J. Cogan

AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year

S. Nelson, E. Ashley, M. Wheeler, 2021, medRxiv.

Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females

F. Parl, J. Cogan, J. Cogan, 2009, European Respiratory Journal.

Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re‐initiation: implications for treating pulmonary hypertension

J. Cogan, E. Austin, L. Hedges, 2010, Clinical genetics.

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

D. Roden, J. Meiler, R. Macdonald, 2022, medRxiv.