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1

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Almomani, Rowida, Verhagen, Judith M.A., Herkert, Johanna C., Brosens, Erwin, van Spaendonck-Zwarts, Karin Y., Asimaki, Angeliki, van der Zwaag, Paul A., Frohn-Mulder, Ingrid M.E., Bertoli-Avella, Aid

Journal:

Journal of the American College of Cardiology

Year:

2016

Language:

english

File:

PDF, 4.15 MB

english, 2016

2

Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy

te Rijdt, Wouter P., Asimaki, Angeliki, Jongbloed, Jan D.H., Hoorntje, Edgar T., Lazzarini, Elisabetta, van der Zwaag, Paul A., de Boer, Rudolf A., Peter van Tintelen, J., Saffitz, Jeffrey E., van den

Journal:

Cardiovascular Pathology

Year:

2018

Language:

english

File:

PDF, 4.33 MB

english, 2018

3

Prognostic significance of changes in prostate-specific markers after endocrine treatment of stage D2 prostatic cancer

Haim Matzkin, Paul Eber, Barbara Todd, Roger van der Zwaag, Mark S. Soloway

Journal:

Year:

1992

Language:

english

File:

PDF, 612 KB

english, 1992

4

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

Paul A. van der Zwaag, Jan D.H. Jongbloed, Maarten P. van den Berg, Jasper J. van der Smagt, Roselie Jongbloed, Hennie Bikker, Robert M.W. Hofstra, J. Peter van Tintelen

Journal:

Year:

2009

Language:

english

File:

PDF, 271 KB

english, 2009

5

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

Hylke M Blauw, Jan H Veldink, Michael A van Es, Paul W van Vught, Christiaan GJ Saris, Bert van der Zwaag, Lude Franke, J Peter H Burbach, John H Wokke, Roel A Ophoff, Leonard H van den Berg

Journal:

The Lancet Neurology

Year:

2008

Language:

english

File:

PDF, 197 KB

english, 2008

6

Letter regarding the article: “R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy” by Valenzise et al.

Paul A. van der Zwaag, Jan D.H. Jongbloed, Maarten P. van den Berg, Marcel F. Jonkman, J. Peter van Tintelen

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 63 KB

english, 2009

7

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2

Paul A. van der Zwaag, Trijnie Dijkhuizen, Klasien B.J. Gerssen-Schoorl, Anja W. Colijn, Paul M.A. Broens, Boudien C.T. Flapper, Conny M.A. van Ravenswaaij-Arts

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 525 KB

english, 2010

8

Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation

van der Smagt, Jasper J., van der Zwaag, Paul A., van Tintelen, J. Peter, Cox, Moniek G.P.J., Wilde, Arthur A.M., van Langen, Irene M., Ummels, Amber, Hennekam, F.A.M., Dooijes, Dennis, Gerbens, Frans

Journal:

Year:

2012

Language:

english

File:

PDF, 327 KB

english, 2012

9

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy According to Revised 2010 Task Force Criteria With Inclusion of Non-Desmosomal Phospholamban Mutation Carriers

Groeneweg, Judith A., van der Zwaag, Paul A., Olde Nordkamp, Louise R.A., Bikker, Hennie, Jongbloed, Jan D.H., Jongbloed, Roselie, Wiesfeld, Ans C.P., Cox, Moniek G.P.J., van der Heijden, Jeroen F., A

Journal:

The American Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 4.15 MB

english, 2013

10

Left-dominant arrhythmogenic cardiomyopathy in a large family: Associated desmosomal or nondesmosomal genotype?

Groeneweg, Judith A., van der Zwaag, Paul A., Jongbloed, Jan D.H., Cox, Moniek G.P.J., Vreeker, Arnold, de Boer, Rudolf A., van der Heijden, Jeroen F., van Veen, Toon A.B., McKenna, William J., van Ti

Journal:

Year:

2013

Language:

english

File:

PDF, 2.19 MB

english, 2013

11

Genotype-Phenotype Analysis in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Follow-Up of a Large Series of Dutch Index-Patients and Family Members

Cox, Moniek G.P.J., van der Zwaag, Paul A., van der Werf, Christian, van der Smagt, Jasper J., Noorman, Maartje, Bhuiyan, Zahir A., Wiesfeld, Ans C.P., Volders, Paul G.A., van Langen, Irene M., Atsma,

Journal:

Year:

2010

Language:

english

File:

PDF, 315 KB

english, 2010

12

Counsel the genotype, treat the phenotype

van der Zwaag, Paul A., van Tintelen, J. Peter

Journal:

European Journal of Heart Failure

Year:

2011

Language:

english

File:

PDF, 71 KB

english, 2011

13

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

van der Zwaag, Paul A., van Rijsingen, Ingrid A.W., Asimaki, Angeliki, Jongbloed, Jan D.H., van Veldhuisen, Dirk J., Wiesfeld, Ans C.P., Cox, Moniek G.P.J., van Lochem, Laura T., de Boer, Rudolf A., H

Journal:

European Journal of Heart Failure

Year:

2012

Language:

english

File:

PDF, 259 KB

english, 2012

14

[IEEE 2014 IEEE Ninth International Conference on Intelligent Sensors, Sensor Networks and Information Processing (ISSNIP) - Singapore (2014.4.21-2014.4.24)] 2014 IEEE Ninth International Conference on Intelligent Sensors, Sensor Networks and Information Processing (ISSNIP) - Energy-efficient on-node signal processing for vibration monitoring

Ramachandran, Vignesh Raja Karuppiah, Sanchez Ramirez, Andrea, van der Zwaag, Berend Jan, Meratnia, Nirvana, Havinga, Paul

Year:

2014

Language:

english

File:

PDF, 908 KB

english, 2014

15

The ARVD/C Genetic Variants Database: 2014 Update

Lazzarini, Elisabetta, Jongbloed, Jan D. H., Pilichou, Kalliopi, Thiene, Gaetano, Basso, Cristina, Bikker, Hennie, Charbon, Bart, Swertz, Morris, van Tintelen, J. Peter, van der Zwaag, Paul A.

Journal:

Year:

2015

Language:

english

File:

PDF, 638 KB

english, 2015

16

INCREMENTAL VALUE OF RIGHT VENTRICULAR ENDOMYOCARDIAL BIOPSY TO THE PHENOTYPING OF PHOSPHOLAMBAN P.ARG14DEL MUTATION-RELATED CARDIOMYOPATHY

Rijdt, Wouter P. te, van der Zwaag, Paul A., de Boer, Rudolf, Van Den Berg, Maarten, van Tintelen, J. Peter, Suurmeijer, Albert J.H.

Journal:

Journal of the American College of Cardiology

Year:

2015

Language:

english

File:

PDF, 243 KB

english, 2015

17

[IEEE 2015 9th International Symposium on Medical Information and Communication Technology (ISMICT) - Kamakura, Japan (2015.3.24-2015.3.26)] 2015 9th International Symposium on Medical Information and Communication Technology (ISMICT) - Implantable body sensor network MAC protocols using wake-up radio — Evaluation in animal tissue

Ramachandran, V. R. K, van der Zwaag, Berend Jan, Meratnia, Nirvana, Havinga, Paul

Year:

2015

Language:

english

File:

PDF, 857 KB

english, 2015

18

Sensor Networks in the Low Lands

Meratnia, Nirvana, van der Zwaag, Berend Jan, van Dijk, Hylke W., Bijwaard, Dennis J.A., Havinga, Paul J.M.

Journal:

Year:

2010

Language:

english

File:

PDF, 3.10 MB

english, 2010

19

Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis Bullosa

Hobbs, Ryan P, Han, Sandra Y, van der Zwaag, Paul A, Bolling, Marieke C, Jongbloed, Jan D H, Jonkman, Marcel F, Getsios, Spiro, Paller, Amy S, Green, Kathleen J

Journal:

The Journal of Investigative Dermatology

Year:

2010

Language:

english

File:

PDF, 1.13 MB

english, 2010

20

Fixation of High-Flexion Total Knee Prostheses: Five-Year Follow-up Results of a Four-Arm Randomized Controlled Clinical and Roentgen Stereophotogrammetric Analysis Study

Nieuwenhuijse, Marc J., van der Voort, Paul, Kaptein, Bart L., van der Linden-van der Zwaag, H.M.J., Valstar, Edward R., Nelissen, Rob G.H.H.

Journal:

The Journal of Bone & Joint Surgery

Year:

2013

Language:

english

File:

PDF, 1.21 MB

english, 2013

21

Evaluation of MAC Protocols with Wake-up Radio for Implantable Body Sensor Networks

Ramachandran, Vignesh raja Karuppiah, Zwaag, Berend Jan van der, Meratnia, Nirvana, Havinga, Paul J.M.

Journal:

Procedia Computer Science

Year:

2014

Language:

english

File:

PDF, 3.32 MB

english, 2014

22

Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families

Kerstjens-Frederikse, Wilhelmina S., van de Laar, Ingrid M.B.H., Vos, Yvonne J., Verhagen, Judith M.A., Berger, Rolf M.F., Lichtenbelt, Klaske D., Klein Wassink-Ruiter, Jolien S., van der Zwaag, Paul

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 587 KB

english, 2016

23

[IEEE 2015 IEEE Innovative Smart Grid Technologies - Asia (ISGT ASIA) - Bangkok, Thailand (2015.11.3-2015.11.6)] 2015 IEEE Innovative Smart Grid Technologies - Asia (ISGT ASIA) - Reducing user discomfort in direct load control of domestic water heaters

Belov, Alexander, Vasenev, Alexandr, Havinga, Paul J.M., Meratnia, Nirvana, van der Zwaag, Berend Jan

Year:

2015

Language:

english

File:

PDF, 807 KB

english, 2015

24

[Society of Petroleum Engineers European Formation Damage Conference - Scheveningen, The Netherlands (2007-05-30)] European Formation Damage Conference - Design and Utilization of Low Solids OBM for Aasgard Reservoir Drilling and Completion

Fossum, Paul Vegard, Moum, Terje Kotsbak, Sletfjerding, Elling, Taugbol, Knut, Brechan, Bjorn, Hogstol, Hakon, Olsen, Per Atle, Fjorden, Jan, Van Der Zwaag, Claas

Language:

english

File:

PDF, 682 KB

english

25

Effect of reverted austenite on tensile and impact strength in a martensitic stainless steel−An in-situ X-ray diffraction study

Wiessner, Manfred, Gamsjäger, Ernst, van der Zwaag, Sybrand, Angerer, Paul

Journal:

Materials Science and Engineering: A

Year:

2016

Language:

english

File:

PDF, 1.06 MB

english, 2016

26

Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy

te Rijdt, Wouter P., van der Klooster, Z. Joy, Hoorntje, Edgar T., Jongbloed, Jan D.H., van der Zwaag, Paul A., Asselbergs, Folkert W., Dooijes, Dennis, de Boer, Rudolf A., van Tintelen, J. Peter, van

Journal:

Cardiovascular Pathology

Year:

2017

Language:

english

File:

PDF, 936 KB

english, 2017

27

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Olson, Heather E., Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Ma

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.18 MB

english, 2018

28

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

Verhagen, Judith M. A., Veldman, Job H., van der Zwaag, Paul A., von der Thüsen, Jan H., Brosens, Erwin, Christiaans, Imke, Dooijes, Dennis, Helderman-van den Enden, Apollonia T. J. M., Lekanne Deprez

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.47 MB

english, 2018

29

EquiMoves: A Wireless Networked Inertial Measurement System for Objective Examination of Horse Gait

