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2004 1
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Page 1
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Among authors: arboleda va. Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245513 Free PMC article.
An Overview of DNA Analytical Methods.
Arboleda VA, Xian RR. Arboleda VA, et al. Methods Mol Biol. 2019;1897:385-402. doi: 10.1007/978-1-4939-8935-5_31. Methods Mol Biol. 2019. PMID: 30539459 Review.
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Singh M, Spendlove S, Wei A, Bondhus L, Nava A, de L Vitorino FN, Amano S, Lee J, Echeverria G, Gomez D, Garcia BA, Arboleda VA. Singh M, et al. Among authors: arboleda va. bioRxiv [Preprint]. 2023 Aug 5:2023.08.03.550595. doi: 10.1101/2023.08.03.550595. bioRxiv. 2023. Update in: Hum Genet. 2023 Dec;142(12):1705-1720. doi: 10.1007/s00439-023-02608-3. PMID: 37577627 Free PMC article. Updated. Preprint.
60 results