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Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
Published in:
2022
By:
- Picard, Jean-Yves;
- Morin, Gilles;
- Devouassoux-Shisheboran, Mojgan;
- Smagt, Jasper Van der;
- Klosowski, Serge;
- Pienkowski, Catherine;
- Pierre-Renoult, Peggy;
- Masson, Cécile;
- Bole, Christine;
- Josso, Nathalie;
- Van der Smagt, Jasper
Publication type:
journal article
Genetic testing in interstitial lung disease: An international survey.
Published in:
Respirology, 2022, v. 27, n. 9, p. 747, doi. 10.1111/resp.14303
By:
- Terwiel, Michelle;
- Borie, Raphael;
- Crestani, Bruno;
- Galvin, Liam;
- Bonella, Francesco;
- Fabre, Aurelie;
- Froidure, Antoine;
- Griese, Matthias;
- Grutters, Jan C.;
- Johannson, Kerri;
- Kannengiesser, Caroline;
- Kawano‐Dourado, Leticia;
- Molina‐Molina, Maria;
- Prasse, Antje;
- Renzoni, Elisabetta A.;
- van der Smagt, Jasper;
- Poletti, Venerino;
- Antoniou, Katerina;
- van Moorsel, Coline H. M.
Publication type:
Article
Pulmonary fibrosis in non‐mutation carriers of families with short telomere syndrome gene mutations.
Published in:
Respirology, 2021, v. 26, n. 12, p. 1160, doi. 10.1111/resp.14145
By:
- van der Vis, Joanne J.;
- van der Smagt, Jasper J.;
- van Batenburg, Aernoud A.;
- Goldschmeding, Roel;
- van Es, H. Wouter;
- Grutters, Jan C.;
- van Moorsel, Coline H. M.
Publication type:
Article
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63445
By:
- Sewani, Soha;
- Azamian, Mahshid S.;
- Mendelsohn, Bryce A.;
- Mau‐Them, Frederic Tran;
- Réda, Manon;
- Nambot, Sophie;
- Isidor, Bertrand;
- van der Smagt, Jasper J.;
- Shen, Joseph J.;
- Shillington, Amelle;
- White, Lori;
- Elloumi, Houda Zghal;
- Baker, Peter R.;
- Svihovec, Shayna;
- Brown, Kathleen;
- Koopman‐Keemink, Yvonne;
- Hoffer, Mariette J. V.;
- Lakeman, Inge M. M.;
- Brischoux‐Boucher, Elise;
- Kinali, Maria
Publication type:
Article
Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 519, doi. 10.1002/ajmg.a.38033
By:
- Baas, Annette F.;
- Spiering, Wilko;
- Moll, Frans L.;
- Page‐Christiaens, Lieve;
- Beenakkers, Ingrid C. M.;
- Dooijes, Dennis;
- Vonken, Evert‐Jan P. A.;
- van der Smagt, Jasper J.;
- Knoers, Nine V.;
- Koenen, Steven V.;
- van Herwaarden, Joost A.;
- Sieswerda, Gertjan Tj.
Publication type:
Article
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
Published in:
Nature Genetics, 2004, v. 36, n. 4, p. 411, doi. 10.1038/ng1321
By:
- Ng, David;
- Thakker, Nalin;
- Corcoran, Connie M.;
- Donnai, Dian;
- Perveen, Rahat;
- Schneider, Adele;
- Hadley, Donald W.;
- Tifft, Cynthia;
- Zhang, Liqun;
- Wilkie, Andrew O. M.;
- van der Smagt, Jasper J.;
- Gorlin, Robert J.;
- Burgess, Shawn M.;
- Bardwell, Vivian J.;
- Black, Graeme C. M.;
- Biesecker, Leslie G.
Publication type:
Article
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
Published in:
Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0148-0
By:
- McKie, Arthur;
- Alsaedi, Atif;
- Vogt, Julie;
- Stuurman, Kyra;
- Weiss, Marjan;
- Shakeel, Hassan;
- Tee, Louise;
- Morgan, Neil;
- Nikkels, Peter;
- van Haaften, Gijs;
- Park, Soo-Mi;
- van der Smagt, Jasper;
- Bugiani, Marianna;
- Maher, Eamonn
Publication type:
Article
Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation.
Published in:
Cardiology, 2012, v. 123, n. 3, p. 181, doi. 10.1159/000342717
By:
- van der Smagt, Jasper J.;
- van der Zwaag, Paul A.;
- van Tintelen, J. Peter;
- PJ. Cox, Moniek G.;
- M. Wilde, Arthur A.;
- van Langen, Irene M.;
- Ummels, Amber;
- Hennekam, F.A.M.;
- Dooijes, Dennis;
- Gerbens, Frans;
- Bikker, Hennie;
- Hauer, Richard N. W;
- Doevendans, Pieter A.
Publication type:
Article
Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation.
