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Blood Advances|January 13, 2022
Validation and clinical application of transactivation assays for RUNX1 variant classificationMelanie Decker, Anupriya Agarwal, Andreas Benneche, et al.
European Journal of Medical Genetics|February 12, 2023
European standard clinical practice - Key issues for the medical care of individuals with familial leukemiaAlisa Förster, Claudia Davenport, Nicolas Duployez, et al.
Familial Cancer|September 5, 2020
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working GroupSimone Hettmer, Guillaume Dachy, Guido Seitz, et al.
British Journal of Haematology|May 9, 2025
Genomic variant profiling in blast-phase paediatric chronic myeloid leukaemia: Predisposing and driving alterationsYvonne Lisa Behrens, Thea Reinkens, Winfried Hofmann, et al.
Breast Care (Basel, Switzerland)|June 1, 2023
Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast CancerKerstin Rhiem, Silke Zachariae, Anke Waha, et al.
Cell Stem Cell|April 24, 2021
iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropeniaBenjamin Dannenmann, Maksim Klimiankou, Benedikt Oswald, et al.
Blood|February 17, 2017
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptomsBianca Tesi, Josef Davidsson, Matthias Voss, et al.
Familial Cancer|May 5, 2025
Colonoscopy findings in CDH1 carriers from a multicenter international studyArjun Chatterjee, Robert Hüneburg, Qijun Yang, et al.
Journal of Medical Genetics|September 9, 2019
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriersMaribel González-Acosta, Fátima Marín, Benjamin Puliafito, et al.
Human Mutation|February 12, 2019
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytesRichard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, et al.
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