Publications
Journal Article (29)
1.
Journal Article
115 (51), pp. 13021 - 13026 (2018)
Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. Proceedings of the National Academy of Sciences of the United States of America 2.
Journal Article
10 (466), eaau7137 (2018)
Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine 3.
Journal Article
20, pp. 1481 - 1482 (2018)
Response to Peron et al. GENETICS IN MEDICINE 4.
Journal Article
103 (5), pp. 512 - 521 (2018)
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International 5.
Journal Article
8 (1), 14611 (2018)
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports 6.
Journal Article
50 (10), pp. 1442 - 1451 (2018)
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics 7.
Journal Article
50 (10), pp. 1463 - 1473 (2018)
Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 8.
Journal Article
176 (9), pp. 2028 - 2033 (2018)
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American Journal of Medical Genetics Part A 9.
Journal Article
113, pp. 29 - 40 (2018)
Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone 10.
Journal Article
2018, 13412 (2018)
The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders. Clinical Genetics: an international journal of genetics in medicine 11.
Journal Article
293 (27), pp. 10810 - 10824 (2018)
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. Journal of Biological Chemistry 12.
Journal Article
29 (7), pp. 1643 - 1651 (2018)
Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2. Osteoporosis International 13.
Journal Article
19 (7), pp. 453 - 467 (2018)
Structural variation in the 3D genome. Nature Reviews Genetics 14.
Journal Article
20 (6), pp. 599 - 607 (2018)
Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE 15.
Journal Article
50 (5), pp. 662 - 667 (2018)
Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics 16.
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 17.
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) 18.
Journal Article
145 (7), dev161208 (2018)
Genome-wide strategies identify downstream target genes of connective tissue-associated transcription factors. Development 19.
Journal Article
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics, pp. 1 - 11 (2018)
20.
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