Published in:
Cardiology, 2012, v. 123, n. 3, p. 181, doi. 10.1159/000342717
By:
- 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;
- Bikker, Hennie;
- Hauer, Richard N.W.;
- Doevendans, Pieter A.
Publication type:
Article
Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 392, doi. 10.1007/s004390000268
By:
- Bezrookove, Vladimir;
- Hansson, Kerstin;
- van der Burg, Marja;
- van der Smagt, Jasper J.;
- Hilhorst-Hofstee, Yvonne;
- Wiegant, Joop;
- Beverstock, Geoff C.;
- Raap, Anton K.;
- Tanke, Hans;
- Breuning, Martijn H.;
- Rosenberg, Carla
Publication type:
Article
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 487, doi. 10.1038/ejhg.2012.206
By:
- Harakalova, Magdalena;
- van der Smagt, Jasper;
- de Kovel, Carolien G F;
- van't Slot, Ruben;
- Poot, Martin;
- Nijman, Isaac J;
- Medic, Jelena;
- Joziasse, Irene;
- Deckers, Jaap;
- Roos-Hesselink, Jolien W;
- Wessels, Marja W;
- Baars, Hubert F;
- Weiss, Marjan M;
- Pals, Gerard;
- Golmard, Lisa;
- Jeunemaitre, Xavier;
- Lindhout, Dick;
- Cuppen, Edwin;
- Baas, Annette F
Publication type:
Article
Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 1, p. 129, doi. 10.1038/ejhg.2008.168
By:
- Engbers, Hannelie;
- van der Smagt, Jasper J;
- van ‘t Slot, Ruben;
- Vermeesch, Joris R.;
- Hochstenbach, Ron;
- Poot, Martin
Publication type:
Article
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.
Published in:
European Heart Journal, 2011, v. 32, n. 9, p. 1161, doi. 10.1093/eurheartj/ehr092
By:
- Christiaans, Imke;
- Birnie, Erwin;
- Bonsel, Gouke J.;
- Mannens, Marcel M.A.M.;
- Michels, Michelle;
- Majoor-Krakauer, Daniëlle;
- Dooijes, Dennis;
- van Tintelen, J. Peter;
- van den Berg, Maarten P.;
- Volders, Paul G.A.;
- Arens, Yvonne H.;
- van den Wijngaard, Arthur;
- Atsma, Douwe E.;
- Helderman-van den Enden, Apollonia T.J.M.;
- Houweling, Arjan C.;
- de Boer, Karin;
- van der Smagt, Jasper J.;
- Hauer, Richard N.W.;
- Marcelis, Carlo L.M.;
- Timmermans, Janneke
Publication type:
Article
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Published in:
2018
By:
- Hoorntje, Edgar T.;
- van Spaendonck‐Zwarts, Karin Y.;
- te Rijdt, Wouter P.;
- Boven, Ludolf;
- Vink, Aryan;
- van der Smagt, Jasper J.;
- Asselbergs, Folkert W.;
- van Wijngaarden, Jan;
- Hennekam, Eric A.;
- Pinto, Yigal M.;
- Lekanne Deprez, Ronald H.;
- Barge‐Schaapveld, Daniela Q. C. M.;
- Bootsma, Marianne;
- Regieli, Jakub;
- Hoedemaekers, Yvonne M.;
- Jongbloed, Jan D. H.;
- van den Berg, Maarten P.;
- van Tintelen, J. Peter;
- van Spaendonck-Zwarts, Karin Y;
- Barge-Schaapveld, Daniela Q C M
Publication type:
Letter
A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes.
Published in:
European Journal of Heart Failure, 2015, v. 17, n. 5, p. 484, doi. 10.1002/ejhf.255
By:
- Harakalova, Magdalena;
- Kummeling, Gijs;
- Sammani, Arjan;
- Linschoten, Marijke;
- Baas, Annette F.;
- van der Smagt, Jasper;
- Doevendans, Pieter A.;
- van Tintelen, J. Peter;
- Dooijes, Dennis;
- Mokry, Michal;
- Asselbergs, Folkert W.
Publication type:
Article
Systematic review of pregnancy in women with inherited cardiomyopathies.
Published in:
European Journal of Heart Failure, 2011, v. 13, n. 6, p. 584, doi. 10.1093/eurjhf/hfr040
By:
- Krul, Sébastien P.J.;
- van der Smagt, Jasper J.;
- van den Berg, Maarten P.;
- Sollie, Krystyna M.;
- Pieper, Petronella G.;
- van Spaendonck-Zwarts, Karin Y.
Publication type:
Article
Familial occurrence of isolated non-compaction cardiomyopathy
Published in:
European Journal of Heart Failure, 2006, v. 8, n. 8, p. 826, doi. 10.1016/j.ejheart.2006.02.014
By:
- Lorsheyd, Anouk;
- Cramer, Maarten-Jan M.;
- Velthuis, Birgitta K.;
- Vonken, Evert-Jan P.;
- van der Smagt, Jasper;
- van Tintelen, Peter;
- Hauer, Richard N.W.
