Publications
Journal Article (16)
1.
Journal Article
9, 19063 (2019) (2019)
Altered microRNA and target gene expression related to Tetralogy of Fallot. Scientific Reports 2.
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 3.
Journal Article
20, 20:227 (2019)
CRUP: a comprehensive framework to predict condition-specific regulatory units. Genome Biology: Biology for the Post-Genomic Era 4.
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 5.
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 6.
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 7.
Journal Article
9, 10730 (2019)
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. Scientific Reports 8.
Journal Article
24 (7), pp. 1027 - 1039 (2019)
Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 9.
Journal Article
74 (6), pp. 1110 - 1122 (2019)
Regulatory Landscaping: How Enhancer-Promoter Communication Is Sculpted in 3D. Molecular Cell 10.
Journal Article
2019, 528877 (2019)
Preformed Chromatin Topology Assists Transcriptional Robustness of Shh during Limb Development. bioRxiv (Preprint Server) 11.
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 12.
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 13.
Journal Article
21 (3), pp. 305 - 310 (2019)
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology 14.
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 15.
Journal Article
179 (1), pp. 13 - 19 (2019)
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 16.
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 Other (2)
17.
Other
Functional dissection of TADs reveals non-essential and instructive roles in regulating gene expression, bioRxiv (Preprint Server) 2019, (2019)
18.
Other
Crowdfunded whole-genome sequencing of the celebrity cat Lil BUB identifies causal mutations for her osteopetrosis and polydactyly, bioRxiv (Preprint Server), (2019)