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Year Number of Results
2020 1
2021 2
2022 5
2023 5
2024 2

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14 results

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Page 1
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Among authors: parthasarathy s. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 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. Among authors: parthasarathy s. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.
Mortality in tuberous sclerosis complex.
Parthasarathy S, Mahalingam R, Melchiorre J, Harowitz J, Devinsky O. Parthasarathy S, et al. Epilepsy Behav. 2021 Aug;121(Pt A):108032. doi: 10.1016/j.yebeh.2021.108032. Epub 2021 Jun 1. Epilepsy Behav. 2021. PMID: 34087679
Early life seizures and epileptic spasms in STXBP1-related disorders.
Thalwitzer KM, Xian J, deCampo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I. Thalwitzer KM, et al. Among authors: parthasarathy s. medRxiv [Preprint]. 2023 Jun 28:2023.06.26.23291892. doi: 10.1101/2023.06.26.23291892. medRxiv. 2023. PMID: 37425705 Free PMC article. Updated. Preprint.
Early life seizures and epileptic spasms in STXBP1-related disorders.
Thalwitzer KM, Xian J, de Campo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I. Thalwitzer KM, et al. Among authors: parthasarathy s. Epilepsia. 2024 Mar;65(3):805-816. doi: 10.1111/epi.17886. Epub 2024 Jan 27. Epilepsia. 2024. PMID: 38279907
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Crawford K, Xian J, Helbig KL, Galer PD, Parthasarathy S, Lewis-Smith D, Kaufman MC, Fitch E, Ganesan S, O'Brien M, Codoni V, Ellis CA, Conway LJ, Taylor D, Krause R, Helbig I. Crawford K, et al. Among authors: parthasarathy s. Genet Med. 2021 Jul;23(7):1263-1272. doi: 10.1038/s41436-021-01120-1. Epub 2021 Mar 17. Genet Med. 2021. PMID: 33731876 Free PMC article.
14 results