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Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome.
Ann Neurol. 2020 Mar;87(3):339-346. doi: 10.1002/ana.25676. Epub 2020 Feb 6.
Ann Neurol. 2020.
PMID: 31943325
Free PMC article.
Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse.
Yu W, Smolen CE, Hill SF, Meisler MH.
Yu W, et al. Among authors: smolen ce.
Hum Mol Genet. 2021 May 29;30(10):902-907. doi: 10.1093/hmg/ddab092.
Hum Mol Genet. 2021.
PMID: 33822038
Free PMC article.
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Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.
Jensen M, Tyryshkina A, Pizzo L, Smolen C, Das M, Huber E, Krishnan A, Girirajan S.
Jensen M, et al.
Genome Med. 2021 Oct 18;13(1):163. doi: 10.1186/s13073-021-00982-z.
Genome Med. 2021.
PMID: 34657631
Free PMC article.
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Gene discoveries in autism are biased towards comorbidity with intellectual disability.
Jensen M, Smolen C, Girirajan S.
Jensen M, et al.
J Med Genet. 2020 Sep;57(9):647-652. doi: 10.1136/jmedgenet-2019-106476. Epub 2020 Mar 9.
J Med Genet. 2020.
PMID: 32152248
Free PMC article.
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The gene dose makes the disease.
Smolen C, Girirajan S.
Smolen C, et al.
Cell. 2022 Aug 4;185(16):2850-2852. doi: 10.1016/j.cell.2022.07.005.
Cell. 2022.
PMID: 35931018
Free PMC article.
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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Luana Mandarà GM, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S.
Smolen C, et al.
Am J Hum Genet. 2023 Dec 7;110(12):2015-2028. doi: 10.1016/j.ajhg.2023.10.015. Epub 2023 Nov 17.
Am J Hum Genet. 2023.
PMID: 37979581
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