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ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. Among authors: davis k. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 Free PMC article.
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.
Van Dijck A, van der Werf IM, Reyniers E, Scheers S, Azage M, Siefkas K, Van der Aa N, Lacroix A, Rosenfeld J, Argiropoulos B, Davis K, Innes AM, Mefford HC, Mortier G, Meuwissen M, Kooy RF. Van Dijck A, et al. Among authors: davis k. Eur J Med Genet. 2015 Oct;58(10):503-8. doi: 10.1016/j.ejmg.2015.08.004. Epub 2015 Aug 29. Eur J Med Genet. 2015. PMID: 26327614
Seizures in Sotos syndrome: Phenotyping in 49 patients.
Fortin O, Vincelette C, Khan AQ, Berrahmoune S, Dassi C, Karimi M, Scheffer IE, Lu J, Davis K, Myers KA. Fortin O, et al. Among authors: davis k. Epilepsia Open. 2021 Jun;6(2):425-430. doi: 10.1002/epi4.12484. Epub 2021 Apr 9. Epilepsia Open. 2021. PMID: 34033256 Free PMC article.
ALG9-CDG: New clinical case and review of the literature.
Davis K, Webster D, Smith C, Jackson S, Sinasac D, Seargeant L, Wei XC, Ferreira P, Midgley J, Foster Y, Li X, He M, Al-Hertani W. Davis K, et al. Mol Genet Metab Rep. 2017 Sep 6;13:55-63. doi: 10.1016/j.ymgmr.2017.08.004. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 28932688 Free PMC article.
Gut microbial β-glucuronidases influence endobiotic homeostasis and are modulated by diverse therapeutics.
Simpson JB, Walker ME, Sekela JJ, Ivey SM, Jariwala PB, Storch CM, Kowalewski ME, Graboski AL, Lietzan AD, Walton WG, Davis KA, Cloer EW, Borlandelli V, Hsiao YC, Roberts LR, Perlman DH, Liang X, Overkleeft HS, Bhatt AP, Lu K, Redinbo MR. Simpson JB, et al. Among authors: davis ka. Cell Host Microbe. 2024 May 13:S1931-3128(24)00138-0. doi: 10.1016/j.chom.2024.04.018. Online ahead of print. Cell Host Microbe. 2024. PMID: 38754417 Free article.
4,951 results