Schmidt WM - Search Results

1

Episignature analysis of moderate effects and mosaics.

Oexle K, Zech M, Stühn LG, Siegert S, Brunet T, Schmidt WM, Wagner M, Schmidt A, Engels H, Tilch E, Monestier O, Destrėe A, Hanker B, Boesch S, Jech R, Berutti R, Kaiser F, Haslinger B, Haack TB, Garavaglia B, Krawitz P, Winkelmann J, Mirza-Schreiber N. Oexle K, et al. Among authors: schmidt wm. Eur J Hum Genet. 2023 Sep;31(9):1032-1039. doi: 10.1038/s41431-023-01406-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365401 Free PMC article.

2

A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia.

Schöggl J, Siegert S, Boltshauser E, Freilinger M, Schmidt WM. Schöggl J, et al. Among authors: schmidt wm. Mov Disord. 2022 Aug;37(8):1774-1776. doi: 10.1002/mds.29054. Epub 2022 May 12. Mov Disord. 2022. PMID: 35560436 Free PMC article. No abstract available.

3

Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition.

Siegert S, Schmidt WM, Pletschko T, Bittner RE, Gobara S, Freilinger M. Siegert S, et al. Among authors: schmidt wm. Neuropediatrics. 2021 Oct;52(5):377-382. doi: 10.1055/s-0040-1722686. Epub 2021 Jan 28. Neuropediatrics. 2021. PMID: 33511595

4

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Baumann M, Steichen-Gersdorf E, Krabichler B, Petersen BS, Weber U, Schmidt WM, Zschocke J, Müller T, Bittner RE, Janecke AR. Baumann M, et al. Among authors: schmidt wm. Eur J Hum Genet. 2017 Feb;25(2):262-266. doi: 10.1038/ejhg.2016.144. Epub 2016 Oct 26. Eur J Hum Genet. 2017. PMID: 27782104 Free PMC article.

5

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.

Schmidt WM, Rutledge SL, Schüle R, Mayerhofer B, Züchner S, Boltshauser E, Bittner RE. Schmidt WM, et al. Am J Hum Genet. 2015 Dec 3;97(6):855-61. doi: 10.1016/j.ajhg.2015.10.011. Epub 2015 Nov 12. Am J Hum Genet. 2015. PMID: 26581903 Free PMC article.

6

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.

Bader I, Freilinger M, Landauer F, Waldmüller S, Mueller-Felber W, Rauscher C, Sperl W, Bittner RE, Schmidt WM, Mayr JA. Bader I, et al. Among authors: schmidt wm. Orphanet J Rare Dis. 2022 Jul 19;17(1):279. doi: 10.1186/s13023-022-02421-7. Orphanet J Rare Dis. 2022. PMID: 35854315 Free PMC article. Review.

7

DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.

Schmidt WM, Uddin MH, Dysek S, Moser-Thier K, Pirker C, Höger H, Ambros IM, Ambros PF, Berger W, Bittner RE. Schmidt WM, et al. PLoS Genet. 2011 Apr;7(4):e1002042. doi: 10.1371/journal.pgen.1002042. Epub 2011 Apr 14. PLoS Genet. 2011. PMID: 21533183 Free PMC article.

8

IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY.

Deák GG, Schmidt WM, Bittner RE, Mylonas G, Roberts PK, Zotter S, Baumann B, Pircher M, Hitzenberger CK, Schmidt-Erfurth UM, Ritter M. Deák GG, et al. Among authors: schmidt erfurth um, schmidt wm. Retina. 2019 Mar;39(3):558-569. doi: 10.1097/IAE.0000000000001987. Retina. 2019. PMID: 29215532

9

Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth.

Bodamer OA, Mitterer G, Maurer W, Pollak A, Mueller MW, Schmidt WM. Bodamer OA, et al. Among authors: schmidt wm. Genet Med. 2006 Aug;8(8):518-24. doi: 10.1097/01.gim.0000232478.43335.19. Genet Med. 2006. PMID: 16912583 Free article.

10

Characterization of stargardt disease using polarization-sensitive optical coherence tomography and fundus autofluorescence imaging.

Ritter M, Zotter S, Schmidt WM, Bittner RE, Deak GG, Pircher M, Sacu S, Hitzenberger CK, Schmidt-Erfurth UM; Macula Study Group Vienna. Ritter M, et al. Among authors: schmidt erfurth um, schmidt wm. Invest Ophthalmol Vis Sci. 2013 Sep 27;54(9):6416-25. doi: 10.1167/iovs.12-11550. Invest Ophthalmol Vis Sci. 2013. PMID: 23882696

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