Now showing items 1-2 of 2

    • Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. 

      Yost, S; de Wolf, B; Hanks, S; Zachariou, A; Marcozzi, C; Clarke, M; de Voer, R; Etemad, B; Uijttewaal, E; Ramsay, E; Wylie, H; Elliott, A; Picton, S; Smith, A; Smithson, S; Seal, S; Ruark, E; Houge, G; Pines, J; Kops, GJPL; Rahman, N (2017-07)
      Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, ...
    • 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)
      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) ...