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The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. Helbig I, et al. Among authors: axeen e. Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632. Hum Mutat. 2018. PMID: 30311377 Free PMC article.
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA; Undiagnosed Diseases Network; Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A. Kelly M, et al. Among authors: axeen et. Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25. Epilepsia. 2019. PMID: 30682224 Free PMC article.
Design and implementation of electronic health record common data elements for pediatric epilepsy: Foundations for a learning health care system.
Grinspan ZM, Patel AD, Shellhaas RA, Berg AT, Axeen ET, Bolton J, Clarke DF, Coryell J, Gaillard WD, Goodkin HP, Koh S, Kukla A, Mbwana JS, Morgan LA, Singhal NS, Storey MM, Yozawitz EG, Abend NS, Fitzgerald MP, Fridinger SE, Helbig I, Massey SL, Prelack MS, Buchhalter J; Pediatric Epilepsy Learning Healthcare System. Grinspan ZM, et al. Among authors: axeen et. Epilepsia. 2021 Jan;62(1):198-216. doi: 10.1111/epi.16733. Epub 2020 Dec 24. Epilepsia. 2021. PMID: 33368200 Free PMC article.
Epilepsy and proxy-reported health-related quality of life in children and young people with non-ambulatory cerebral palsy.
Ostendorf AP, Axeen ET, Eschbach K, Fedak Romanowski E, Morgan LA, Gross P, Narayanan UG, Glader L, Noritz G; Cerebral Palsy Research Network. Ostendorf AP, et al. Among authors: axeen et. Dev Med Child Neurol. 2023 Feb;65(2):200-206. doi: 10.1111/dmcn.15336. Epub 2022 Jul 12. Dev Med Child Neurol. 2023. PMID: 35820144 Free PMC article.
GNAO1-Related Disorder.
Briere L, Thiel M, Sweetser DA, Koy A, Axeen E. Briere L, et al. Among authors: axeen e. 2023 Nov 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2023 Nov 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 37956232 Free Books & Documents. Review.
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