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Page 1
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology. 2023 Apr;164(4):579-592.e8. doi: 10.1053/j.gastro.2022.12.017. Epub 2022 Dec 29.
Gastroenterology. 2023.
PMID: 36586540
Free article.
Array genotyping as diagnostic approach in medical genetics.
Witsch-Baumgartner M, Schwaninger G, Schnaiter S, Kollmann F, Burkhard S, Gröbner R, Mühlegger B, Schamschula E, Kirchmeier P, Zschocke J.
Witsch-Baumgartner M, et al. Among authors: schamschula e.
Mol Genet Genomic Med. 2022 Sep;10(9):e2016. doi: 10.1002/mgg3.2016. Epub 2022 Aug 1.
Mol Genet Genomic Med. 2022.
PMID: 35912641
Free PMC article.
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Immunotyping of clinically divergent p.Phe508del homozygous monozygous cystic fibrosis twins.
Schamschula E, Hagmann W, Assenov Y, Hedtfeld S, Farag AK, Roesner LM, Wiehlmann L, Stanke F, Fischer S, Risch A, Tümmler B.
Schamschula E, et al.
J Cyst Fibros. 2021 Jan;20(1):149-153. doi: 10.1016/j.jcf.2020.06.009. Epub 2020 Jun 13.
J Cyst Fibros. 2021.
PMID: 32540173
Free article.
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Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Schamschula E, Kinzel M, Wernstedt A, Oberhuber K, Gottschling H, Schnaiter S, Friedrichs N, Merkelbach-Bruse S, Zschocke J, Gallon R, Wimmer K.
Schamschula E, et al.
Biomolecules. 2022 Sep 22;12(10):1350. doi: 10.3390/biom12101350.
Biomolecules. 2022.
PMID: 36291559
Free PMC article.
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Disease-related blood-based differential methylation in cystic fibrosis and its representation in lung cancer revealed a regulatory locus in PKP3 in lung epithelial cells.
Schamschula E, Lahnsteiner A, Assenov Y, Hagmann W, Zaborsky N, Wiederstein M, Strobl A, Stanke F, Muley T, Plass C, Tümmler B, Risch A.
Schamschula E, et al.
Epigenetics. 2022 Aug;17(8):837-860. doi: 10.1080/15592294.2021.1959976. Epub 2021 Aug 20.
Epigenetics. 2022.
PMID: 34415821
Free PMC article.
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Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
Fernandez-Rozadilla C, Alvarez-Barona M, Schamschula E, Bodo S, Lopez-Novo A, Dacal A, Calviño-Costas C, Lancho A, Amigo J, Bello X, Cameselle-Teijeiro JM, Carracedo A, Colas C, Muleris M, Wimmer K, Ruiz-Ponte C.
Fernandez-Rozadilla C, et al. Among authors: schamschula e.
Cancers (Basel). 2019 Jul 30;11(8):1081. doi: 10.3390/cancers11081081.
Cancers (Basel). 2019.
PMID: 31366136
Free PMC article.
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AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.
Wimmer K, Schamschula E, Wernstedt A, Traunfellner P, Amberger A, Zschocke J, Kroisel P, Chen Y, Callens T, Messiaen L.
Wimmer K, et al. Among authors: schamschula e.
Hum Mutat. 2020 Jun;41(6):1145-1156. doi: 10.1002/humu.24005. Epub 2020 Mar 11.
Hum Mutat. 2020.
PMID: 32126153
Free PMC article.
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