Winter J - Search Results

1

Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines.

Weißbach S, Sys S, Hewel C, Todorov H, Schweiger S, Winter J, Pfenninger M, Torkamani A, Evans D, Burger J, Everschor-Sitte K, May-Simera HL, Gerber S. Weißbach S, et al. Among authors: winter j. BMC Genomics. 2021 Jan 19;22(1):62. doi: 10.1186/s12864-020-07362-8. BMC Genomics. 2021. PMID: 33468057 Free PMC article.

2

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.

Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers HH, Schweiger S. Winter J, et al. Hum Genet. 2003 Mar;112(3):249-54. doi: 10.1007/s00439-002-0901-5. Epub 2003 Jan 24. Hum Genet. 2003. PMID: 12545276

3

Alternative polyadenylation signals and promoters act in concert to control tissue-specific expression of the Opitz Syndrome gene MID1.

Winter J, Kunath M, Roepcke S, Krause S, Schneider R, Schweiger S. Winter J, et al. BMC Mol Biol. 2007 Nov 15;8:105. doi: 10.1186/1471-2199-8-105. BMC Mol Biol. 2007. PMID: 18005432 Free PMC article.

4

Comparative 3'UTR analysis allows identification of regulatory clusters that drive Eph/ephrin expression in cancer cell lines.

Winter J, Roepcke S, Krause S, Müller EC, Otto A, Vingron M, Schweiger S. Winter J, et al. PLoS One. 2008 Jul 23;3(7):e2780. doi: 10.1371/journal.pone.0002780. PLoS One. 2008. PMID: 18648668 Free PMC article.

5

Mitochondrial function and energy metabolism in neuronal HT22 cells resistant to oxidative stress.

Pfeiffer A, Jaeckel M, Lewerenz J, Noack R, Pouya A, Schacht T, Hoffmann C, Winter J, Schweiger S, Schäfer MK, Methner A. Pfeiffer A, et al. Among authors: winter j. Br J Pharmacol. 2014 Apr;171(8):2147-58. doi: 10.1111/bph.12549. Br J Pharmacol. 2014. PMID: 24319993 Free PMC article.

6

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Komlosi K, Diederich S, Fend-Guella DL, Bartsch O, Winter J, Zechner U, Beck M, Meyer P, Schweiger S. Komlosi K, et al. Among authors: winter j. Orphanet J Rare Dis. 2018 Jan 26;13(1):23. doi: 10.1186/s13023-018-0763-0. Orphanet J Rare Dis. 2018. PMID: 29373990 Free PMC article.

7

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Kahrizi K, Huber M, Galetzka D, Dewi S, Schröder J, Weis E, Kariminejad A, Fattahi Z, Ropers HH, Schweiger S, Najmabadi H, Winter J. Kahrizi K, et al. Among authors: winter j. Am J Med Genet A. 2019 Jul;179(7):1214-1225. doi: 10.1002/ajmg.a.61172. Epub 2019 May 9. Am J Med Genet A. 2019. PMID: 31069901

8

Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome.

Cooper A, Butto T, Hammer N, Jagannath S, Fend-Guella DL, Akhtar J, Radyushkin K, Lesage F, Winter J, Strand S, Roeper J, Zechner U, Schweiger S. Cooper A, et al. Among authors: winter j. Nat Commun. 2020 Jan 24;11(1):480. doi: 10.1038/s41467-019-13918-4. Nat Commun. 2020. PMID: 31980599 Free PMC article.

9

INTACT vs. FANS for Cell-Type-Specific Nuclei Sorting: A Comprehensive Qualitative and Quantitative Comparison.

Chongtham MC, Butto T, Mungikar K, Gerber S, Winter J. Chongtham MC, et al. Among authors: winter j. Int J Mol Sci. 2021 May 19;22(10):5335. doi: 10.3390/ijms22105335. Int J Mol Sci. 2021. PMID: 34069481 Free PMC article.

10

mTOR Driven Gene Transcription Is Required for Cholesterol Production in Neurons of the Developing Cerebral Cortex.

Schüle M, Butto T, Dewi S, Schlichtholz L, Strand S, Gerber S, Endres K, Schweiger S, Winter J. Schüle M, et al. Among authors: winter j. Int J Mol Sci. 2021 Jun 3;22(11):6034. doi: 10.3390/ijms22116034. Int J Mol Sci. 2021. PMID: 34204880 Free PMC article.

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