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Tissue-specific inducible IL-33 expression elicits features of eosinophilic esophagitis.
Pyon GC, Masuda MY, Putikova A, Luo H, Gibson JB, Dao AD, Ortiz DR, Heiligenstein PL, Bonellos JJ, LeSuer WE, Pai RK, Garg S, Rank MA, Nakagawa H, Kita H, Wright BL, Doyle AD. Pyon GC, et al. Among authors: gibson jb. J Allergy Clin Immunol. 2024 Sep 10:S0091-6749(24)00910-2. doi: 10.1016/j.jaci.2024.08.026. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39265877
Vitamin-Dependent Genetic Disorders of Childhood.
Ramirez EL, Gibson JB, Jülich K. Ramirez EL, et al. Among authors: gibson jb. Pediatr Rev. 2023 Nov 1;44(11):618-631. doi: 10.1542/pir.2022-005637. Pediatr Rev. 2023. PMID: 37907415 No abstract available.
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
Duong T, Kishnani PS, An Haack K, Foster MC, Gibson JB, Wilson C, Hahn SH, Hillman R, Kronn D, Leslie ND, Peña LDM, Sparks SE, Stockton DW, Tanpaiboon P, Day JW; Pompe ADVANCE Study Consortium. Duong T, et al. Among authors: gibson jb. J Neuromuscul Dis. 2022;9(6):713-730. doi: 10.3233/JND-210784. J Neuromuscul Dis. 2022. PMID: 36214004 Free PMC article.
Global impact of COVID-19 on newborn screening programmes.
Koracin V, Loeber JG, Mlinaric M, Battelino T, Bonham JR, Groselj U; COVID-NBS ISNS global network. Koracin V, et al. BMJ Glob Health. 2022 Mar;7(3):e007780. doi: 10.1136/bmjgh-2021-007780. BMJ Glob Health. 2022. PMID: 35236661 Free PMC article.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Magyar CL, et al. Among authors: gibson jb. Am J Med Genet A. 2022 Jun;188(6):1868-1874. doi: 10.1002/ajmg.a.62704. Epub 2022 Feb 23. Am J Med Genet A. 2022. PMID: 35194938 Free PMC article. Review.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, An Haack K, Stockton DW, Peña LDM, Hahn SH, Johnson J, Tanpaiboon PX, Leslie ND, Kronn D, Hillman RE, Wang RY; Pompe ADVANCE Study Consortium. Byrne BJ, et al. Among authors: gibson jb. Cardiol Young. 2022 Mar;32(3):364-373. doi: 10.1017/S1047951121002079. Epub 2021 Aug 23. Cardiol Young. 2022. PMID: 34420548 Clinical Trial.
Reanalysis of Clinical Exome Sequencing Data.
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Liu P, et al. Among authors: gibson jb. N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. N Engl J Med. 2019. PMID: 31216405 Free PMC article. No abstract available.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS, Gibson JB, Gambello MJ, Hillman R, Stockton DW, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Day JW, Wang RY, Goldstein JL, An Haack K, Sparks SE, Zhao Y, Hahn SH; Pompe ADVANCE Study Consortium. Kishnani PS, et al. Among authors: gibson jb. Genet Med. 2019 Nov;21(11):2543-2551. doi: 10.1038/s41436-019-0527-9. Epub 2019 May 14. Genet Med. 2019. PMID: 31086307 Free PMC article.
192 results