Jasper van der Smagt

2025

A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature

van der Laan, L., Kleinendorst, L., Haagmans, M. A., Roquas, L., van der Smagt, J. J., Koop, K., Henneman, P. & van Haelst, M. M., Jun 2025, In: European Journal of Medical Genetics. 75, 7 p., 105013.

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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

van der Laan, L., Silva, A., Kleinendorst, L., Rooney, K., Haghshenas, S., Lauffer, P., Alanay, Y., Bhai, P., Brusco, A., de Munnik, S., de Vries, B. B. A., Vega, A. D., Engelen, M., Herkert, J. C., Hochstenbach, R., Hopman, S., Kant, S. G., Kira, R., Kato, M. & Keren, B. & 24 others, Kroes, H. Y., Levy, M. A., Lock-Hock, N., Maas, S. M., Mancini, G. M. S., Marcelis, C., Matsumoto, N., Mizuguchi, T., Mussa, A., Mignot, C., Närhi, A., Nordgren, A., Pfundt, R., Polstra, A. M., Trajkova, S., van Bever, Y., José van den Boogaard, M., van der Smagt, J. J., Barakat, T. S., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 9 Jan 2025, In: Human Genetics and Genomics Advances. 6, 1, 100380.

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2024

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

Kerkhof, J., Rastin, C., Levy, M. A., Relator, R., McConkey, H., Demain, L., Dominguez-Garrido, E., Kaat, L. D., Houge, S. D., DuPont, B. R., Fee, T., Fletcher, R. S., Gokhale, D., Haukanes, B. I., Henneman, P., Hilton, S., Hilton, B. A., Jenkinson, S., Lee, J. A. & Louie, R. J. & 15 others, Motazacker, M. M., Rzasa, J., Stevenson, R. E., Plomp, A., van der Laan, L., van der Smagt, J., Walden, K. K., Banka, S., Mannens, M., Skinner, S. A., Friez, M. J., Campbell, C., Tedder, M. L., Alders, M. & Sadikovic, B., May 2024, In: Genetics in Medicine. 26, 5, 101075.

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Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey

van der Smagt, J. J., Lampri, A. P., de Lange, I., Alders, M., Houben, M. L., Koudijs, M. J. & van Jaarsveld, R. H., Jun 2024, In: European Journal of Medical Genetics. 69, 4 p., 104949.

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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome

D’Incal, C. P., Annear, D. J., Elinck, E., van der Smagt, J. J., Alders, M., Dingemans, A. J. M., Mateiu, L., de Vries, B. B. A., Vanden Berghe, W. & Kooy, R. F., Jun 2024, In: European Journal of Human Genetics. 32, 6, p. 630-638 9 p.

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Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants

Sewani, S., Azamian, M. S., Mendelsohn, B. A., Mau-Them, F. T., Réda, M., Nambot, S., Isidor, B., van der Smagt, J. J., Shen, J. J., Shillington, A., White, L., Elloumi, H. Z., Baker, P. R., Svihovec, S., Brown, K., Koopman-Keemink, Y., Hoffer, M. J. V., Lakeman, I. M. M., Brischoux-Boucher, E. & Kinali, M. & 3 others, Zhao, X., Lalani, S. R. & Scott, D. A., Mar 2024, In: American Journal of Medical Genetics, Part A. 194, 3, e63445.

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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa, H., Lewis, S. A., Bakhtiari, S., Nordlie, S. H., Pagnozzi, A., Magee, H., Efthymiou, S., Heim, J. A., Cornejo, P., Zaki, M. S., Anwar, N., Maqbool, S., Rahman, F., Neilson, D. E., Vemuri, A., Jin, S. C., Yang, X. R., Heidari, A., Van Gassen, K. & Trimouille, A. & 40 others, Thauvin-Robinet, C., Liu, J., Bruel, A. L., Tomoum, H., Shata, M. O., Hashem, M. O., Toosi, M. B., Karimiani, E. G., Yeşil, G., Lingappa, L., Baruah, D., Ebrahimzadeh, F., Van-Gils, J., Faivre, L., Zamani, M., Galehdari, H., Sadeghian, S., Shariati, G., Mohammad, R., Van Der Smagt, J., Qari, A., Vincent, J. B., Innes, A. M., Dursun, A., Özgül, R. K., Akar, H. T., Bilguvar, K., Mignot, C., Keren, B., Raveli, C., Burglen, L., Afenjar, A., Kaat, L. D., Van Slegtenhorst, M., Alkuraya, F., Houlden, H., Padilla-Lopez, S., Maroofian, R., Sacher, M. & Kruer, M. C., 1 Jan 2024, In: Brain. 147, 1, p. 311-324 14 p.