Publication type:
Article
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 7, p. 1072, doi. 10.1093/hmg/ddac261
By:
- Copier, Jaël S;
- Bootsma, Marianne;
- Ng, Chai A;
- Wilde, Arthur A M;
- Bertels, Robin A;
- Bikker, Hennie;
- Christiaans, Imke;
- Crabben, Saskia N van der;
- Hol, Janna A;
- Koopmann, Tamara T;
- Knijnenburg, Jeroen;
- Lommerse, Aafke A J;
- Smagt, Jasper J van der;
- Bezzina, Connie R;
- Vandenberg, Jamie I;
- Verkerk, Arie O;
- Barge-Schaapveld, Daniela Q C M;
- Lodder, Elisabeth M
Publication type:
Article
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Published in:
2018
By:
- Mitter, Diana;
- Lemke, Johannes R.;
- Platzer, Konrad;
- Jamra, Rami;
- Ploos van Amstel, Hans K.;
- van der Smagt, Jasper J.;
- Stegmann, Alexander P. A.;
- Stumpel, Constance T. R. M.;
- Stevens, Servi J. C.;
- Oberndorff, Katrin;
- Marcelis, Carlo L.;
- Cogné, Benjamin;
- Vincent, Marie;
- Simonic, Ingrid;
- Hague, Jennifer;
- Park, Soo‐Mi;
- Park, Soo-Mi
Publication type:
journal article
Mutation update for the PORCN gene.
Published in:
Human Mutation, 2011, v. 32, n. 7, p. 723, doi. 10.1002/humu.21505
By:
- Lombardi, Maria Paola;
- Bulk, Saskia;
- Celli, Jacopo;
- Lampe, Anne;
- Gabbett, Michael T.;
- Ousager, Lillian Bomme;
- van der Smagt, Jasper J.;
- Soller, Maria;
- Stattin, Eva-Lena;
- Mannens, Marcel A.M.M.;
- Smigiel, Robert;
- Hennekam, Raoul C.
Publication type:
Article
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Published in:
Human Mutation, 2011, v. 32, n. 2, p. E2018, doi. 10.1002/humu.21416
By:
- Paulussen, Aimée D. C.;
- Stegmann, Alexander P. A.;
- Blok, Marinus J.;
- Tserpelis, Demis;
- Posma-Velter, Crool;
- Detisch, Yvonne;
- Smeets, Eric E. J. G. L.;
- Wagemans, Annemieke;
- Schrander, Jaap J. P.;
- van den Boogaard, Marie-José H.;
- van der Smagt, Jasper;
- van Haeringen, Arie;
- Stolte-Dijkstra, Irene;
- Kerstjens-Frederikse, Wilhelmina S.;
- Mancini, Grazia M.;
- Wessels, Marja W.;
- Hennekam, Raoul C. M.;
- Vreeburg, Maaike;
- Geraedts, Joep;
- de Ravel, Thomy
Publication type:
Article
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Published in:
2009
By:
- van der Zwaag, Paul A.;
- Jongbloed, Jan D.H.;
- van den Berg, Maarten P.;
- van der Smagt, Jasper J.;
- Jongbloed, Roselie;
- Bikker, Hennie;
- Hofstra, Robert M.W.;
- van Tintelen, J. Peter
Publication type:
Other
Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
Published in:
Genes, 2020, v. 11, n. 10, p. 1191, doi. 10.3390/genes11101191
By:
- van den Heuvel, Lieke M.;
- Jansen, Samara M. A.;
- Alsters, Suzanne I. M.;
- Post, Marco C.;
- van der Smagt, Jasper J.;
- Handoko-De Man, Frances S.;
- van Tintelen, J. Peter;
- Gille, Hans;
- Christiaans, Imke;
- Vonk Noordegraaf, Anton;
- Bogaard, HarmJan;
- Houweling, Arjan C.
Publication type:
Article
Monosomy 20 Mosaicism Revealed by Extensive Karyotyping in Blood and Skin Cells: Case Report and Review of the Literature.
Published in:
Cytogenetic & Genome Research, 2015, v. 144, n. 3, p. 155, doi. 10.1159/000369606
By:
- Hochstenbach, Ron;
- Krijtenburg, Pieter-Jaap;
- van der Veken, Lars T.;
- van der Smagt, Jasper;
- Roeleveld-Versteegh, angelique;
- Visser, Gepke;
- Terhal, Paulien
Publication type:
Article
Cardiogenetic screening of first-degree relatives after sudden cardiac death in the young: a population-based approach.
Published in:
EP: Europace, 2011, v. 13, n. 5, p. 716, doi. 10.1093/europace/euq460
By:
- Hendrix, Anneke;
- Borleffs, C. Jan Willem;
- Vink, Aryan;
- Doevendans, Pieter A.F.M;
- Wilde, Arthur A.;
- van Langen, Irene M.;
- van der Smagt, Jasper J.;
- Bots, Michiel L.;
- Mosterd, Arend
Publication type:
Article

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