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drs. J.J. van der Smagt

drs. J.J. van der Smagt

Assistant Professor - medical
  • Section Clinical Genetics

Research Programs

Circulatory Health

Research Output (132)

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder

Rooney Kathleen, van der Laan Liselot, Trajkova Slavica, Haghshenas Sadegheh, Relator Raissa, Lauffer Peter, Vos Niels, Levy Michael A, Brunetti-Pierri Nicola, Terrone Gaetano, Mignot Cyril, Keren Boris, Billette de Villemeur Thierry, Volker-Touw Catharina M L, Verbeek Nienke, van der Smagt Jasper J, Oegema Renske, Brusco Alfredo, Ferrero Giovanni Battista, Misra-Isrie Mala, Hochstenbach Ron, Alders Mariëlle, Mannens Marcel M A M, Sadikovic Bekim, van Haelst Mieke M, Henneman Peter 27 Apr 2023, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25

Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

Hoorntje Edgar T., Burns Charlotte, Marsili Luisa, Corden Ben, Parikh Victoria N., Te Meerman Gerard J., Gray Belinda, Adiyaman Ahmet, Bagnall Richard D., Barge-Schaapveld Daniela Q.C.M., Van Den Berg Maarten P., Bootsma Marianne, Bosman Laurens P., Correnti Gemma, Duflou Johan, Eppinga Ruben N., Fatkin Diane, Fietz Michael, Haan Eric, Jongbloed Jan D.H., Hauer Arnaud D., Lam Lien, Van Lint Freyja H.M., Lota Amrit, Marcelis Carlo, McCarthy Hugh J., Van Mil Anneke M., Oldenburg Rogier A., Pachter Nicholas, Planken R. Nils, Reuter Chloe, Semsarian Christopher, Van Der Smagt Jasper J., Thompson Tina, Vohra Jitendra, Volders Paul G.A., Van Waning Jaap I., Whiffin Nicola, Van Den Wijngaard Arthur, Amin Ahmad S., Wilde Arthur A.M., Van Woerden Gijs, Yeates Laura, Zentner Dominica, Ashley Euan A., Wheeler Matthew T., Ware James S., Van Tintelen J. Peter, Ingles Jodie 1 Feb 2023, In: Circulation: Genomic and Precision Medicine. 16 , p. E003672 11 p.

European Respiratory Society Statement on Familial Pulmonary Fibrosis

Borie Raphael, Kannengiesser C, Antoniou Katerina, Bonella Francesco, Crestani Bruno, Fabre Aurélie, Froidure Antoine, Galvin Liam, Griese Matthias, Grutters Jan C, Molina-Molina Maria, Poletti Venerino, Prasse Antje, Renzoni Elisabetta, van der Smagt Jasper, van Moorsel Coline H M 22 Dec 2022, In: The European respiratory journal. 61

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Cuinat Silvestre, Nizon Mathilde, Isidor Bertrand, Stegmann Alexander, van Jaarsveld Richard H, van Gassen Koen L, van der Smagt Jasper J, Volker-Touw Catharina M L, Holwerda Sjoerd J B, Terhal Paulien A, Schuhmann Sarah, Vasileiou Georgia, Khalifa Mohamed, Nugud Alaa A, Yasaei Hemad, Ousager Lilian Bomme, Brasch-Andersen Charlotte, Deb Wallid, Besnard Thomas, Simon Marleen E H, Amsterdam Karin Huijsdens-van, Verbeek Nienke E, Matalon Dena, Dykzeul Natalie, White Shana, Spiteri Elizabeth, Devriendt Koen, Boogaerts Anneleen, Willemsen Marjolein, Brunner Han G, Sinnema Margje, De Vries Bert B A, Gerkes Erica H, Pfundt Rolph, Izumi Kosuke, Krantz Ian D, Xu Zhou L, Murrell Jill R, Valenzuela Irene, Cusco Ivon, Rovira-Moreno Eulàlia, Yang Yaping, Bizaoui Varoona, Patat Olivier, Faivre Laurence, Tran-Mau-Them Frederic, Vitobello Antonio, Denommé-Pichon Anne-Sophie, Philippe Christophe, Bezieau Stéphane, Cogné Benjamin 13 May 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 24 , p. 1774-1780 7 p.

Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia

Noordermeer Tessa, van Asten Ivar, Schutgens Roger E.G., Lakerveld Anke J., Koekman Cornelis A., Hage Kay Y., Sebastian Silvie A.E., Huisman Albert, van den Heuvel Dave J., Gerritsen Hans C., Korporaal Suzanne J.A., Bierings Marc, van der Smagt Jasper J., van Gijn Marielle E., Urbanus Rolf T. 7 Mar 2022, In: Blood Advances. 6 , p. 3347-3351 5 p.

Genetic testing in interstitial lung disease:An international survey

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. 2022, In: Respirology. 27 , p. 747-757 11 p.

Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations

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. Dec 2021, In: Respirology. 26 , p. 1160-1170 11 p.

Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients

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 13 Oct 2020, In: Genes. 11 , p. 1-12 12 p.

PULMONARY FIBROSIS AND A TERT FOUNDER MUTATION WITH A LATENCY PERIOD OF 300 YEARS

van der Vis Joanne J, van der Smagt Jasper J, Hennekam Frederic A M, Grutters Jan C, van Moorsel Coline H M 18 Apr 2020, In: Chest. 158 , p. 612-619 8 p.

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Kummeling Joost, Stremmelaar Diante E., Raun Nicholas, Reijnders Margot R.F., Willemsen Marjolein H., Ruiterkamp-Versteeg Martina, Schepens Marga, Man Calvin C.O., Gilissen Christian, Cho Megan T., McWalter Kirsty, Sinnema Margje, Wheless James W., Simon Marleen E.H., Genetti Casie A., Casey Alicia M., Terhal Paulien A., van der Smagt Jasper J., van Gassen Koen L.I., Joset Pascal, Bahr Angela, Steindl Katharina, Rauch Anita, Keller Elmar, Raas-Rothschild Annick, Koolen David A., Agrawal Pankaj B., Hoffman Trevor L., Powell-Hamilton Nina N., Thiffault Isabelle, Engleman Kendra, Zhou Dihong, Bodamer Olaf, Hoefele Julia, Riedhammer Korbinian M., Schwaibold Eva M.C., Tasic Velibor, Schubert Dirk, Top Deniz, Pfundt Rolph, Higgs Martin R., Kramer Jamie M., Kleefstra Tjitske 1 Jan 2020, In: Molecular Psychiatry. 26 , p. 2013-2024 12 p.

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