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811 results

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Page 1
The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.
Magielski J, Ruggiero SM, Xian J, Parthasarathy S, Galer P, Ganesan S, Back A, McKee J, McSalley I, Gonzalez AK, Morgan A, Donaher J, Helbig I. Magielski J, et al. Among authors: xian j. medRxiv [Preprint]. 2024 Apr 23:2024.04.23.24306192. doi: 10.1101/2024.04.23.24306192. medRxiv. 2024. Update in: Brain. 2024 Oct 16:awae264. doi: 10.1093/brain/awae264 PMID: 38712155 Free PMC article. Updated. Preprint.
Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic.
Rametta SC, Fridinger SE, Gonzalez AK, Xian J, Galer PD, Kaufman M, Prelack MS, Sharif U, Fitzgerald MP, Melamed SE, Malcolm MP, Kessler SK, Stephenson DJ, Banwell BL, Abend NS, Helbig I. Rametta SC, et al. Among authors: xian j. Neurology. 2020 Sep 1;95(9):e1257-e1266. doi: 10.1212/WNL.0000000000010010. Epub 2020 Jun 9. Neurology. 2020. PMID: 32518152 Free PMC article.
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: xian j. 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.
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: xian j. 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.
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. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
Visits of concern in child neurology telemedicine.
Prelack M, Fridinger S, Gonzalez AK, Kaufman MC, Xian J, Galer PD, Craig S, Abend NS, Helbig I; CHOP Neuroscience Center - VOC Research Group*. Prelack M, et al. Among authors: xian j. Dev Med Child Neurol. 2022 Nov;64(11):1351-1358. doi: 10.1111/dmcn.15256. Epub 2022 May 5. Dev Med Child Neurol. 2022. PMID: 35514061 Free PMC article.
A disease concept model for STXBP1-related disorders.
Sullivan KR, Ruggiero SM, Xian J, Thalwitzer KM, Ali R, Stewart S, Cosico M, Steinberg J, Goss J, Pfalzer AC, Horning KJ, Weitzel N, Corey S, Conway L, Rigby CS, Bichell TJ, Helbig I. Sullivan KR, et al. Among authors: xian j. Epilepsia Open. 2023 Jun;8(2):320-333. doi: 10.1002/epi4.12688. Epub 2023 Apr 27. Epilepsia Open. 2023. PMID: 36625631 Free PMC article.
Guardians of the epilepsy genome.
Xian J, Helbig I. Xian J, et al. Eur J Paediatr Neurol. 2023 Jan;42:A4-A6. doi: 10.1016/j.ejpn.2023.01.003. Epub 2023 Jan 6. Eur J Paediatr Neurol. 2023. PMID: 36720654 No abstract available.
811 results