P. Gissen

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis

M. Girolami, A. Lyne, W. Heywood, 2016, Nature Communications.

Delivering efficient liver-directed AAV-mediated gene therapy

I. Alexander, P. Gissen, S. Waddington, 2017, Gene Therapy.

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome

R. Sougrat, H. Mandel, D. Chitayat, 2009, Human mutation.

Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

M. Simpson, M. Lordkipanidzé, P. Gissen, 2015, Journal of thrombosis and haemostasis : JTH.

Trafficking and transporter disorders in pediatric cholestasis.

P. Gissen, A. Knisely, P. Gissen, 2010, Clinics in liver disease.

Rapid genetic diagnosis of heritable platelet function disorders with next‐generation sequencing: proof‐of‐principle with Hermansky–Pudlak syndrome

S. Mundell, P. Gissen, A. Mumford, 2012, Journal of thrombosis and haemostasis : JTH.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.