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Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits.
PLoS Genet. 2022 Dec 27;18(12):e1010557. doi: 10.1371/journal.pgen.1010557. eCollection 2022 Dec.
PLoS Genet. 2022.
PMID: 36574455
Free PMC article.
Purifying selection on noncoding deletions of human regulatory loci detected using their cellular pleiotropy.
Radke DW, Sul JH, Balick DJ, Akle S; Alzheimer's Disease Neuroimaging Initiative; Green RC, Sunyaev SR.
Radke DW, et al. Among authors: akle s.
Genome Res. 2021 Jun;31(6):935-946. doi: 10.1101/gr.275263.121. Epub 2021 May 7.
Genome Res. 2021.
PMID: 33963077
Free PMC article.
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Mitigating false-positive associations in rare disease gene discovery.
Akle S, Chun S, Jordan DM, Cassa CA.
Akle S, et al.
Hum Mutat. 2015 Oct;36(10):998-1003. doi: 10.1002/humu.22847.
Hum Mutat. 2015.
PMID: 26378430
Free PMC article.
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Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.
Kousi M, Söylemez O, Ozanturk A, Mourtzi N, Akle S, Jungreis I, Muller J, Cassa CA, Brand H, Mokry JA, Wolf MY, Sadeghpour A, McFadden K, Lewis RA, Talkowski ME, Dollfus H, Kellis M, Davis EE, Sunyaev SR, Katsanis N.
Kousi M, et al. Among authors: akle s.
Nat Genet. 2020 Nov;52(11):1145-1150. doi: 10.1038/s41588-020-0707-1. Epub 2020 Oct 12.
Nat Genet. 2020.
PMID: 33046855
Free PMC article.
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When "N of 2" is not enough: integrating statistical and functional data in gene discovery.
Cassa CA, Akle S, Jordan DM, Rosenfeld JA.
Cassa CA, et al. Among authors: akle s.
Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001099. doi: 10.1101/mcs.a001099.
Cold Spring Harb Mol Case Stud. 2017.
PMID: 28487880
Free PMC article.
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Fetal alcohol spectrum disorder predisposes to metabolic abnormalities in adulthood.
Weeks O, Bossé GD, Oderberg IM, Akle S, Houvras Y, Wrighton PJ, LaBella K, Iversen I, Tavakoli S, Adatto I, Schwartz A, Kloosterman D, Tsomides A, Charness ME, Peterson RT, Steinhauser ML, Fazeli PK, Goessling W.
Weeks O, et al. Among authors: akle s.
J Clin Invest. 2020 May 1;130(5):2252-2269. doi: 10.1172/JCI132139.
J Clin Invest. 2020.
PMID: 32202514
Free PMC article.
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TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways.
Chen-Plotkin AS, Unger TL, Gallagher MD, Bill E, Kwong LK, Volpicelli-Daley L, Busch JI, Akle S, Grossman M, Van Deerlin V, Trojanowski JQ, Lee VM.
Chen-Plotkin AS, et al. Among authors: akle s.
J Neurosci. 2012 Aug 15;32(33):11213-27. doi: 10.1523/JNEUROSCI.0521-12.2012.
J Neurosci. 2012.
PMID: 22895706
Free PMC article.
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Reconstruction of chemical molecules from images.
Algorri ME, Zimmermann M, Friedrich CM, Akle S, Hofmann-Apitius M.
Algorri ME, et al. Among authors: akle s.
Annu Int Conf IEEE Eng Med Biol Soc. 2007;2007:4609-12. doi: 10.1109/IEMBS.2007.4353366.
Annu Int Conf IEEE Eng Med Biol Soc. 2007.
PMID: 18003032
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