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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 1
2011 1
2012 1
2014 4
2015 5
2016 3
2017 2
2018 4
2019 2
2020 1
2021 6
2022 9
2023 7
2024 2

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45 results

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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.
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. PMID: 32909008 Free PMC article. Updated. Preprint.
MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1.
Contreras JR, Palanichamy JK, Tran TM, Fernando TR, Rodriguez-Malave NI, Goswami N, Arboleda VA, Casero D, Rao DS. Contreras JR, et al. Among authors: arboleda va. Oncotarget. 2015 May 10;6(13):11023-37. doi: 10.18632/oncotarget.3433. Oncotarget. 2015. PMID: 25906746 Free PMC article.
Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.
Datkhaeva I, Arboleda VA, Senaratne TN, Nikpour G, Meyerson C, Geng Y, Afshar Y, Scibetta E, Goldstein J, Quintero-Rivera F, Crandall BF, Grody WW, Deignan J, Janzen C. Datkhaeva I, et al. Among authors: arboleda va. Am J Med Genet A. 2018 Dec;176(12):2829-2834. doi: 10.1002/ajmg.a.40533. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244526 Review.
Mutant cohesin in premature ovarian failure.
Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E. Caburet S, et al. Among authors: arboleda va. N Engl J Med. 2014 Mar 6;370(10):943-949. doi: 10.1056/NEJMoa1309635. N Engl J Med. 2014. PMID: 24597867 Free PMC article.
45 results