B. Mullaney

Managing uncertainty in inherited cardiac pathologies—an international multidisciplinary survey

D. Barton, S. Lynch, T. McVeigh, 2019, European Journal of Human Genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

Jonathan E. Dickerson, S. Bhaskar, G. Hall, 2012, Journal of Medical Genetics.

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

P. Tarpey, D. Baralle, J. Tolmie, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Managing uncertainty in inherited cardiac pathologies—an international multidisciplinary survey

D. Barton, S. Lynch, T. McVeigh, 2019, European Journal of Human Genetics.

Heterogeneity in the half-life of factor VIII concentrate in patients with hemophilia A is due to variability in the clearance of endogenous von Willebrand factor.

J. Johnsen, P. Fallon, J. Di Paola, 2023, Journal of thrombosis and haemostasis : JTH.

Management of a patient with acute myeloid leukaemia with a diagnosis of type 2 von Willebrand disease and a novel variant within the von Willebrand factor (VWF) gene

N. Orfali, V. Mykytiv, K. Ryan, 2022, British journal of haematology.