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2023

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Morleo, M., Venditti, R., Theodorou, E., Briere, L. C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F. A., Shi, J., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A. & Bademci, G. & 32 others, Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., van der Smagt, J., Kroes, H. Y., van Gassen, K. L. I., Undiagnosed Diseases Network & Telethon Undiagnosed Diseases Program, 3 Aug 2023, In: American Journal of Human Genetics. 110, 8, p. 1377-1393 17 p.

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Harms, F. L., Dingemans, A. J. M., Hempel, M., Pfundt, R., Bierhals, T., Casar, C., Müller, C., Niermeijer, J. M. F., Fischer, J., Jahn, A., Hübner, C., Majore, S., Agolini, E., Novelli, A., van der Smagt, J., Ernst, R., van Binsbergen, E., Mancini, G. M. S., van Slegtenhorst, M. & Barakat, T. S. & 7 others, Wakeling, E. L., Kamath, A., Downie, L., Pais, L., White, S. M., de Vries, B. B. A. & Kutsche, K., Oct 2023, In: Genetics in Medicine. 25, 10, 100927.

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

Rooney, K., van der Laan, L., Trajkova, S., Haghshenas, S., Relator, R., Lauffer, P., Vos, N., Levy, M. A., Brunetti-Pierri, N., Terrone, G., Mignot, C., Keren, B., Billette de Villemeur, T., Volker-Touw, C. M. L., Verbeek, N., van der Smagt, J. J., Oegema, R., Brusco, A., Ferrero, G. B. & Misra-Isrie, M. & 6 others, Hochstenbach, R., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., Aug 2023, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25, 8, 100871.

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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Copier, J. S., Bootsma, M., Ng, C. A., Wilde, A. A. M., Bertels, R. A., Bikker, H., Christiaans, I., van der Crabben, S. N., Hol, J. A., Koopmann, T. T., Knijnenburg, J., Lommerse, A. A. J., van der Smagt, J. J., Bezzina, C. R., Vandenberg, J. I., Verkerk, A. O., Barge-Schaapveld, D. Q. C. M. & Lodder, E. M., 1 Apr 2023, In: Human molecular genetics. 32, 7, p. 1072-1082 11 p.

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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Vetro, A., Pelorosso, C., Balestrini, S., Masi, A., Hambleton, S., Argilli, E., Conti, V., Giubbolini, S., Barrick, R., Bergant, G., Writzl, K., Bijlsma, E. K., Brunet, T., Cacheiro, P., Mei, D., Devlin, A., Hoffer, M. J. V., Machol, K., Mannaioni, G. & Sakamoto, M. & 32 others, Menezes, M. P., Courtin, T., Sherr, E., Parra, R., Richardson, R., Roscioli, T., Scala, M., von Stülpnagel, C., Smedley, D., Pochiero, F., Mari, F., Ramesh, V., Capra, V., Mancardi, M., Keren, B., Mignot, C., Lulli, M., Parks, K., Griffin, H., Brugger, M., Nigro, V., Hirata, Y., Koichihara, R., Peterlin, B., Maki, R., Nitta, Y., Ambrose, J. C., Arumugam, P., van der Smagt, J. J., van Gassen, K., Telethon Undiagnosed Diseases Program (TUDP) consortium & TMEM63B collaborators, The Genomics England Research Consortium, 3 Aug 2023, In: American Journal of Human Genetics. 110, 8, p. 1356-1376 21 p.

