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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M. Henden L, et al. Among authors: freytag s. Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1. Hum Genet. 2016. PMID: 27368338
Subgroups in the treatment of nasal polyposis with dupilumab: A retrospective study.
Bertlich M, Freytag S, Dombrowski T, Jurmeister P, Spiegel JL, Bertlich I, Ihler F, Weiss BG, Haubner F, Gröger M. Bertlich M, et al. Among authors: freytag s. Medicine (Baltimore). 2022 Nov 11;101(45):e31031. doi: 10.1097/MD.0000000000031031. Medicine (Baltimore). 2022. PMID: 36397403 Free PMC article.
Coverage and efficiency in current SNP chips.
Ha NT, Freytag S, Bickeboeller H. Ha NT, et al. Among authors: freytag s. Eur J Hum Genet. 2014 Sep;22(9):1124-30. doi: 10.1038/ejhg.2013.304. Epub 2014 Jan 22. Eur J Hum Genet. 2014. PMID: 24448550 Free PMC article.
brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets.
Freytag S, Burgess R, Oliver KL, Bahlo M. Freytag S, et al. Genome Med. 2017 Jun 8;9(1):55. doi: 10.1186/s13073-017-0444-y. Genome Med. 2017. PMID: 28595657 Free PMC article.
We achieved average sensitivity of nearly 50%, at the same time reaching a specificity of approximately 75%. We also compared brain-coX's performance to that of its main competitors, Endeavour and ToppGene, focusing on the ability to discover novel associations. Using a su …
We achieved average sensitivity of nearly 50%, at the same time reaching a specificity of approximately 75%. We also compared brain-coX's …
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. Myers CT, et al. Among authors: freytag s. Am J Hum Genet. 2017 Oct 5;101(4):516-524. doi: 10.1016/j.ajhg.2017.08.013. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942967 Free PMC article.
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project. Heinzen EL, et al. Among authors: freytag s. PLoS Genet. 2018 May 8;14(5):e1007281. doi: 10.1371/journal.pgen.1007281. eCollection 2018 May. PLoS Genet. 2018. PMID: 29738522 Free PMC article.
149 results