Publications
Journal Article (21)
1.
Journal Article
390 (2), pp. 211 - 216 (2009)
The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling. Biochemical and Biophysical Research Communications 2.
Journal Article
5 (11), p. e1000747 - e1000747 (2009)
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. PLoS Genetics 3.
Journal Article
High-throughput sequencing of microdissected chromosomal regions. European Journal of Human Genetics, ejhg.2009.196, pp. 1 - 6 (2009)
4.
Journal Article
18 (21), pp. 4013 - 4021 (2009)
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. Human Molecular Genetics 5.
Journal Article
149A (10), pp. 2327 - 2338 (2009)
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. American Journal of Medical Genetics Part A 6.
Journal Article
85 (4), pp. 457 - 464 (2009)
Clinical Diagnostics with Semantic Similarity Searches in Ontologies. The American Journal of Human Genetics 7.
Journal Article
1792, pp. 903 - 914 (2009)
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochimica et Biophysica Acta - Molecular Basis of Disease 8.
Journal Article
40 (9), pp. 1065 - 1067 (2009)
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics 9.
Journal Article
41, pp. 1016 - 1021 (2009)
Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics 10.
Journal Article
94 (5), pp. 308 - 316 (2009)
Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts. Genomics 11.
Journal Article
41 (8), pp. 862 - 863 (2009)
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nature Genetics 12.
Journal Article
24 (7), pp. 1247 - 1262 (2009)
Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. Journal of Bone and Mineral Research 13.
Journal Article
94 (7), pp. 2658 - 2664 (2009)
Expanded clinical spectrum in hepatocyte nuclear factor 1B-maturity-onset diabetes of the young. Journal of Clinical Endocrinology & Metabolism 14.
Journal Article
18 (12), pp. 2149 - 2165 (2009)
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics 15.
Journal Article
15, pp. 674 - 681 (2009)
Impaired gastric acidification negatively affects calcium homeostasis and bone mass. Nature Medicine 16.
Journal Article
5, p. e1000487 - e1000487 (2009)
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 17.
Journal Article
45 (5-6), pp. 252 - 263 (2009)
PBX1 is dispensable for neural commitment of RA-treated murine ES cells. In Vitro Cellular & Developmental Biology - Animal 18.
Journal Article
50 (5), pp. 816 - 828 (2009)
The Spt-Ada-Gcn5-acetyltransferase complex interaction motif of E2a is essential for a subset of transcriptional and oncogenic properties of E2a-Pbx1. Leukemia & Lymphoma 19.
Journal Article
458 (7242), pp. 1196 - 1200 (2009)
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. Nature 20.
Journal Article
9 (4), pp. 215 - 223 (2009)
Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. Gene Expression Patterns