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Breast Cancer Research : BCR|August 9, 2018
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredityJudith Penkert, Gunnar Schmidt, Winfried Hofmann, et al.Frontiers in Medicine|December 29, 2025
RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case seriesHannah Glonnegger, Doris Boeckelmann, Rebekka Wiedenhöfer, et al.Frontiers in Oncology|April 26, 2021
Plasma Metabolome Signature Indicative of BRCA1 Germline Status Independent of Cancer IncidenceJudith Penkert, Andre Märtens, Martin Seifert, et al.Haematologica|May 10, 2007
Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle-cell lymphomasTim Ripperger, Nils von Neuhoff, Kathrin Kamphues, et al.Clinical Genetics|July 7, 2020
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopeniaJan Hendrik Niemann, Chen Du, Susanne Morlot, et al.Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|August 1, 2025
Identifying Risk Factors for Metachronous Colorectal Cancer in Lynch SyndromeRobert Hüneburg, Karolin Weber, Stefan Aretz, et al.JNCI Cancer Spectrum|January 28, 2025
Cancer risk in carriers of TP53 germline variants grouped into different functional categoriesLucas John Müntnich, Christina M Dutzmann, Anika Großhennig, et al.Journal of Medical Genetics|November 12, 2018
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancyManon Suerink, Tim Ripperger, Ludwine Messiaen, et al.American Journal of Medical Genetics. Part A|September 12, 2015
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?Karl Hackmann, Andreas Rump, Stefan A Haas, et al.The Lancet Regional Health. Europe|July 21, 2025
Model of care for individuals with rare cancer predisposition syndromes in GermanyValentina Härter, Birte Sänger, Josephine C Gieseke, et al.Pageof 6