Journal Article (452)
41.
Journal Article
150 (3), Article dev201228 (2023)
Single-cell RNA-based phenotyping reveals a pivotal role of thyroid hormone receptor alpha for hypothalamic development. Development 42.
Journal Article
150 (17), dev201562 (2023)
Induction of kidney-related gene programs through co-option of SALL1 in mole ovotestes. Development 43.
Journal Article
10 (12), 3148 (2022)
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines 44.
Journal Article
13 (1), 6570 (2022)
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications 45.
Journal Article
191 (1), 107, pp. 100 (2022)
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. American Journal of Medical Genetics Part A 46.
Journal Article
13 (1), 6470 (2022)
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature Communications 47.
Journal Article
Co-option of the transcription factor SALL1 in mole ovotestis formation. bioRxiv, 514220 (2022)
48.
Journal Article
185 (20), pp. 3689 - 3704 (2022)
Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell 49.
Journal Article
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 50.
Journal Article
24 (10), pp. 2187 - 2193 (2022)
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. GENETICS IN MEDICINE 51.
Journal Article
38, pp. 3871 - 3876 (2022)
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise. Bioinformatics 52.
Journal Article
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 53.
Journal Article
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 54.
Journal Article
107 (7), pp. e3048 - e3057 (2022)
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. Journal of Clinical Endocrinology and Metabolism 55.
Journal Article
Long-read RNA Sequencing Improves the Annotation of the Equine Transcriptome. bioRxiv, 495038 (2022)
56.
Journal Article
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 57.
Journal Article
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 58.
Journal Article
23 (1), 67 (2022)
TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs. Genome Biology 59.
Journal Article
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 60.
Journal Article
145 (3), pp. 964 - 978 (2022)
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state. Brain