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

Hoorntje, E. T., Burns, C., Marsili, L., Corden, B., Parikh, V. N., Te Meerman, G. J., Gray, B., Adiyaman, A., Bagnall, R. D., Barge-Schaapveld, D. Q. C. M., Van Den Berg, M. P., Bootsma, M., Bosman, L. P., Correnti, G., Duflou, J., Eppinga, R. N., Fatkin, D., Fietz, M., Haan, E. & Jongbloed, J. D. H. & 29 others, Hauer, A. D., Lam, L., Van Lint, F. H. M., Lota, A., Marcelis, C., McCarthy, H. J., Van Mil, A. M., Oldenburg, R. A., Pachter, N., Planken, R. N., Reuter, C., Semsarian, C., Van Der Smagt, J. J., Thompson, T., Vohra, J., Volders, P. G. A., Van Waning, J. I., Whiffin, N., Van Den Wijngaard, A., Amin, A. S., Wilde, A. A. M., Van Woerden, G., Yeates, L., Zentner, D., Ashley, E. A., Wheeler, M. T., Ware, J. S., Van Tintelen, J. P. & Ingles, J., 1 Feb 2023, In: Circulation: Genomic and Precision Medicine. 16, 1, p. E003672 11 p.

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2022

Genetic testing in interstitial lung disease: An international survey

Terwiel, M., Borie, R., Crestani, B., Galvin, L., Bonella, F., Fabre, A., Froidure, A., Griese, M., Grutters, J. C., Johannson, K., Kannengiesser, C., Kawano-Dourado, L., Molina-Molina, M., Prasse, A., Renzoni, E. A., van der Smagt, J., Poletti, V., Antoniou, K. & van Moorsel, C. H. M., Sept 2022, In: Respirology. 27, 9, p. 747-757 11 p.

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

Cuinat, S., Nizon, M., Isidor, B., Stegmann, A., van Jaarsveld, R. H., van Gassen, K. L., van der Smagt, J. J., Volker-Touw, C. M. L., Holwerda, S. J. B., Terhal, P. A., Schuhmann, S., Vasileiou, G., Khalifa, M., Nugud, A. A., Yasaei, H., Ousager, L. B., Brasch-Andersen, C., Deb, W., Besnard, T. & Simon, M. E. H. & 31 others, Amsterdam, K.H.-V., Verbeek, N. E., Matalon, D., Dykzeul, N., White, S., Spiteri, E., Devriendt, K., Boogaerts, A., Willemsen, M., Brunner, H. G., Sinnema, M., De Vries, B. B. A., Gerkes, E. H., Pfundt, R., Izumi, K., Krantz, I. D., Xu, Z. L., Murrell, J. R., Valenzuela, I., Cusco, I., Rovira-Moreno, E., Yang, Y., Bizaoui, V., Patat, O., Faivre, L., Tran-Mau-Them, F., Vitobello, A., Denommé-Pichon, A.-S., Philippe, C., Bezieau, S. & Cogné, B., Aug 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 24, 8, p. 1774-1780 7 p.

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2021

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

Kummeling, J., Stremmelaar, D. E., Raun, N., Reijnders, M. R. F., Willemsen, M. H., Ruiterkamp-Versteeg, M., Schepens, M., Man, C. C. O., Gilissen, C., Cho, M. T., McWalter, K., Sinnema, M., Wheless, J. W., Simon, M. E. H., Genetti, C. A., Casey, A. M., Terhal, P. A., van der Smagt, J. J., van Gassen, K. L. I. & Joset, P. & 23 others, Bahr, A., Steindl, K., Rauch, A., Keller, E., Raas-Rothschild, A., Koolen, D. A., Agrawal, P. B., Hoffman, T. L., Powell-Hamilton, N. N., Thiffault, I., Engleman, K., Zhou, D., Bodamer, O., Hoefele, J., Riedhammer, K. M., Schwaibold, E. M. C., Tasic, V., Schubert, D., Top, D., Pfundt, R., Higgs, M. R., Kramer, J. M. & Kleefstra, T., Jun 2021, In: Molecular Psychiatry. 26, 6, p. 2013-2024 12 p.

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

van der Vis, J. J., van der Smagt, J. J., van Batenburg, A. A., Goldschmeding, R., van Es, H. W., Grutters, J. C. & van Moorsel, C. H. M., Dec 2021, In: Respirology. 26, 12, p. 1160-1170 11 p.

