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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 1
2020 5
2021 4
2022 3
2023 1

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14 results

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Page 1
The Human Phenotype Ontology in 2021.
Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN. Köhler S, et al. Among authors: galer pd. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043. Nucleic Acids Res. 2021. PMID: 33264411 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: galer pd. 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.
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: galer pd. 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.
Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing.
Xie K, Gallagher RS, Conrad EC, Garrick CO, Baldassano SN, Bernabei JM, Galer PD, Ghosn NJ, Greenblatt AS, Jennings T, Kornspun A, Kulick-Soper CV, Panchal JM, Pattnaik AR, Scheid BH, Wei D, Weitzman M, Muthukrishnan R, Kim J, Litt B, Ellis CA, Roth D. Xie K, et al. Among authors: galer pd. J Am Med Inform Assoc. 2022 Apr 13;29(5):873-881. doi: 10.1093/jamia/ocac018. J Am Med Inform Assoc. 2022. PMID: 35190834 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: galer pd. 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.
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A; NCEE Study Group; EPGP Investigators; EuroEPINOMICS-RES Consortium; Genomics Research and Innovation Network; Thomas RH, Krause R, Weber Y, Helbig I. Galer PD, et al. Am J Hum Genet. 2020 Oct 1;107(4):683-697. doi: 10.1016/j.ajhg.2020.08.003. Epub 2020 Aug 26. Am J Hum Genet. 2020. PMID: 32853554 Free PMC article.
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: galer pd. Neurology. 2020 Sep 1;95(9):e1257-e1266. doi: 10.1212/WNL.0000000000010010. Epub 2020 Jun 9. Neurology. 2020. PMID: 32518152 Free PMC article.
14 results