Kamalakaran S - Search Results

1

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.

2

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.

3

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.

4

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.

Stevelink R, Luykx JJ, Lin BD, Leu C, Lal D, Smith AW, Schijven D, Carpay JA, Rademaker K, Rodrigues Baldez RA, Devinsky O, Braun KPJ, Jansen FE, Smit DJA, Koeleman BPC; International League Against Epilepsy Consortium on Complex Epilepsies; Epi25 Collaborative. Stevelink R, et al. Epilepsia. 2021 Jul;62(7):1518-1527. doi: 10.1111/epi.16922. Epub 2021 May 18. Epilepsia. 2021. PMID: 34002374 Free PMC article.

5

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.

6

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D; Epi25 Collaborative. Niestroj LM, et al. Brain. 2020 Jul 1;143(7):2106-2118. doi: 10.1093/brain/awaa171. Brain. 2020. PMID: 32568404 Free PMC article.

7

Polygenic burden in focal and generalized epilepsies.

Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium; Lal D. Leu C, et al. Brain. 2019 Nov 1;142(11):3473-3481. doi: 10.1093/brain/awz292. Brain. 2019. PMID: 31608925 Free PMC article.

8

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

Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au; Epi25 Collaborative. Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, 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.

9

Exome-Based Rare-Variant Analyses in CKD.

Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG. Cameron-Christie S, et al. Among authors: kamalakaran s. J Am Soc Nephrol. 2019 Jun;30(6):1109-1122. doi: 10.1681/ASN.2018090909. Epub 2019 May 13. J Am Soc Nephrol. 2019. PMID: 31085678 Free PMC article.

10

A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.

Wolock CJ, Stong N, Ma CJ, Nagasaki T, Lee W, Tsang SH, Kamalakaran S, Goldstein DB, Allikmets R. Wolock CJ, et al. Among authors: kamalakaran s. Genet Med. 2019 Oct;21(10):2336-2344. doi: 10.1038/s41436-019-0495-0. Epub 2019 Mar 30. Genet Med. 2019. PMID: 30926958 Free PMC article.

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