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University Medical Center Groningen

dr. P.A. (Paul) van der Zwaag

Clinical geneticist
Profile picture of dr. P.A. (Paul) van der Zwaag
E-mail:
p.a.van.der.zwaag umcg.nl

Publications

Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant

Age-related penetrance of phospholamban p.Arg14del cardiomyopathy

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy

Detecting early cardiomyopathy in transthyretin variant carriers: reappraising the diagnostic value of Perugini grade 1 radiotracer uptake on bone scintigraphy

Multigene panel analysis has limited additional value compared to transthyretin gene analysis in Dutch patients with suspected cardiac amyloidosis

Cardiac [99mTc]Tc-hydroxydiphosphonate uptake on bone scintigraphy in patients with hereditary transthyretin amyloidosis: an early follow-up marker?: an early follow-up marker?

ECG-only Explainable Deep Learning Algorithm Predicts the Risk for Malignant Ventricular Arrhythmia in Phospholamban Cardiomyopathy

High-Sensitivity Cardiac Troponin T to Exclude Cardiac Involvement in TTR Variant Carriers and ATTRv Amyloidosis Patients

Longitudinal analysis of serum neurofilament light chain levels as marker for neuronal damage in hereditary transthyretin amyloidosis

Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study

Press/media

Raphael (16) uit Leeuwarden is drager van het PLN-gen: ‘Ik kan ziek worden, maar het hoeft niet’

Kwart miljoen opgehaald voor onderzoek naar Friese ziekte: 'Het ontwricht hele families'

Gaspedaal van het hart