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In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.
Le Duc D, Hentschel J, Neuser S, Stiller M, Meier C, Jäger E, Abou Jamra R, Platzer K, Monecke A, Ziemer M, Markovic A, Bläker H, Lemke JR. Le Duc D, et al. Among authors: stiller m. Eur J Hum Genet. 2021 Mar;29(3):489-494. doi: 10.1038/s41431-020-00781-x. Epub 2020 Dec 15. Eur J Hum Genet. 2021. PMID: 33319852 Free PMC article.
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher P, Mayer T, Brandhoff F, Bartolomaeus T, Le Duc D, Finzel M, Heinze A, Horn S, Klöckner C, Körber G, Hentschel J, Kalita M, Krey I, Nastainczyk-Wulf M, Platzer K, Rebstock J, Popp B, Stiller M, Teichmann AC, Jamra RA, Lemke JR. Zacher P, et al. Among authors: stiller m. Genet Med. 2021 Aug;23(8):1492-1497. doi: 10.1038/s41436-021-01153-6. Epub 2021 Apr 28. Genet Med. 2021. PMID: 33911214 Free PMC article.
Parental mosaicism in epilepsies due to alleged de novo variants.
Møller RS, Liebmann N, Larsen LHG, Stiller M, Hentschel J, Kako N, Abdin D, Di Donato N, Pal DK, Zacher P, Syrbe S, Dahl HA, Lemke JR. Møller RS, et al. Among authors: stiller m. Epilepsia. 2019 Jun;60(6):e63-e66. doi: 10.1111/epi.15187. Epub 2019 May 11. Epilepsia. 2019. PMID: 31077350
Analysis of SDHD promoter mutations in various types of melanoma.
Scholz SL, Horn S, Murali R, Möller I, Sucker A, Sondermann W, Stiller M, Schilling B, Livingstone E, Zimmer L, Reis H, Metz CH, Zeschnigk M, Paschen A, Steuhl KP, Schadendorf D, Westekemper H, Griewank KG. Scholz SL, et al. Among authors: stiller m. Oncotarget. 2015 Sep 22;6(28):25868-82. doi: 10.18632/oncotarget.4665. Oncotarget. 2015. PMID: 26327518 Free PMC article.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: stiller m. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system.
van de Nes J, Gessi M, Sucker A, Möller I, Stiller M, Horn S, Scholz SL, Pischler C, Stadtler N, Schilling B, Zimmer L, Hillen U, Scolyer RA, Buckland ME, Lauriola L, Pietsch T, Waha A, Schadendorf D, Murali R, Griewank KG. van de Nes J, et al. Among authors: stiller m. J Neurooncol. 2016 May;127(3):435-44. doi: 10.1007/s11060-015-2052-2. Epub 2016 Jan 7. J Neurooncol. 2016. PMID: 26744134 Free PMC article.
Diagnosing a Primary Leptomeningeal Melanoma by Gene Mutation Signature.
van de Nes J, Wrede K, Ringelstein A, Stiller M, Horn S, Sucker A, Möller I, Scholz SL, Murali R, Gessi M, Schadendorf D, Griewank KG. van de Nes J, et al. Among authors: stiller m. J Invest Dermatol. 2016 Jul;136(7):1526-1528. doi: 10.1016/j.jid.2016.03.031. Epub 2016 Apr 7. J Invest Dermatol. 2016. PMID: 27060446 Free PMC article. No abstract available.
Melanoma Lesions Independently Acquire T-cell Resistance during Metastatic Latency.
Zhao F, Sucker A, Horn S, Heeke C, Bielefeld N, Schrörs B, Bicker A, Lindemann M, Roesch A, Gaudernack G, Stiller M, Becker JC, Lennerz V, Wölfel T, Schadendorf D, Griewank K, Paschen A. Zhao F, et al. Among authors: stiller m. Cancer Res. 2016 Aug 1;76(15):4347-58. doi: 10.1158/0008-5472.CAN-16-0008. Epub 2016 Jun 3. Cancer Res. 2016. PMID: 27261508
191 results