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Clinical Immunology (Orlando, Fla.)|July 26, 2024
Novel hypermorphic variants in IRF2BP2 identified in patients with common variable immunodeficiency and autoimmunityManfred Anim, Georgios Sogkas, Nadezhda Camacho-Ordonez, et al.
Plos Computational Biology|September 21, 2022
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing lossDamianos P Melidis, Christian Landgraf, Gunnar Schmidt, et al.
American Journal of Medical Genetics. Part A|May 8, 2019
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1AMonika M Golas, Bernd Auber, Tim Ripperger, et al.
Molecular Genetics & Genomic Medicine|November 15, 2019
From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencingJana Lisa van Luttikhuizen, Janin Bublitz, Stephanie Schubert, et al.
American Journal of Medical Genetics. Part A|April 20, 2023
Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disordersJonathan Lukas Lühmann, Gunnar Schmidt, Bernd Auber, et al.
BMC Medical Genomics|October 23, 2023
Comparison of methylation estimates obtained via MinION nanopore sequencing and sanger bisulfite sequencing in the TRPA1 promoter regionSara Gombert, Kirsten Jahn, Hansi Pathak, et al.
Geburtshilfe Und Frauenheilkunde|April 24, 2020
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian CancerBarbara Wappenschmidt, Jan Hauke, Ulrike Faust, et al.
Clinical Neuropathology|April 21, 2022
Sustained response to bevacizumab in a patient with mosaic neurofibromatosis type 2 carrying the <i>NF2</i>:c.784C>T p.(Arg262*) variantElena Basenach, Alisa Förster, Peter Raab, et al.
Frontiers in Immunology|March 7, 2022
Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic FactorsLuzia Bruns, Victoria Panagiota, Sandra von Hardenberg, et al.
Genes, Chromosomes & Cancer|January 24, 2021
Unbalanced translocation der(5;17) resulting in a TP53 loss as recurrent aberration in myelodysplastic syndrome and acute myeloid leukemia with complex karyotypeDaria Warnstorf, Randa Bawadi, Andrea Schienke, et al.
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