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Year Number of Results
2003 1
2014 5
2015 2
2016 1
2017 6
2018 6
2019 5
2020 2
2021 4
2022 4
2023 3
2024 3

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36 results

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Page 1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, An… See abstract for full author list ➔ Hamdan FF, et al. Among authors: boelman c. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. Am J Hum Genet. 2017. PMID: 29100083 Free PMC article.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. Among authors: boelman c. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Lionel AC, et al. Among authors: boelman c. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, Demos MK. Hebbar M, et al. Among authors: boelman c. Res Sq [Preprint]. 2023 Aug 8:rs.3.rs-3221902. doi: 10.21203/rs.3.rs-3221902/v1. Res Sq. 2023. PMID: 37609289 Free PMC article. Updated. Preprint.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP Jr, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, Demos MK. Hebbar M, et al. Among authors: boelman c. BMC Neurol. 2024 Jan 17;24(1):31. doi: 10.1186/s12883-023-03478-y. BMC Neurol. 2024. PMID: 38233770 Free PMC article.
Position Statement on the Use of Medical Cannabis for the Treatment of Epilepsy in Canada.
Appendino JP, Boelman C, Brna PM, Burneo JG, Claassen CS, Connolly MB, De Guzman MVT, Federico P, Floyd D, Huntsman RJ, Javidan M, Jette N, Jurasek LL, Keezer MR, Lau JC, McCoy B, McLachlan RS, Ng MC, Nguyen DK, Reid AY, Rho JM, Snead OC, Téllez-Zenteno JF, Wang L, Zak MM. Appendino JP, et al. Among authors: boelman c. Can J Neurol Sci. 2019 Nov;46(6):645-652. doi: 10.1017/cjn.2019.282. Can J Neurol Sci. 2019. PMID: 31466531 Review.
Epilepsy in Legius syndrome: Coincidence or causation?
Medina Lemus A, Boelman C, Myers KA. Medina Lemus A, et al. Among authors: boelman c. Am J Med Genet A. 2024 Jun;194(6):e63547. doi: 10.1002/ajmg.a.63547. Epub 2024 Jan 24. Am J Med Genet A. 2024. PMID: 38268057
Effect of Training on Visual Identification of High Frequency Oscillations-A Delphi-Style Intervention.
Spring AM, Pittman DJ, Rizwan A, Aghakhani Y, Jirsch J, Connolly M, Wiebe S, Appendino JP, Datta A, Steve T, Pillay N, Javidan M, Scantlebury M, Hrazdil C, Josephson CB, Boelman C, Gross D, Singh S, Bello-Espinosa L, Huh L, Jetté N, Federico P. Spring AM, et al. Among authors: boelman c. Front Neurol. 2022 Feb 14;13:794668. doi: 10.3389/fneur.2022.794668. eCollection 2022. Front Neurol. 2022. PMID: 35237228 Free PMC article.
36 results