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Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell 22.
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24 (9), pp. 1927 - 1940 (2022)
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. GENETICS IN MEDICINE 23.
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Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. GENETICS IN MEDICINE, S1098-3600(22)00849-8 (2022)
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38, pp. 3871 - 3876 (2022)
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise. Bioinformatics 25.
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23, 564 (2022)
Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs. BMC Genomics 26.
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35 (1), ivac159 (2022)
Different ascending aortic phenotypes with similar mutations in two patients with Loeys-Dietz-Syndrome type 2. Interactive CardioVascular and Thoracic Surgery 27.
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107 (7), pp. e3048 - e3057 (2022)
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. Journal of Clinical Endocrinology and Metabolism 28.
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Long-read RNA Sequencing Improves the Annotation of the Equine Transcriptome. bioRxiv, 495038 (2022)
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2022, 14 (2022)
Cell adhesion and immune response, two main functions altered in the transcriptome of seasonally regressed testes of two mammalian species. Journal of Experimental Zoology Part B-Molecular and Developmental Evolution 30.
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23 (8), 4369 (2022)
3D Visualization of Human Blood Vascular Networks Using Single-Domain Antibodies Directed against Endothelial Cell-Selective Adhesion Molecule (ESAM). International Journal of Molecular Sciences 31.
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23, 67 (2022)
TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs. Genome Biology 32.
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15 (3), pp. 421 - 433 (2022)
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. Autism Research 33.
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145 (3), pp. 964 - 978 (2022)
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state. Brain 34.
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67, pp. 405 - 410 (2022)
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of Human Genetics 35.
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5 (1), 2 (2022)
Electron microscopy analysis of ATP-independent nucleosome unfolding by FACT. Communications Biology 36.
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82 (1), pp. 190 - 208 (2022)
Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus. Molecular Cell 37.
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82 (1), e17, pp. 190 - 208 (2022)
Distal and proximal cis-regulatory elements sense X-chromosomal dosage and developmental state at the Xist locus. Molecular Cell 38.
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9 (12), (12):2617 (2021)
Virological and Parasitological Characterization of Mini-LEWE Minipigs Using Improved Screening Methods and an Overview of Data on Various Minipig Breeds. Microorganisms 39.
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600, pp. 731 - 736 (2021)
ecDNA hubs drive cooperative intermolecular oncogene expression. Nature 40.
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140, pp. 1459 - 1469 (2021)
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics