Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the <i>TMCO1</i> and <i>PRKRA</i> genes.

Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes.

Molloy, B; Jones, E R; Linhares, N D; Buckley, P G; Leahy, T R; Lynch, B; Knerr, I; King, M D; Gorman, K M.

Afiliação

Molloy B; Genuity Science, Dublin, Ireland.
Jones ER; Genuity Science, Dublin, Ireland.
Linhares ND; Genuity Science, Dublin, Ireland.
Buckley PG; Genuity Science, Dublin, Ireland.
Leahy TR; Department of Paediatric Immunology, Children's Health Ireland at Crumlin, Dublin, Ireland.
Lynch B; Department of Paediatrics, Trinity College, University of Dublin, Dublin, Ireland.
Knerr I; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
King MD; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
Gorman KM; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.