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Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants2021 Kidney International article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Kathrin Burgmaier, Leonie Violetta Brinker, Florian Erger, Bodo Bernhard Beck, Marcus R. Benz, Carsten Bergmann, +91 more
93citations -
Alpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder2021 Journal of Hepatology article Pharmacology, Toxicology and Pharmaceutics Drug-Induced Hepatotoxicity and Protection
Malin Fromme, Carolin Victoria Schneider, Christian Trautwein, Nicola Brunetti‐Pierri, Pavel Strnad
89citations -
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +27 more
82citations -
Sequential implementation of DSC-MR perfusion and dynamic [18F]FET PET allows efficient differentiation of glioma progression from treatment-related changes2020 European Journal of Nuclear Medicine and Molecular Imaging article Medicine Glioma Diagnosis and Treatment Open access
Eike Steidl, Karl‐Josef Langen, Sarah Abu Hmeidan, Nenad Polomac, Christian Filß, Norbert Galldiks, +8 more
57citations -
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +93 more
56citations -
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Jacob R. Stolz, Kendall M. Foote, Hermine E. Veenstra‐Knol, Rolph Pfundt, Sanne W. ten Broeke, Nicole de Leeuw, +32 more
53citations -
Dealing with transcription-blocking DNA damage: Repair mechanisms, RNA polymerase II processing and human disorders2021 DNA repair article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Nan Jia, Chaowan Guo, Yuka Nakazawa, Diana van den Heuvel, Martijn S. Luijsterburg, Tomoo Ogi
51citations -
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency2021 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Linlin Yang, Claire Booth, Carsten Speckmann, Markus G. Seidel, Austen J. J. Worth, Gerhard Kindle, +22 more
39citations -
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas2020 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dara Tolchin, J. Paige Yeager, Naghmeh Dorrani, Alvaro Serrano Russi, Julián A. Martínez-Agosto, Abdul Haseeb, +84 more
37citations -
Genomic and phenomic insights from an atlas of genetic effects on DNA methylation2020 medRxiv preprint Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Josine L. Min, Gibran Hemani, Eilis J. Hannon, Koen F. Dekkers, Juan Castillo Fernandez, René Luijk, +92 more
36citations -
RNA-based therapies in inherited retinal diseases2022 Therapeutic Advances in Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent
Aniz Girach, Isabelle S. Audo, David G. Birch, Rachel M. Huckfeldt, Byron L. Lam, Bart Peter Leroy, +6 more
36citations