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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC. Dines JN, et al. Among authors: muhle h. Genet Med. 2019 Mar;21(3):601-607. doi: 10.1038/s41436-018-0137-y. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245509 Free PMC article.
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. Helbig I, et al. Among authors: muhle h. Nat Genet. 2009 Feb;41(2):160-2. doi: 10.1038/ng.292. Epub 2009 Jan 11. Nat Genet. 2009. PMID: 19136953 Free PMC article.
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M. Caliebe A, et al. Among authors: muhle h. Eur J Med Genet. 2010 Jul-Aug;53(4):179-85. doi: 10.1016/j.ejmg.2010.04.001. Epub 2010 Apr 9. Eur J Med Genet. 2010. PMID: 20382278
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE. Mefford HC, et al. Among authors: muhle h. PLoS Genet. 2010 May 20;6(5):e1000962. doi: 10.1371/journal.pgen.1000962. PLoS Genet. 2010. PMID: 20502679 Free PMC article.
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD. Bachmann-Gagescu R, et al. Among authors: muhle h. Genet Med. 2010 Oct;12(10):641-7. doi: 10.1097/GIM.0b013e3181ef4286. Genet Med. 2010. PMID: 20808231 Free article.
A retrospective population-based study on seizures related to childhood vaccination.
von Spiczak S, Helbig I, Drechsel-Baeuerle U, Muhle H, van Baalen A, van Kempen MJ, Lindhout D, Scheffer IE, Berkovic SF, Stephani U, Keller-Stanislawski B. von Spiczak S, et al. Among authors: muhle h. Epilepsia. 2011 Aug;52(8):1506-12. doi: 10.1111/j.1528-1167.2011.03134.x. Epub 2011 Jun 21. Epilepsia. 2011. PMID: 21692791 Free article.
212 results