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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach2022 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mads Thomassen, Romy L.S. Mesman, Thomas van Overeem Hansen, Mireia Menéndez, Maria Rossing, Ada Esteban‐Sánchez, +43 more
9citations -
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +25 more
6citations -
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias2023 The American Journal of Human Genetics article Neuroscience Genetic Neurodegenerative Diseases Open access
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, +66 more
33citations -
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene2023 European Journal of Human Genetics article Medicine Epilepsy research and treatment Open access
Eleni Panagiotakaki, Francesco Danilo Tiziano, Mohamad A. Mikati, Lisanne S. Vijfhuizen, Sophie Nicole, Gaëtan Lesca, +17 more
9citations -
P171 LiBi-NMD: liquid biopsies in neuromuscular diseases – the underrated value of white blood cells2023 Neuromuscular Disorders conference-abstract Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Andreas Hentschel, Adela Della Marina, H. Köbel, Andrea Gangfuß, Maike Franziska Dohrn, Joachim Weis, +6 more
0citations -
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton’s tyrosine kinase case-study2023 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lucía del Pino Molina, Yolanda Soto Serrano, Keren Reche Yebra, J. Marty Lobo, B. González Martínez, María Bravo García‐Morato, +3 more
4citations -
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy2023 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent
Richard J.L.F. Lemmers, Russell J. Butterfield, Patrick J. van der Vliet, Jan De Bleecker, Ludo van der Pol, Diane Marie Dunn, +17 more
19citations -
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Gisella Figlioli, Amandine Billaud, Thomas U. Ahearn, Natalia Antonenkova, Heiko Becher, Matthias W. Beckmann, +91 more
15citations -
Ultraviolet Mutagenesis Coupled with Next-Generation Sequencing as a Method for Functional Interrogation of Powdery Mildew Genomes2020 Molecular Plant-Microbe Interactions article Agricultural and Biological Sciences Powdery Mildew Fungal Diseases Open access
Mirna Barsoum, Stefan Kusch, Lamprinos Frantzeskakis, Ulrich Schaffrath, Ralph Panstruga
31citations -
Babesia divergens and Babesia microti species-specific genes that may drive pathogenesis2026 Infection Genetics and Evolution article Immunology and Microbiology Vector-borne infectious diseases Open access
Muyideen Kolapo Tijani, Bingyan Wu, Lena Danielsson, Ron P. Dirks, Hans J. Jansen, Hein Sprong, +2 more
1citations -
Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect2021 Channels article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Kim Le Cann, Jannis Meents, Vishal Sudha Bhagavath Eswaran, Maike Franziska Dohrn, Raya Bott, Andrea Maier, +8 more
9citations -
Functional characterization of two DYRK1B variants causative of AOMS32024 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Silvia Detro‐Dassen, Anna R. Sternberg, Katharina Schwandt, Stefan Düsterhöft, Walter B. Becker
2citations