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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.
Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.
Johnson R, Stephens AV, Mester R, Knyazev S, Kohn LA, Freund MK, Bondhus L, Hill BL, Schwarz T, Zaitlen N, Arboleda VA, A Bastarache L, Pasaniuc B, Butte MJ. Johnson R, et al. Among authors: arboleda va. Sci Transl Med. 2024 May;16(745):eade4510. doi: 10.1126/scitranslmed.ade4510. Epub 2024 May 1. Sci Transl Med. 2024. PMID: 38691621 Free PMC article.
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.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Yabumoto M, et al. Among authors: arboleda va. Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14. Mol Genet Genomic Med. 2021. PMID: 34519438 Free PMC article.
Swab-Seq: A high-throughput platform for massively scaled up SARS-CoV-2 testing.
Bloom JS, Sathe L, Munugala C, Jones EM, Gasperini M, Lubock NB, Yarza F, Thompson EM, Kovary KM, Park J, Marquette D, Kay S, Lucas M, Love T, Booeshaghi AS, Brandenberg OF, Guo L, Boocock J, Hochman M, Simpkins SW, Lin I, LaPierre N, Hong D, Zhang Y, Oland G, Choe BJ, Chandrasekaran S, Hilt EE, Butte MJ, Damoiseaux R, Kravit C, Cooper AR, Yin Y, Pachter L, Garner OB, Flint J, Eskin E, Luo C, Kosuri S, Kruglyak L, Arboleda VA. Bloom JS, et al. Among authors: arboleda va. medRxiv [Preprint]. 2021 Mar 9:2020.08.04.20167874. doi: 10.1101/2020.08.04.20167874. medRxiv. 2021. Update in: Nat Biomed Eng. 2021 Jul;5(7):657-665. doi: 10.1038/s41551-021-00754-5. PMID: 32909008 Free PMC article. Updated. Preprint.
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