Our Publications
Key Publications
More Arboleda Lab and Affiliate Publications
Russell BE, Kianmahd RR, Munster C, Yu A, Ahad L, Tan WH. Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk. Am J Med Genet A. 2023 Feb 7. doi: 10.1002/ajmg.a.63125. Epub ahead of print. PMID: 36751885.
Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera, Bianca Russell, Rosanna Weksberg, Valerie A. Arboleda. Multi-omics on truncating ASXL1 mutations in Bohring Opitz syndrome identify dysregulation of canonical and non-canonical Wnt signaling
bioRxiv 2022.12.15.520167; doi: https://doi.org/10.1101/2022.12.15.520167Isabella Lin, Zain Awamleh, Angela Wei, Bianca Russell, Rosanna Weksberg, Valerie A. Arboleda. ASXL1 mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signatures
bioRxiv 2022.12.15.519823; doi: https://doi.org/10.1101/2022.12.15.519823Awamleh Z, Charter-Diehl E, Choufani S, Wei E, Kianmahd RR, Yu A, Tan W, Scherer SW, Arboleda VA, Russell BE, Weksberg R. DNA methylation signature of ASXL1 variants causing Bohring-Opitz syndrome (BOS). European Journal of Human Genetics. 2022 Apr 1. doi: 10.1038/s41431-022-01083-0. PMID: 35361921.
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. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14. PMID: 34519438; PMCID: PMC8580094.
Awamleh Z, Goodman S, Kallurkar P, Wu W, Lu K, Choufani S, Turinsky AL, Weksberg R. Generation of DNA Methylation Signatures and Classification of Variants in Rare Neurodevelopmental Disorders Using EpigenCentral. Curr Protoc. 2022 Nov;2(11):e597. doi: 10.1002/cpz1.597. PMID: 36367395.
Russell B, Tan WH, Graham JM Jr. Bohring-Opitz Syndrome. 2018 Feb 15. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/sites/books/NBK481833/
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 Z, 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, The DDD Study, Arboleda VA*, Newbury-Ecob R*. KAT6A Syndrome: Genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genetics in Medicine. 2018 Sep 24. doi: 10.1038/s41436-018-0259-2. PMID: 30245513.*These authors contributed equally, co-corresponding authors.
Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning M, Kwan A, Hudgins L, Strom SP, Deignan JL, UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF. De novo nonsense variants in KAT6A, a Lysine Acetyl-Transferase gene, causes a syndrome including Microcephaly and Global Developmental Delay. American Journal of Human Genetics. 2015 Feb 26. PMCID: PMC4375619.