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

Year Number of Results
1993 1
2013 5
2014 5
2015 9
2016 6
2017 2
2018 11
2019 5
2020 10
2021 12
2022 5
2023 8
2024 2

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73 results

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Page 1
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Coe BP, et al. Among authors: carvill gl. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217958 Free PMC article.
CHD2-Related Neurodevelopmental Disorders.
Carvill GL, Mefford HC. Carvill GL, et al. 2015 Dec 10 [updated 2021 Jan 21]. 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. 2015 Dec 10 [updated 2021 Jan 21]. 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: 26677509 Free Books & Documents. Review.
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Carvill GL, et al. Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26. Nat Genet. 2013. PMID: 23708187 Free PMC article.
Poison exons in neurodevelopment and disease.
Carvill GL, Mefford HC. Carvill GL, et al. Curr Opin Genet Dev. 2020 Dec;65:98-102. doi: 10.1016/j.gde.2020.05.030. Epub 2020 Jun 29. Curr Opin Genet Dev. 2020. PMID: 32615329 Free PMC article. Review.
Microdeletion syndromes.
Carvill GL, Mefford HC. Carvill GL, et al. Curr Opin Genet Dev. 2013 Jun;23(3):232-9. doi: 10.1016/j.gde.2013.03.004. Epub 2013 May 9. Curr Opin Genet Dev. 2013. PMID: 23664828 Review.
Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.
Van Loo KMJ, Carvill GL, Becker AJ, Conboy K, Goldman AM, Kobow K, Lopes-Cendes I, Reid CA, van Vliet EA, Henshall DC. Van Loo KMJ, et al. Among authors: carvill gl. Nat Rev Neurol. 2022 Sep;18(9):530-543. doi: 10.1038/s41582-022-00693-y. Epub 2022 Jul 20. Nat Rev Neurol. 2022. PMID: 35859062 Review.
Next-Generation Sequencing in Intellectual Disability.
Carvill GL, Mefford HC. Carvill GL, et al. J Pediatr Genet. 2015 Sep;4(3):128-35. doi: 10.1055/s-0035-1564439. Epub 2015 Oct 12. J Pediatr Genet. 2015. PMID: 27617123 Free PMC article. Review.
Importance of genetic diagnosis in the management of early-onset epilepsies.
Esterhuizen AI, Carvill GL, Fieggen K, McIntosh C, Ramesar RS, Wilmshurst JM. Esterhuizen AI, et al. Among authors: carvill gl. S Afr Med J. 2020 Dec 14;111(1):8-9. doi: 10.7196/SAMJ.2020.v111i1.15365. S Afr Med J. 2020. PMID: 33403996 Free article. No abstract available.
Genetic Mosaicism in Calmodulinopathy.
Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr. Wren LM, et al. Among authors: carvill gl. Circ Genom Precis Med. 2019 Sep;12(9):375-385. doi: 10.1161/CIRCGEN.119.002581. Epub 2019 Aug 27. Circ Genom Precis Med. 2019. PMID: 31454269 Free PMC article.
The path from scientific discovery to cures for epilepsy.
Carvill GL, Dulla CG, Lowenstein DH, Brooks-Kayal AR. Carvill GL, et al. Neuropharmacology. 2020 May 1;167:107702. doi: 10.1016/j.neuropharm.2019.107702. Epub 2019 Jul 10. Neuropharmacology. 2020. PMID: 31301334 Review.
73 results