Anne Goriely

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. pmc Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, UK
    Am J Hum Genet 90:175-200. 2012
  2. pmc Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
    Stephen R F Twigg
    Clinical Genetics, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Hum Mol Genet 22:1654-62. 2013
  3. pmc Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 102:6051-6. 2005
  4. pmc Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Am J Med Genet A 152:2067-73. 2010
  5. pmc Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men
    Jasmine Lim
    Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
    PLoS ONE 7:e42382. 2012
  6. ncbi request reprint Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link
    Ruth M S Hansen
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS, UK
    J Pathol 207:27-31. 2005
  7. pmc OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia
    Jasmine Lim
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    J Pathol 224:473-83. 2011
  8. doi request reprint "Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Am J Psychiatry 170:599-608. 2013
  9. pmc Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice
    Christian Babbs
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
    Hum Mutat 32:930-8. 2011
  10. ncbi request reprint Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
    Anne Goriely
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK
    Science 301:643-6. 2003

Collaborators

Detail Information

Publications11

  1. pmc Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, UK
    Am J Hum Genet 90:175-200. 2012
    ....
  2. pmc Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
    Stephen R F Twigg
    Clinical Genetics, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Hum Mol Genet 22:1654-62. 2013
    ....
  3. pmc Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 102:6051-6. 2005
    ..Among FGFR2 mutations, those causing Apert syndrome may be especially prevalent because they enhance signaling by FGF ligands specific for each of the major expressed isoforms...
  4. pmc Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Am J Med Genet A 152:2067-73. 2010
    ..3% in hair roots to 14.1% in blood. Our observation underlines the importance of parental molecular testing for accurate genetic counseling of the risk of recurrence for Crouzon, and other paternal age-effect syndromes...
  5. pmc Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men
    Jasmine Lim
    Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
    PLoS ONE 7:e42382. 2012
    ....
  6. ncbi request reprint Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link
    Ruth M S Hansen
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS, UK
    J Pathol 207:27-31. 2005
    ..This suggests that gain-of-function FGFR2 mutations are not commonly encountered in tumourigenesis and specifically excludes a major contribution in testicular tumours...
  7. pmc OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia
    Jasmine Lim
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    J Pathol 224:473-83. 2011
    ....
  8. doi request reprint "Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders
    Anne Goriely
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Am J Psychiatry 170:599-608. 2013
    ..The authors outline hypotheses to test this model. Given the secular changes for delayed parenthood in most societies, this hypothesis has important public health implications...
  9. pmc Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice
    Christian Babbs
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
    Hum Mutat 32:930-8. 2011
    ....
  10. ncbi request reprint Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
    Anne Goriely
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK
    Science 301:643-6. 2003
    ..We propose that these FGFR2 mutations, although harmful to embryonic development, are paradoxically enriched because they confer a selective advantage to the spermatogonial cells in which they arise...
  11. pmc The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom
    Am J Hum Genet 78:999-1010. 2006
    ..These results highlight the importance of considering possible origins of mutation in the counseling of families with CFNS and provide a generally applicable approach to the combined analysis of mosaic and germline mutations...