Stanley K - Search Results

1

Genomic analysis of "microphenotypes" in epilepsy.

Stanley K, Hostyk J, Tran L, Amengual-Gual M, Dugan P, Clark J, Choi H, Tchapyjnikov D, Perucca P, Fernandes C, Andrade D, Devinsky O; pSERG Consortium, the EPIGEN Consortium; Cavalleri GL, Depondt C, Sen A, O'Brien T, Heinzen E, Loddenkemper T, Goldstein DB, Mikati MA, Delanty N. Stanley K, et al. Am J Med Genet A. 2022 Jan;188(1):138-146. doi: 10.1002/ajmg.a.62505. Epub 2021 Sep 27. Am J Med Genet A. 2022. PMID: 34569149

2

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.

Epi25 Collaborative. Electronic address: [email protected]; Epi25 Collaborative. Epi25 Collaborative. Electronic address: [email protected], et al. Am J Hum Genet. 2019 Aug 1;105(2):267-282. doi: 10.1016/j.ajhg.2019.05.020. Epub 2019 Jul 18. Am J Hum Genet. 2019. PMID: 31327507 Free PMC article.

3

Causal Genetic Variants in Stillbirth.

Stanley KE, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari AV, Revah-Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker CB, Goldenberg R, Saade GR, Dudley DJ, Pinar H, Hogue C, Reddy UM, Silver RM, Aggarwal V, Allen AS, Wapner RJ, Goldstein DB. Stanley KE, et al. N Engl J Med. 2020 Sep 17;383(12):1107-1116. doi: 10.1056/NEJMoa1908753. Epub 2020 Aug 12. N Engl J Med. 2020. PMID: 32786180 Free PMC article.

4

Causal Genetic Variants in Stillbirth. Reply.

Stanley KE, Wapner RJ, Goldstein DB. Stanley KE, et al. N Engl J Med. 2020 Dec 31;383(27):2687-2688. doi: 10.1056/NEJMc2032136. N Engl J Med. 2020. PMID: 33382938 No abstract available.

5

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Epi25 Collaborative. Electronic address: [email protected]; Epi25 Collaborative. Epi25 Collaborative. Electronic address: [email protected], 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.

6

Distinct gene-set burden patterns underlie common generalized and focal epilepsies.

Koko M, Krause R, Sander T, Bobbili DR, Nothnagel M, May P, Lerche H; Epi25 Collaborative. Koko M, et al. EBioMedicine. 2021 Oct;72:103588. doi: 10.1016/j.ebiom.2021.103588. Epub 2021 Sep 24. EBioMedicine. 2021. PMID: 34571366 Free PMC article.

7

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Epi25 Collaborative. Electronic address: [email protected]; Epi25 Collaborative. Epi25 Collaborative. Electronic address: [email protected], 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.

8

Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.

Koko M, Motelow JE, Stanley KE, Bobbili DR, Dhindsa RS, May P; Canadian Epilepsy Network; Epi4K Consortium; Epilepsy Phenome/Genome Project; EpiPGX Consortium; EuroEPINOMICS-CoGIE Consortium. Koko M, et al. Epilepsia. 2022 Mar;63(3):723-735. doi: 10.1111/epi.17166. Epub 2022 Jan 15. Epilepsia. 2022. PMID: 35032048 Free PMC article.

9

Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.

Perucca P, Stanley K, Harris N, McIntosh AM, Asadi-Pooya AA, Mikati MA, Andrade DM, Dugan P, Depondt C, Choi H, Heinzen EL, Cavalleri GL, Buono RJ, Devinsky O, Sperling MR, Berkovic SF, Delanty N, Goldstein DB, O'Brien TJ; EPIGEN Consortium. Perucca P, et al. Among authors: stanley k. Ann Neurol. 2022 Dec 19. doi: 10.1002/ana.26581. Online ahead of print. Ann Neurol. 2022. PMID: 36534060

10

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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