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Clinical Immunology (Orlando, Fla.)|November 5, 2019
A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasiaGeorgios Sogkas, Ignatius R Adriawan, Felix C Ringshausen, et al.
NPJ Breast Cancer|June 30, 2026
Multi-omics analysis in suspected hereditary breast and ovarian cancer cases reveals novel candidate susceptibility factorsB Aldrige Allister, Winfried Hofmann, Jonathan L Lühmann, et al.
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.
International Journal of Molecular Sciences|May 14, 2022
MicroRNA-449a Inhibits Triple Negative Breast Cancer by Disturbing DNA Repair and Chromatid SeparationBeate Vajen, Rahul Bhowmick, Luisa Greiwe, et al.
Human Mutation|April 14, 2025
A Novel <i>Alu</i> Element Insertion in <i>ATM</i> Induces Exon Skipping in Suspected HBOC PatientsJanin Klein, Aldrige B Allister, Gunnar Schmidt, 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.
Genes|January 21, 2022
Heterozygous <i>DHTKD1</i> Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis PatientsAlma Osmanovic, Isabel Gogol, Helge Martens, et al.
International Journal of Cancer|November 15, 2018
The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variantsStephanie Schubert, Jana L van Luttikhuizen, Bernd Auber, et al.
Pediatric Pulmonology|August 10, 2023
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected childrenKatharina Schütz, Axel Schmidt, Nicolaus Schwerk, et al.
Frontiers in Immunology|October 24, 2022
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported casesRensheng Wan, Johannes Fänder, Ia Zakaraia, et al.
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