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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 2
2008 3
2009 1
2013 3
2014 4
2015 3
2017 2
2018 2
2019 2
2020 2
2021 6
2022 10
2023 2
2024 4

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39 results

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Page 1
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, K… See abstract for full author list ➔ Parsons MT, et al. Among authors: kaulfuss s. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
An NFATc1/SMAD3/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational Therapies.
Hasselluhn MC, Schlösser D, Versemann L, Schmidt GE, Ulisse M, Oschwald J, Zhang Z, Hamdan F, Xiao H, Kopp W, Spitalieri J, Kellner C, Schneider C, Reutlinger K, Nagarajan S, Steuber B, Sastra SA, Palermo CF, Appelhans J, Bohnenberger H, Todorovic J, Kostyuchek I, Ströbel P, Bockelmann A, König A, Ammer-Herrmenau C, Schmidleitner L, Kaulfuß S, Wollnik B, Hahn SA, Neesse A, Singh SK, Bastians H, Reichert M, Sax U, Olive KP, Johnsen SA, Schneider G, Ellenrieder V, Hessmann E. Hasselluhn MC, et al. Among authors: kaulfuss s. Gastroenterology. 2024 Feb;166(2):298-312.e14. doi: 10.1053/j.gastro.2023.10.026. Epub 2023 Oct 31. Gastroenterology. 2024. PMID: 37913894
TP53-Status-Dependent Oncogenic EZH2 Activity in Pancreatic Cancer.
Versemann L, Patil S, Steuber B, Zhang Z, Kopp W, Krawczyk HE, Kaulfuß S, Wollnik B, Ströbel P, Neesse A, Singh SK, Ellenrieder V, Hessmann E. Versemann L, et al. Among authors: kaulfuss s. Cancers (Basel). 2022 Jul 15;14(14):3451. doi: 10.3390/cancers14143451. Cancers (Basel). 2022. PMID: 35884510 Free PMC article.
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B. Gönenc II, et al. Among authors: kaulfuss s. Clin Genet. 2022 May;101(5-6):559-564. doi: 10.1111/cge.14125. Epub 2022 Mar 11. Clin Genet. 2022. PMID: 35218564
RNF43 pathogenic Germline variant in a family with colorectal cancer.
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ. Mikaeel RR, et al. Among authors: kaulfuss s. Clin Genet. 2022 Jan;101(1):122-126. doi: 10.1111/cge.14064. Epub 2021 Sep 27. Clin Genet. 2022. PMID: 34541672
Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Schmidt J, Schreiber G, Altmüller J, Thiele H, Nürnberg P, Li Y, Kaulfuß S, Funke R, Wilken B, Yigit G, Wollnik B. Schmidt J, et al. Among authors: kaulfuss s. Eur J Hum Genet. 2022 Feb;30(2):211-218. doi: 10.1038/s41431-021-00967-x. Epub 2021 Oct 11. Eur J Hum Genet. 2022. PMID: 34629465 Free PMC article.
Aplasia cutis congenita in a CDC42-related developmental phenotype.
Schnabel F, Kamphausen SB, Funke R, Kaulfuß S, Wollnik B, Zenker M. Schnabel F, et al. Among authors: kaulfuss s. Am J Med Genet A. 2021 Mar;185(3):850-855. doi: 10.1002/ajmg.a.62009. Epub 2020 Dec 7. Am J Med Genet A. 2021. PMID: 33283961
Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.
Mikaeel RR, Young JP, Li Y, Smith E, Horsnell M, Uylaki W, Tapia Rico G, Poplawski NK, Hardingham JE, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Price TJ. Mikaeel RR, et al. Among authors: kaulfuss s. Genes Chromosomes Cancer. 2022 Feb;61(2):105-113. doi: 10.1002/gcc.23011. Epub 2021 Nov 18. Genes Chromosomes Cancer. 2022. PMID: 34761457
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber MK, Wilken B, Funke R, Neuhofer CM, Altmüller J, Thiele H, Nürnberg P, Biskup S, Li Y, Zimmermann WH, Kaulfuß S, Yigit G, Wollnik B. Schmidt J, et al. Among authors: kaulfuss s. Front Cell Dev Biol. 2022 Nov 16;10:1025332. doi: 10.3389/fcell.2022.1025332. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36467423 Free PMC article.
39 results