Kym Alex Michael Dennis David Boycott MacKenzie Brudno Bulman Dyment

Mutations within the spliceosomal gene SNRPB affect its auto‐regulation and are causative for classic cerebro‐costo‐mandibular syndrome

E. Zackai, M. Brudno, K. Boycott, 2015, Clinical genetics.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

M. Brudno, J. Tolmie, D. Sharon, 2015, Nature Communications.

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

E. Zackai, M. Brudno, K. Boycott, 2014, Nature Communications.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

M. Brudno, J. Tolmie, D. Sharon, 2015, Nature Communications.