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1 Citation (Scopus)

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Muir, A. M., Gardner, J. F., van Jaarsveld, R. H., de Lange, I. M., van der Smagt, J. J., Wilson, G. N., Dubbs, H., Goldberg, E. M., Zitano, L., Bupp, C., Martinez, J., Srour, M., Accogli, A., Alhakeem, A., Meltzer, M., Gropman, A., Brewer, C., Caswell, R. C., Montgomery, T. & McKenna, C. & 36 others, McKee, S., Powell, C., Vasudevan, P. C., Brady, A. F., Joss, S., Tysoe, C., Noh, G., Tarnopolsky, M., Brady, L., Zafar, M., Schrier Vergano, S. A., Murray, B., Sawyer, L., Hainline, B. E., Sapp, K., DeMarzo, D., Huismann, D. J., Wentzensen, I. M., Schnur, R. E., Monaghan, K. G., Juusola, J., Rhodes, L., Dobyns, W. B., Lecoquierre, F., Goldenberg, A., Polster, T., Axer-Schaefer, S., Platzer, K., Klöckner, C., Hoffman, T. L., MacArthur, D. G., O'Leary, M. C., VanNoy, G. E., England, E., Varghese, V. C. & Mefford, H. C., May 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23, 5, p. 881-887 7 p.

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2020

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

van den Heuvel, L. M., Jansen, S. M. A., Alsters, S. I. M., Post, M. C., van der Smagt, J. J., Handoko-De Man, F. S., van Tintelen, J. P., Gille, H., Christiaans, I., Vonk Noordegraaf, A., Bogaard, H. & Houweling, A. C., 13 Oct 2020, In: Genes. 11, 10, p. 1-12 12 p., 1191.

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

van der Vis, J. J., van der Smagt, J. J., Hennekam, F. A. M., Grutters, J. C. & van Moorsel, C. H. M., Aug 2020, In: Chest. 158, 2, p. 612-619 8 p.

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2019

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

van Lint, F. H. M., Murray, B., Tichnell, C., Zwart, R., Amat, N., Lekanne Deprez, R. H., Dittmann, S., Stallmeyer, B., Calkins, H., van der Smagt, J. J., van den Wijngaard, A., Dooijes, D., van der Zwaag, P. A., Schulze-Bahr, E., Judge, D. P., Jongbloed, J. D. H., van Tintelen, J. P. & James, C. A., Aug 2019, In: Circulation. Genomic and precision medicine. 12, 8, e002467.

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

ADNP Consortium, 15 Feb 2019, In: Biological Psychiatry. 85, 4, p. 287-297 11 p.

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19 Citations (Scopus)

Heritability in genetic heart disease: The role of genetic background

Jansweijer, J. A., Van Spaendonck-Zwarts, K. Y., Tanck, M. W. T., Peter Van Tintelen, J., Christiaans, I., Van Der Smagt, J., Vermeer, A., Bos, J. M., Moss, A. J., Swan, H., Priori, S., Rydberg, A., Tfelt-Hansen, J., Ackerman, M., Olivotto, I., Charron, P., Gimeno, J. R., Van Den Berg, M., Wilde, A. & Pinto, Y. M., 1 May 2019, In: Open Heart. 6, 1, 7 p., e000929.

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

Mignot, C., McMahon, A. C., Bar, C., Campeau, P. M., Davidson, C., Buratti, J., Nava, C., Jacquemont, M.-L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A.-L., Brunga, L., Ceulemans, B. & Coubes, C. & 66 others, Cristancho, A. G., Cunningham, F., Dehouck, M.-B., Donner, E. J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E. M., Hagebeuk, E., Hamdan, F. F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J. L., Miller, K., Minassian, B. A., Morales, J., Moutard, M.-L., Munnich, A., Ortiz-Gonzalez, X. R., Pinard, J.-M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A. R., Roume, J., Rossignol, E., Simon, M. E. H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S. P., van der Smagt, J. J., van Hasselt, P. M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B., Møller, R. S., Lesca, G., Helbig, K. L., Nabbout, R., Verbeek, N. E. & Depienne, C., Apr 2019, In: Genetics in Medicine. 21, 4, p. 837-849 13 p.

