A list of publications arising from our work is shown below. If you know of a relevant publication not listed here, please let us know via email.
5 publications
Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variants
Katie E Joyce, Ebun Onabanjo, Sheila Brownlow, et al.
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, et al.
APOE gene testing in FH referrals – the story so far
C. Duff-Farrier, M. Pennock, E.Watson, et al.
Identification of FH-causing variants in patients with clinical familial hypercholesterolaemia recruited into the 100,000 genome project: preliminary analysis
A. Rimbert, M. Futema, M. Williams, et al.
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Gräf S., Haimel M., Bleda M., et al.
