Paul van der Zwaag
Paul van der Zwaag
Resident in Clinical Genetics, University of Groningen, University Medical Center Groningen
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Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of …
PA Van Der Zwaag, IAW Van Rijsingen, A Asimaki, JDH Jongbloed, ...
European journal of heart failure 14 (11), 1199-1207, 2012
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right …
MGPJ Cox, PA van der Zwaag, C van der Werf, JJ van der Smagt, ...
Circulation 123 (23), 2690-2700, 2011
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
PA van der Zwaag, JDH Jongbloed, MP van den Berg, JJ van der Smagt, ...
Human mutation 30 (9), 1278-1283, 2009
Outcome in phospholamban R14del carriers: results of a large multicentre cohort study
IAW van Rijsingen, PA van der Zwaag, JA Groeneweg, EA Nannenberg, ...
Circulation: Cardiovascular Genetics 7 (4), 455-465, 2014
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
WS Kerstjens-Frederikse, IM Van De Laar, YJ Vos, JMA Verhagen, ...
Genetics in Medicine 18 (9), 914-923, 2016
The ARVD/C genetic variants database: 2014 update
E Lazzarini, JDH Jongbloed, K Pilichou, G Thiene, C Basso, H Bikker, ...
Human mutation 36 (4), 403-410, 2015
Recurrent and founder mutations in the Netherlands—phospholamban p. Arg14del mutation causes arrhythmogenic cardiomyopathy
PA Van der Zwaag, IAW Van Rijsingen, R De Ruiter, EA Nannenberg, ...
Netherlands Heart Journal 21 (6), 286-293, 2013
Improving the diagnostic yield of exome-sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
P Deelen, S van Dam, JC Herkert, JM Karjalainen, H Brugge, KM Abbott, ...
Nature communications 10 (1), 1-13, 2019
The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus
H Milting, B Klauke, AH Christensen, J Müsebeck, V Walhorn, ...
European heart journal 36 (14), 872-881, 2015
Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers
JA Groeneweg, PA van der Zwaag, LRAO Nordkamp, H Bikker, ...
The American journal of cardiology 112 (8), 1197-1206, 2013
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
R Almomani, JMA Verhagen, JC Herkert, E Brosens, ...
Journal of the American College of Cardiology 67 (5), 515-525, 2016
Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?
JA Groeneweg, PA van der Zwaag, JDH Jongbloed, MGPJ Cox, ...
Heart Rhythm 10 (4), 548-559, 2013
Prevalence and cardiac phenotype of patients with a phospholamban mutation
IE Hof, JF Van der Heijden, EG Kranias, D Sanoudou, RA De Boer, ...
Netherlands Heart Journal 27 (2), 64-69, 2019
Recurrent and founder mutations in the Netherlands
PA van der Zwaag, MGPJ Cox, C van der Werf, ACP Wiesfeld, ...
Netherlands Heart Journal 18 (12), 583-591, 2010
A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis
HE Olson, N Jean-Marçais, E Yang, D Heron, K Tatton-Brown, ...
The American Journal of Human Genetics 102 (5), 995-1007, 2018
Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa
RP Hobbs, SY Han, PA Van Der Zwaag, MC Bolling, JDH Jongbloed, ...
The Journal of investigative dermatology 130 (11), 2680, 2010
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy
JC Herkert, KM Abbott, E Birnie, MT Meems-Veldhuis, LG Boven, ...
Genetics in Medicine 20 (11), 1374-1386, 2018
Myocardial fibrosis as an early feature in phospholamban p. Arg14del mutation carriers: phenotypic insights from cardiovascular magnetic resonance imaging
WP Te Rijdt, JN Ten Sande, TM Gorter, PA van der Zwaag, ...
European Heart Journal-Cardiovascular Imaging 20 (1), 92-100, 2019
Relevance of titin missense and non-frameshifting insertions/deletions variants in dilated cardiomyopathy
O Akinrinade, T Heliö, RHL Deprez, JDH Jongbloed, LG Boven, ...
Scientific reports 9 (1), 1-9, 2019
An interstitial duplication of chromosome 13q31. 3q32. 1 further delineates the critical region for postaxial polydactyly type A2
PA van der Zwaag, T Dijkhuizen, KBJ Gerssen-Schoorl, AW Colijn, ...
European journal of medical genetics 53 (1), 45-49, 2010
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