Andrew O. M. Wilkie

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The Human Phenotype Ontology (HPO) project, available at, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% of all HPO classes(More)
  • Siru Zhou, Yangli Xie, Junzhou Tang, Junlan Huang, Qizhao Huang, Wei Xu +9 others
  • 2015
Most cartilaginous tumors are formed during skeletal development in locations adjacent to growth plates, suggesting that they arise from disordered endochondral bone growth. Fibroblast growth factor receptor (FGFR)3 signaling plays essential roles in this process; however, the role of FGFR3 in cartilaginous tumorigenesis is not known. In this study, we(More)
  • Jasmine Lim, Geoffrey J. Maher, Gareth D. H. Turner, Wioleta Dudka-Ruszkowska, Stephen Taylor, Ewa Rajpert-De Meyts +2 others
  • 2012
The dominant congenital disorders Apert syndrome, achondroplasia and multiple endocrine neoplasia-caused by specific missense mutations in the FGFR2, FGFR3 and RET proteins respectively-represent classical examples of paternal age-effect mutation, a class that arises at particularly high frequencies in the sperm of older men. Previous analyses of DNA from(More)
  • Maria Voutilainen, Päivi H. Lindfors, Ewelina Trela, Darielle Lönnblad, Vera Shirokova, Teresa Elo +5 others
  • 2015
Mammary gland development commences during embryogenesis with the establishment of a species typical number of mammary primordia on each flank of the embryo. It is thought that mammary cell fate can only be induced along the mammary line, a narrow region of the ventro-lateral skin running from the axilla to the groin. Ectodysplasin (Eda) is a tumor necrosis(More)
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