Journal Article (372)
21.
Journal Article
2019, 528877 (2019)
Preformed Chromatin Topology Assists Transcriptional Robustness of Shh during Limb Development. bioRxiv (Preprint Server) 22.
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 23.
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 24.
Journal Article
21 (3), pp. 305 - 310 (2019)
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology 25.
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 26.
Journal Article
179 (1), pp. 13 - 19 (2019)
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 27.
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 28.
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 29.
Journal Article
10 (466), eaau7137 (2018)
Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine 30.
Journal Article
20, pp. 1481 - 1482 (2018)
Response to Peron et al. GENETICS IN MEDICINE 31.
Journal Article
103 (5), pp. 512 - 521 (2018)
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International 32.
Journal Article
8 (1), 14611 (2018)
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports 33.
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 34.
Journal Article
50 (10), pp. 1463 - 1473 (2018)
Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 35.
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 36.
Journal Article
113, pp. 29 - 40 (2018)
Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone 37.
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 38.
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 39.
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 40.
Journal Article
19 (7), pp. 453 - 467 (2018)
Structural variation in the 3D genome. Nature Reviews Genetics