Now showing items 1-2 of 2

    • CanVar: A resource for sharing germline variation in cancer patients. 

      Chubb, D; Broderick, P; Dobbins, SE; Houlston, RS (2016)
      The advent of high-throughput sequencing has accelerated our ability to discover genes predisposing to disease and is transforming clinical genomic sequencing. In both contexts knowledge of the spectrum and frequency of ...
    • Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 

      Tatton-Brown, K; Loveday, C; Yost, S; Clarke, M; Ramsay, E; Zachariou, A; Elliott, A; Wylie, H; Ardissone, A; Rittinger, O; Stewart, F; Temple, IK; Cole, T; Childhood Overgrowth Collaboration; Mahamdallie, S; Seal, S; Ruark, E; Rahman, N (2017-05-04)
      To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) ...