Journal Article (452)
Journal Article
20 (6), pp. 599 - 607 (2018)
Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE
Journal Article
50 (5), pp. 662 - 667 (2018)
Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics
Journal Article
41 (3), pp. 533 - 539 (2018)
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. Journal of Inherited Metabolic Disease
Journal Article
46 (6), pp. 2868 - 2882 (2018)
Genomic dissection of enhancers uncovers principles of combinatorial regulation and dynamic wiring of enhancer-promoter contacts. Nucleic Acids Research (London)
Journal Article
145 (7), dev161208 (2018)
Genome-wide strategies identify downstream target genes of connective tissue-associated transcription factors. Development
Journal Article
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics, pp. 1 - 11 (2018)
Journal Article
176 (3), pp. 668 - 675 (2018)
Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1. American Journal of Medical Genetics Part A
Journal Article
9 (1), 9:10 (2018)
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells. Biology of Sex Differences
Journal Article
27 (4), pp. 589 - 600 (2018)
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. Human Molecular Genetics
Journal Article
23 (2), pp. 222 - 230 (2018)
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry
Journal Article
7 (1), bio.028498 (2018)
A dual transcript-discovery approach to improve the delimitation of gene features from RNA-seq data in the chicken model. Biology Open
Journal Article
10 (1), 10(1):3 (2018)
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine
Journal Article
14 (3), e1007242 (2018)
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. PLoS Genetics
Journal Article
13 (6), e0198510 (2018)
Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation. PLoS One
Journal Article
77 (Suppl.1), pp. S12 - S15 (2018)
Osteoimmunologie – IMMUNOBONE: Regulation des Knochens durch Entzündung. Zeitschrift für Rheumatologie
Journal Article
29 (1), pp. 243 - 246 (2018)
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporosis International
Journal Article
3 (6), e200 (2017)
CDKL5 variants: Improving our understanding of a rare neurologic disorder. Neurology Genetics
Journal Article
101 (5), pp. 833 - 843 (2017)
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics
Journal Article
140 (11), pp. 2879 - 2894 (2017)
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain
Journal Article
54 (11), pp. 754 - 761 (2017)
Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction. Journal of Medical Genetics