Skip to main content

3 Result(s)

within Patrick Tarpey Remove this filter Biomedicine Remove this filter Animal Genetics and Genomics Remove this filter

and

  1. Article

    Correction: Corrigendum: Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

    Nat. Genet. 38, 1242–1244 (2006); published online 1 October 2006; corrected after print 6 June 2011 In the version of this article initially published, the author Andrew Bastawrous was omitted from the author...

    Patrick Tarpey, Shery Thomas, Nagini Sarvananthan, Uma Mallya… in Nature Genetics (2011)

    Download PDF (99 KB) View Article

  2. No Access

    Article

    Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

    Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenita...

    Patrick Tarpey, Shery Thomas, Nagini Sarvananthan, Uma Mallya… in Nature Genetics (2006)

  3. No Access

    Article

    A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

    We examined the coding sequence of 518 protein kinases, ∼1.3 Mb of DNA per sample, in 25 breast cancers. In many tumors, we detected no somatic mutations. But a few had numerous somatic mutations with distinct...

    Philip Stephens, Sarah Edkins, Helen Davies, Chris Greenman, Charles Cox… in Nature Genetics (2005)