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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
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.
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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Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.
Helbig I, Barcia G, Pendziwiat M, Ganesan S, Mueller SH, Helbig KL, Vaidiswaran P, Xian J, Galer PD, Afawi Z, Specchio N, Kluger G, Kuhlenbäumer G, Appenzeller S, Wittig M, Kramer U, van Baalen A, Nabbout R; FIRES Genetics Study Group.
Helbig I, et al. Among authors: vaidiswaran p.
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.
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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 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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