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drs. J.J. (Jasper) van der Smagt

Assistant Professor - medical

  • Section Clinical Genetics

Research Programs

Research Output (122)

Pulmonary fibrosis linked to variants in the ACD gene, encoding the telomere protein TPP1

Hoffman Thijs W., Van Der Vis Joanne J., Van Der Smagt Jasper J., Massink Maarten P.G., Grutters Jan C., Van Moorsel Coline H.M. 1 dec 2019, In: European Respiratory Journal. 54

Spectrum of K(V)2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders

Kang Seok Kyu, Vanoye Carlos G., Misra Sunita N., Echevarria Dennis M., Calhoun Jeffrey D., O'Connor John B., Fabre Katarina L., McKnight Dianalee, Demmer Laurie, Goldenberg Paula, Grote Lauren E., Thiffault Isabelle, Saunders Carol, Strauss Kevin A., Torkamani Ali, van der Smagt Jasper, van Gassen Koen, Carson Robert P., Diaz Jullianne, Leon Eyby, Jacher Joseph E., Hannibal Mark C., Litwin Jessica, Friedman Neil R., Schreiber Allison, Lynch Bryan, Poduri Annapurna, Marsh Eric D., Goldberg Ethan M., Millichap John J., George Alfred L., Jr., Kearney Jennifer A. 1 dec 2019, In: Annals of Neurology. 86 , p. 899-912 14 p.

The Netherlands Arrhythmogenic Cardiomyopathy Registry:design and status update

Bosman L. P., Verstraelen T. E., van Lint F. H.M., Cox M. G.P.J., Groeneweg J. A., Mast T. P., van der Zwaag P. A., Volders P. G.A., Evertz R., Wong L., de Groot N. M.S., Zeppenfeld K., van der Heijden J. F., van den Berg M. P., Wilde A. A.M., Asselbergs F. W., Hauer R. N.W., te Riele A. S.J.M., van Tintelen J. P., Baas A. F., Barge-Schaapveld D. Q.C.M., Boekholdt S. M., Cramer M. J.M., Dooijes D., Jongbloed J. D.H., Loh P., Planken R. N., Prakken N. H.J., van der Smagt J. J., van der Wal A. C., Teske A. J., van Veen T. A.B., Velthuis B. K., Vink A., Yap S. C., 1 okt 2019, In: Netherlands Heart Journal. 27 , p. 480-486 7 p.

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo:Segregation and Haplotype Analysis of a Multinational Cohort

van Lint Freyja H M, Murray Brittney, Tichnell Crystal, Zwart Rob, Amat Nuria, Lekanne Deprez Ronald H, Dittmann Sven, Stallmeyer Birgit, Calkins Hugh, van der Smagt Jasper J, van den Wijngaard Arthur, Dooijes Dennis, van der Zwaag Paul A, Schulze-Bahr Eric, Judge Daniel P, Jongbloed Jan D H, van Tintelen J Peter, James Cynthia A 6 aug 2019, In: Circulation. Genomic and precision medicine. 12

Lack of genotype-phenotype correlation in basal cell nevus syndrome:A Dutch multicenter retrospective cohort study

Cosgun Betül, Reinders Marie G.H.C., van Geel Michel, Steijlen Peter M., van Hout Antonius F.W., Leter Edward M., van der Smagt Jasper J., van Hagen Johanna M., Berger Lieke P.V., Kets C. Marleen, Wagner Anja, Aalfs Cora M., Hes Frederik J., van der Kolk Lizet E., Gille Johan J.P., Mosterd Klara 30 jul 2019, In: Journal of the American Academy of Dermatology. 83 , p. 604-607 4 p.

Heritability in genetic heart disease:The role of genetic background

Jansweijer Joeri A., Van Spaendonck-Zwarts Karin Y., Tanck Michael W.T., Peter Van Tintelen J., Christiaans Imke, Van Der Smagt Jasper, Vermeer Alexa, Bos J. Martijn, Moss Arthur J., Swan Heikki, Priori Sylvia, Rydberg Annika, Tfelt-Hansen Jacob, Ackerman Michael, Olivotto Iacopo, Charron Philippe, Gimeno Juan R., Van Den Berg Maarten, Wilde Arthur, Pinto Yigal M. 1 mei 2019, In: Open Heart. 6 7 p.

Self-healing collodion baby:Een nieuwe mutatie

de Jonge C. J.Els, van der Smagt J. J., van Gijn M. E., De Graaf M. 1 apr 2019, In: Nederlands Tijdschrift voor Dermatologie en Venereologie. 29 , p. 72-74 3 p.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Van Dijck Anke, Vulto-van Silfhout Anneke T., Cappuyns Elisa, van der Werf Ilse M., Mancini Grazia M., Tzschach Andreas, Bernier Raphael, Gozes Illana, Eichler Evan E., Romano Corrado, Lindstrand Anna, Nordgren Ann, Bakshi Madhura, Wilson Meredith, Berman Yemina, Dickson Rebecca, Fransen Erik, Helsmoortel Céline, Van den Ende Jenneke, Van der Aa Nathalie, van de Wijdeven Marina J., Rosenblum Jessica, Monteiro Fabíola, Kok Fernando, Quercia Nada, Bowdin Sarah, Dyment David, Chitayat David, Alkhunaizi Ebba, Boonen Susanne E., Keren Boris, Jacquette Aurelia, Faivre Laurence, Bezieau Stephane, Isidor Bertrand, Rieß Angelika, Moog Ute, Lynch Sally Ann, McVeigh Terri, Elpeleg Orly, Smeland Marie Falkenberg, Fannemel Madeleine, van Haeringen Arie, Maas Saskia M., Veenstra-Knol H. E., Schouten Meyke, Willemsen Marjolein H., Marcelis Carlo L., Ockeloen Charlotte, van der Smagt Jasper, 15 feb 2019, In: Biological Psychiatry. 85 , p. 287-297 11 p.

IQSEC2-related encephalopathy in males and females:a comparative study including 37 novel patients

Mignot Cyril et al. 12 sep 2018, In: Genetics in Medicine. 21 , p. 837-849 13 p.

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development

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 1 aug 2018, In: Annals of Neurology. 84 , p. 200-207 8 p.

All Research Output (122)