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Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.
Ann Clin Transl Neurol. 2020 Aug;7(8):1429-1435. doi: 10.1002/acn3.51062. Epub 2020 Jul 14.
Ann Clin Transl Neurol. 2020.
PMID: 32666661
Free PMC article.
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu; Epi25 Collaborative.
Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu, et al.
Am J Hum Genet. 2021 Jun 3;108(6):965-982. doi: 10.1016/j.ajhg.2021.04.009. Epub 2021 Apr 30.
Am J Hum Genet. 2021.
PMID: 33932343
Free PMC article.
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Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable.
Lewis-Smith D, Galer PD, Balagura G, Kearney H, Ganesan S, Cosico M, O'Brien M, Vaidiswaran P, Krause R, Ellis CA, Thomas RH, Robinson PN, Helbig I.
Lewis-Smith D, et al. Among authors: vaidiswaran p.
Epilepsia. 2021 Jun;62(6):1293-1305. doi: 10.1111/epi.16908. Epub 2021 May 5.
Epilepsia. 2021.
PMID: 33949685
Free PMC article.
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu; Epi25 Collaborative.
Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu, et al.
Am J Hum Genet. 2021 Oct 7;108(10):2024. doi: 10.1016/j.ajhg.2021.08.008.
Am J Hum Genet. 2021.
PMID: 34626584
Free PMC article.
No abstract available.
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Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D.
Montanucci L, et al.
Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6.
Nat Commun. 2023.
PMID: 37474567
Free PMC article.
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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
International League Against Epilepsy Consortium on Complex Epilepsies.
International League Against Epilepsy Consortium on Complex Epilepsies.
Nat Genet. 2023 Sep;55(9):1471-1482. doi: 10.1038/s41588-023-01485-w. Epub 2023 Aug 31.
Nat Genet. 2023.
PMID: 37653029
Free PMC article.
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