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Publications

  1. & Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 136(2), 536-548.
  2. & GLRB is the third major gene of effect in hyperekplexia. Human Molecular Genetics 22(5), 927-940.
  3. & TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Human Molecular Genetics 19(14), 2817-2827.