Bosch, Stephan, Serra Bragança, Filipe, Marin-Perianu, Mihai, Marin-Perianu, Raluca, van der Zwaag, Berend, Voskamp, John, Back, Willem, van Weeren, René, Havinga, Paul

Journal:

Year:

2018

Language:

english

File:

PDF, 16.85 MB

english, 2018

30

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Olson, Heather E., Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Ma

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 99 KB

english, 2018

31

Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac Diseases

Nannenberg, Eline A., van Rijsingen, Ingrid A.W., van der Zwaag, Paul A., van den Berg, Maarten P., van Tintelen, J. Peter, Tanck, Michael W.T., Ackerman, Michael J., Wilde, Arthur A.M., Christiaans,

Journal:

Circulation: Genomic and Precision Medicine

Year:

2018

Language:

english

File:

PDF, 167 KB

english, 2018

32

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Deelen, Patrick, van Dam, Sipko, Herkert, Johanna C., Karjalainen, Juha M., Brugge, Harm, Abbott, Kristin M., van Diemen, Cleo C., van der Zwaag, Paul A., Gerkes, Erica H., Zonneveld-Huijssoon, Evelie

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 2.01 MB

english, 2019

33

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Deelen, Patrick, van Dam, Sipko, Herkert, Johanna C., Karjalainen, Juha M., Brugge, Harm, Abbott, Kristin M., van Diemen, Cleo C., van der Zwaag, Paul A., Gerkes, Erica H., Zonneveld-Huijssoon, Evelie

Journal:

Nature Communications

Year:

2019

File:

PDF, 2.01 MB

2019

34

Dyssynchronopathy Can be a Manifestation of Heritable Cardiomyopathy

te Rijdt, Wouter P., Hoedemaekers, Yvonne M., Jongbloed, Jan D.H., Damman, Kevin, van der Zwaag, Paul A., de Boer, Rudolf A., Maass, Alexander H., van den Berg, Maarten P.

Journal:

Circulation: Genomic and Precision Medicine

Year:

2019

Language:

english

File:

PDF, 58 KB

english, 2019

35

Coexistence of wild type and hereditary ATTR amyloidosis in one family

Feenstra, Josine G., Nienhuis, Hans L. A., Bijzet, Johan, van der Zwaag, Paul A., van den Berg, Maarten P., Hazenberg, Bouke P. C.

Journal:

Year:

2019

Language:

english

File:

PDF, 1.10 MB

english, 2019

36

Coexistence of wild type and hereditary ATTR amyloidosis in one family

Feenstra, Josine G., Nienhuis, Hans L. A., Bijzet, Johan, van der Zwaag, Paul A., van den Berg, Maarten P., Hazenberg, Bouke P. C.

Journal:

Year:

2019

File:

PDF, 1.10 MB

2019

37

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

Almomani, Rowida, Herkert, Johanna C, Posafalvi, Anna, Post, Jan G, Boven, Ludolf G, van der Zwaag, Paul A, Willems, Peter H G M, van Veen-Hof, Ingrid H, Verhagen, Judith M A, Wessels, Marja W, Nikkel

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 583 KB

2020

38

The phospholambanÂ p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy

Eijgenraam, Tim R., Boukens, Bastiaan J., Boogerd, Cornelis J., Schouten, E. Marloes, van de Kolk, Cees W. A., Stege, Nienke M., te Rijdt, Wouter P., Hoorntje, Edgar T., van der Zwaag, Paul A., van Ro

Journal:

Scientific Reports

Year:

2020

File:

PDF, 7.36 MB

2020

39

Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy

Eijgenraam, Tim R., Boukens, Bastiaan J., Boogerd, Cornelis J., Schouten, E. Marloes, van de Kolk, Cees W. A., Stege, Nienke M., te Rijdt, Wouter P., Hoorntje, Edgar T., van der Zwaag, Paul A., van Ro

Journal:

Scientific Reports

Year:

2020

File:

PDF, 732 KB

2020