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Self-healing collodion baby: Een nieuwe mutatie

Translated title of the contribution: Self-healing collodion baby: A new mutationde Jonge, C. J. E., van der Smagt, J. J., van Gijn, M. E. & De Graaf, M., 1 Apr 2019, In: Nederlands Tijdschrift voor Dermatologie en Venereologie. 29, 4, p. 72-74 3 p.

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

Kang, S. K., Vanoye, C. G., Misra, S. N., Echevarria, D. M., Calhoun, J. D., O'Connor, J. B., Fabre, K. L., McKnight, D., Demmer, L., Goldenberg, P., Grote, L. E., Thiffault, I., Saunders, C., Strauss, K. A., Torkamani, A., van der Smagt, J., van Gassen, K., Carson, R. P., Diaz, J. & Leon, E. & 12 others, Jacher, J. E., Hannibal, M. C., Litwin, J., Friedman, N. R., Schreiber, A., Lynch, B., Poduri, A., Marsh, E. D., Goldberg, E. M., Millichap, J. J., George, A. L. ,. J. & Kearney, J. A., 1 Dec 2019, In: Annals of Neurology. 86, 6, p. 899-912 14 p.

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The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update

Netherlands ACM Registry, 1 Oct 2019, In: Netherlands Heart Journal. 27, 10, p. 480-486 7 p.

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2018

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Members of the Undiagnosed Diseases Network, 1 Oct 2018, In: Genetics in Medicine. 20, 10, p. 1175-1185 11 p.

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29 Citations (Scopus)

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

Mitter, D., Lemke, J. R., Platzer, K., Jamra, R., Ploos van Amstel, H. K., van der Smagt, J. J., Stegmann, A. P. A., Stumpel, C. T. R. M., Stevens, S. J. C., Oberndorff, K., Marcelis, C. L., Cogné, B., Vincent, M., Simonic, I., Hague, J. & Park, S. M., 1 Aug 2018, In: Annals of Neurology. 84, 2, p. 200-207 8 p.

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Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin

Cuperus, E., Koevoets, R., van der Smagt, J. J., Toonstra, J., de Graaf, M., Frenkel, J. & Pasmans, S. G. M. A., 1 Mar 2018, In: JAAD Case Reports. 4, 2, p. 192-195 4 p.

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

Verhagen, J. M. A., Veldman, J. H., van der Zwaag, P. A., von der Thüsen, J. H., Brosens, E., Christiaans, I., Dooijes, D., Helderman-van Den Enden, A. T. J. M., Lekanne Deprez, R. H., Michels, M., van Mil, A. M., Oldenburg, R. A., van der Smagt, J. J., van Den Wijngaard, A., Wessels, M. W., Hofstra, R. M. W., van Slegtenhorst, M. A., Jongbloed, J. D. H. & van de Laar, I. M. B. H., 1 Nov 2018, In: European Journal of Human Genetics. 26, 11, p. 1603-1610 8 p.

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2017

Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies

Sepehrkhouy, S., Gho, J. M. I. H., van Es, R., Harakalova, M., de Jonge, N., Dooijes, D., van der Smagt, J. J., Buijsrogge, M. P., Hauer, R. N. W., Goldschmeding, R., de Weger, R. A., Asselbergs, F. W. & Vink, A., 1 Jul 2017, In: Heart Rhythm. 14, 7, p. 1024-1032 9 p.

