R, Li Q, Thoeni C, Pan J, Leung G, Lara-Corrales I, Murchie R, Cutz E, Laxer RM, Upton J, Roifman CM, Yeung RS, Brumell JH, Muise AM. Kahr WH, et al. Among authors: upton j. Nat Commun. 2017 Apr 3;8:14816. doi: 10.1038/ncomms14816. Nat Commun. 2017. PMID: 28368018 Free PMC article.
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Crowley E, Warner N, Pan J, Khalouei S, Elkadri A, Fiedler K, Foong J, Turinsky AL, Bronte-Tinkew D, Zhang S, Hu J, Tian D, Li D, Horowitz J, Siddiqui I, Upton J, Roifman CM, Church PC, Wall DA, Ramani AK, Kotlarz D, Klein C, Uhlig H, Snapper SB, Gonzaga-Jauregui C, Paterson AD, McGovern DPB, Brudno M, Walters TD, Griffiths AM, Muise AM. Crowley E, et al. Among authors: upton j. Gastroenterology. 2020 Jun;158(8):2208-2220. doi: 10.1053/j.gastro.2020.02.023. Epub 2020 Feb 19. Gastroenterology. 2020. PMID: 32084423 Free PMC article.
Basophil activation test shows high accuracy in the diagnosis of peanut and tree nut allergy: The Markers of Nut Allergy Study.
Duan L, Celik A, Hoang JA, Schmidthaler K, So D, Yin X, Ditlof CM, Ponce M, Upton JEM, Lee JS, Hung L, Breiteneder H, Palladino C, Atkinson AR, Kim VHD, Berenjy A, Asper M, Hummel D, Wong S, Alexanian-Farr M, Magder A, Chinthrajah SR, Mukai K, Tsai M, Nadeau K, Galli SJ, Ramani AK, Szepfalusi Z, Eiwegger T. Duan L, et al. Among authors: upton jem. Allergy. 2021 Jun;76(6):1800-1812. doi: 10.1111/all.14695. Epub 2020 Dec 29. Allergy. 2021. PMID: 33300157 Free PMC article.
498 results