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A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.
Howell KB, Eggers S, Dalziel K, Riseley J, Mandelstam S, Myers CT, McMahon JM, Schneider A, Carvill GL, Mefford HC; Victorian Severe Epilepsy of Infancy Study Group; Scheffer IE, Harvey AS. Howell KB, et al. Among authors: mefford hc. Epilepsia. 2018 Jun;59(6):1177-1187. doi: 10.1111/epi.14087. Epub 2018 May 11. Epilepsia. 2018. PMID: 29750358 Free PMC article.
Recent advances in epilepsy genomics and genetic testing.
Hebbar M, Mefford HC. Hebbar M, et al. Among authors: mefford hc. F1000Res. 2020 Mar 12;9:F1000 Faculty Rev-185. doi: 10.12688/f1000research.21366.1. eCollection 2020. F1000Res. 2020. PMID: 32201576 Free PMC article. Review.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Rare copy number variants are an important cause of epileptic encephalopathies.
Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE. Mefford HC, et al. Ann Neurol. 2011 Dec;70(6):974-85. doi: 10.1002/ana.22645. Ann Neurol. 2011. PMID: 22190369 Free PMC article.
Genomics, intellectual disability, and autism.
Mefford HC, Batshaw ML, Hoffman EP. Mefford HC, et al. N Engl J Med. 2012 Feb 23;366(8):733-43. doi: 10.1056/NEJMra1114194. N Engl J Med. 2012. PMID: 22356326 Free PMC article. Review. No abstract available.
Microdeletion syndromes.
Carvill GL, Mefford HC. Carvill GL, et al. Among authors: mefford hc. 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.
271 results