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A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.
Clin Immunol. 2024 Jul;264:110244. doi: 10.1016/j.clim.2024.110244. Epub 2024 May 9.
Clin Immunol. 2024.
PMID: 38734037
Free article.
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.
Miller KE, Rivaldi AC, Shinagawa N, Sran S, Navarro JB, Westfall JJ, Miller AR, Roberts RD, Akkari Y, Supinger R, Hester ME, Marhabaie M, Gade M, Lu J, Rodziyevska O, Bhattacharjee MB, Von Allmen GK, Yang E, Lidov HGW, Harini C, Shah MN, Leonard J, Pindrik J, Shaikhouni A, Goldman JE, Pierson CR, Thomas DL, Boué DR, Ostendorf AP, Mardis ER, Poduri A, Koboldt DC, Heinzen EL, Bedrosian TA.
Miller KE, et al. Among authors: supinger r.
Nat Genet. 2023 Nov;55(11):1920-1928. doi: 10.1038/s41588-023-01547-z. Epub 2023 Oct 23.
Nat Genet. 2023.
PMID: 37872450
Free PMC article.
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Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.
Ramadesikan S, Colwell CM, Supinger R, Hunter J, Thomas J, Varga E, Mardis ER, Wood RJ, Koboldt DC.
Ramadesikan S, et al. Among authors: supinger r.
Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006294. doi: 10.1101/mcs.a006294. Print 2023 Dec.
Cold Spring Harb Mol Case Stud. 2024.
PMID: 37816608
Free PMC article.
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