A. O'Hara

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

D. Barnes, Y. Crow, W. Newman, 2007, American journal of human genetics.

Growing up with spinal muscular atrophy with respiratory distress (SMARD1)

M. Kirkpatrick, C. Longman, R. Mcwilliam, 2015, Neuromuscular Disorders.