Research output: Contribution to journal › Article › Academic › peer-review

1 Citation (Scopus)

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Zou, F., McWalter, K., Schmidt, L., Decker, A., Picker, J. D., Lincoln, S., Sweetser, D. A., Briere, L. C., Harini, C., Marsh, E., Medne, L., Wang, R. Y., Leydiker, K., Mower, A., Visser, G., Cuppen, I., van Gassen, K. L., van der Smagt, J., Yousaf, A. & Tennison, M. & 5 others, Shanmugham, A., Butler, E., Richard, G., McKnight, D. & Members of the Undiagnosed Diseases Network, 4 May 2017, In: Journal of Neurogenetics. 31, 1-2, p. 30-36 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Platzer, K., Yuan, H., Schütz, H., Winschel, A., Chen, W., Hu, C., Kusumoto, H., Heyne, H. O., Helbig, K. L., Tang, S., Willing, M. C., Tinkle, B. T., Adams, D. J., Depienne, C., Keren, B., Mignot, C., Frengen, E., Strømme, P., Biskup, S. & Döcker, D. & 55 others, Strom, T. M., Mefford, H. C., Myers, C. T., Muir, A. M., LaCroix, A., Sadleir, L. G., Scheffer, I. E., Brilstra, E., van Haelst, M. M., van der Smagt, J. J., Bok, L. A., Møller, R. S., Jensen, U. B., Millichap, J. J., Berg, A. T., Goldberg, E. M., De Bie, I., Fox, S., Major, P., Jones, J. R., Zackai, E. H., Abou Jamra, R., Rolfs, A., Leventer, R. J., Lawson, J. A., Roscioli, T., Jansen, F. E., Ranza, E., Korff, C. M., Lehesjoki, A.-E., Courage, C., Linnankivi, T., Smith, D. R., Stanley, C., Mintz, M., McKnight, D., Decker, A., Tan, W.-H., Tarnopolsky, M. A., Brady, L. I., Wolff, M., Dondit, L., Pedro, H. F., Parisotto, S. E., Jones, K. L., Patel, A. D., Franz, D. N., Vanzo, R., Marco, E., Ranells, J. D., Di Donato, N., Dobyns, W. B., Laube, B., Traynelis, S. F. & Lemke, J. R., 1 Jul 2017, In: Journal of Medical Genetics. 54, 7, p. 460-470 11 p.

Research output: Contribution to journal › Article › Academic › peer-review

Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation

Hoorntje, E. T., Bollen, I. A., Barge-Schaapveld, D. Q., Van Tienen, F. H. J., Te Meerman, G. J., Jansweijer, J. A., van Essen, A. J., Volders, P. G. A., Constantinescu, A., Van Den Akker, P. C., van Spaendonck-Zwarts, K. Y., Oldenburg, R. A., Marcelis, C. L. M., van der Smagt, J. J., Hennekam, E. A., Vink, A., Bootsma, M., Aten, E., Wilde, A. A. A. M. & van den Wijngaard, A. & 5 others, Broers, J. L., Jongbloed, J. D. H., van der Velden, J., van den Berg, M. P. & van Tintelen, J. P., Aug 2017, In: Circulation-Cardiovascular genetics. 10, 4, e001631.

Research output: Contribution to journal › Article › Academic › peer-review

Next Generation Sequencing of a large gene panel in patients initially diagnosed with idiopathic ventricular fibrillation

Visser, M., Dooijes, D., van der Smagt, J. J., van der Heijden, J. F., Doevendans, P. A., Loh, P., Asselbergs, F. W. & Hassink, R., Jul 2017, In: Heart Rhythm. 14, 7, p. 1035-1040 6 p.

Research output: Contribution to journal › Article › Academic › peer-review

Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family

Baas, A. F., Spiering, W., Moll, F. L., Page-Christiaens, L., Beenakkers, I. C. M., Dooijes, D., Vonken, E. J. P. A., van der Smagt, J. J., Knoers, N. V., Koenen, S. V., van Herwaarden, J. A. & Sieswerda, G. T. J., 1 Feb 2017, In: American Journal of Medical Genetics. Part A. 173, 2, p. 519-523 5 p.

Research output: Contribution to journal › Article › Academic › peer-review

Wat als de zaaddonor een erfelijke ziekte heeft?

Translated title of the contribution: What if the sperm donor has a hereditary disease?: Informed consent needed for sharing medical informationvan der Smagt, J. J., Govaerts, L. C. & Frints, S. G. M., 12 May 2017, In: Nederlands Tijdschrift voor Geneeskunde. 161, D1445.

