Journal Article (420)
61.
Journal Article
17 (12), e3000557 (2019)
BMPR2 acts as a gatekeeper to protect endothelial cells from increased TGFβ responses and altered cell mechanics. PLoS Biology 62.
Journal Article
20, 20:227 (2019)
CRUP: a comprehensive framework to predict condition-specific regulatory units. Genome Biology: Biology for the Post-Genomic Era 63.
Journal Article
24 (11), pp. 1748 - 1768 (2019)
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry 64.
Journal Article
51 (8), pp. 1263 - 1271 (2019)
Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics 65.
Journal Article
40 (8), pp. 1057 - 1062 (2019)
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. Human Mutation 66.
Journal Article
9, 10730 (2019)
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. Scientific Reports 67.
Journal Article
24 (7), pp. 1027 - 1039 (2019)
Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 68.
Journal Article
74 (6), pp. 1110 - 1122 (2019)
Regulatory Landscaping: How Enhancer-Promoter Communication Is Sculpted in 3D. Molecular Cell 69.
Journal Article
2019, 528877 (2019)
Preformed Chromatin Topology Assists Transcriptional Robustness of Shh during Limb Development. bioRxiv (Preprint Server) 70.
Journal Article
2019, pp. 1 - 16 (2019)
Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation 71.
Journal Article
12, 12:60 (2019)
Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability. Frontiers in Molecular Neuroscience 72.
Journal Article
21 (3), pp. 305 - 310 (2019)
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology 73.
Journal Article
28 (4), pp. 598 - 614 (2019)
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human Molecular Genetics 74.
Journal Article
179 (1), pp. 13 - 19 (2019)
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 75.
Journal Article
95 (1), pp. 151 - 159 (2019)
Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 76.
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 77.
Journal Article
10 (466), eaau7137 (2018)
Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine 78.
Journal Article
20, pp. 1481 - 1482 (2018)
Response to Peron et al. GENETICS IN MEDICINE 79.
Journal Article
103 (5), pp. 512 - 521 (2018)
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International 80.
Journal Article
8 (1), 14611 (2018)
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports