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De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T, Jech R, Brugger M, Kovacs R, Alhaddad B, Leszinski G, Riedhammer KM, Westphal DS, Mahle I, Mayerhanser K, Skorvanek M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Kotzaeridou U, Hoffmann GF, Leiz S, Makowski C, Roser T, Schroeder SA, Steinfeld R, Strobl-Wildemann G, Hoefele J, Borggraefe I, Distelmaier F, Strom TM, Winkelmann J, Meitinger T, Zech M, Wagner M. Brunet T, et al. Among authors: strobl wildemann g. Clin Genet. 2021 Jul;100(1):14-28. doi: 10.1111/cge.13946. Epub 2021 Mar 1. Clin Genet. 2021. PMID: 33619735
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: strobl wildemann g. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
AlAbdi L, Desbois M, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC; Undiagnosed Diseases Network; Billie Au PY, Towner S, Wilson WG, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Zarate YA, Christensen EL, Opperman KJ, Giles AC, Helaby R, Kania A, Zheng N, Grill B, Alkuraya FS. AlAbdi L, et al. Among authors: strobl wildemann g. Brain. 2023 Apr 19;146(4):1373-1387. doi: 10.1093/brain/awac364. Brain. 2023. PMID: 36200388 Free PMC article.
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.
Herbst SM, Proepper CR, Geis T, Borggraefe I, Hahn A, Debus O, Haeussler M, von Gersdorff G, Kurlemann G, Ensslen M, Beaud N, Budde J, Gilbert M, Heiming R, Morgner R, Philippi H, Ross S, Strobl-Wildemann G, Muelleder K, Vosschulte P, Morris-Rosendahl DJ, Schuierer G, Hehr U. Herbst SM, et al. Among authors: strobl wildemann g. Brain Dev. 2016 Apr;38(4):399-406. doi: 10.1016/j.braindev.2015.10.001. Epub 2015 Oct 19. Brain Dev. 2016. PMID: 26494205
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.
Witt D, Faust U, Strobl-Wildemann G, Sturm M, Buchert R, Zuleger T, Admard J, Casadei N, Ossowski S, Haack TB, Rieß O, Schroeder C. Witt D, et al. Among authors: strobl wildemann g. Mol Genet Genomic Med. 2023 Jun;11(6):e2151. doi: 10.1002/mgg3.2151. Epub 2023 Feb 9. Mol Genet Genomic Med. 2023. PMID: 36760167 Free PMC article.
17 results