Research output: Contribution to journal › Article › Professional

2016

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Almomani, R., Verhagen, J. M. A., Herkert, J. C., Brosens, E., van Spaendonck-Zwarts, K. Y., Asimaki, A., van der Zwaag, P. A., Frohn-Mulder, I. M. E., Bertoli-Avella, A. M., Boven, L. G., van Slegtenhorst, M. A., van der Smagt, J. J., van IJcken, W. F. J., Timmer, B., van Stuijvenberg, M., Verdijk, R. M., Saffitz, J. E., du Plessis, F. A., Michels, M. & Hofstra, R. M. W. & 5 others, Sinke, R. J., van Tintelen, J. P., Wessels, M. W., Jongbloed, J. D. H. & van de Laar, I. M. B. H., 9 Feb 2016, In: Journal of the American College of Cardiology. 67, 5, p. 515-525 11 p.

Research output: Contribution to journal › Article › Academic › peer-review

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Monroe, G. R., Frederix, G. W., Savelberg, S. M. C., De Vries, T. I., Duran, K. J., Van Der Smagt, J. J., Terhal, P. A., Van Hasselt, P. M., Kroes, H. Y., Verhoeven-Duif, N. M., Nijman, I. J., Carbo, E. C., Van Gassen, K. L., Knoers, N. V., Hövels, A. M., Van Haelst, M. M., Visser, G. & Van Haaften, G., 1 Sept 2016, In: Genetics in Medicine. 18, 9, p. 949-956 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

Long-Term Outcome of Patients Initially Diagnosed With Idiopathic Ventricular Fibrillation: A Descriptive Study

Visser, M., van der Heijden, J. F., van der Smagt, J. J., Doevendans, P. A., Wilde, A. A., Loh, K. & Hassink, R., Oct 2016, In: Circulation. Arrhythmia and Electrophysiology. 9, 10, e004258.

Research output: Contribution to journal › Article › Academic › peer-review

2015

A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes

Harakalová, M., Kummeling, G., Sammani, A., Linschoten, M., Baas, A. F., van der Smagt, J., Doevendans, P. A., van Tintelen, P. J., Dooijes, D., Mokry, M. & Asselbergs, F., May 2015, In: European Journal of Heart Failure. 17, 5, p. 484-493 10 p.

Research output: Contribution to journal › Article › Academic › peer-review

Cardiovascular genetics: Technological advancements and applicability for dilated cardiomyopathy

Kummeling, G. J. M., Baas, A. F., Harakalova, M., van der Smagt, J. J. & Asselbergs, F. W., 1 Jul 2015, In: Netherlands Heart Journal. 23, 7-8, p. 356-362 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Neonatale erythrodermie en collodionbaby

Translated title of the contribution: Neonatal erythroderma and collodion babyCuperus, E., Van Montfrans, J. M., Van Hasselt, P. M., Van Der Smagt, J. J., Sigurdsson, V., Van Dijk, M. R., Van Gijn, M. E. & Pasmans, S. G. M. A., 1 Sept 2015, In: Nederlands Tijdschrift voor Dermatologie & Venereologie. 25, 2, p. 70-76 7 p.

Research output: Contribution to journal › Article › Professional

2014

Congenital posterior pole cataract and adult onset dilating cardiomyopathy: Expanding the phenotype of αB-crystallinopathies

van der Smagt, J. J., Vink, A., Kirkels, J. H., Nelen, M. R., ter Heide, H., Molenschot, M. M. C., de Weger, R. A., Schellekens, P. A. W. J. F., Hoogendijk, J. E. & Dooijes, D., Apr 2014, In: Clinical Genetics. 85, 4, p. 381-385 5 p.

Research output: Contribution to journal › Article › Academic › peer-review

Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Groeneweg, J. A., Ummels, A., Mulder, M., Bikker, H., van der Smagt, J. J., van Mil, A. M., Homfray, T., Post, J. G., Elvan, A., van der Heijden, J. F., Houweling, A. C., Jongbloed, J. D., Wilde, A. A. M., van Tintelen, J. P., Hauer, R. N. W. & Dooijes, D., Nov 2014, In: Heart Rhythm. 11, 11, p. 2010-2017 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

Translated title of the contribution: Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.McKie, A. B., Al-Saedi, A., Vogt, J., Stuurman, K. E., Weiss, M. M., Shakeel, H., Tee, L., Morgan, N. V., Nikkels, P. G. J., van Haaften, G. W., Park, S. M., van der Smagt, J. J., Bugiani, M. & Maher, E., 2014, In: Acta Neuropathologica Communications [E]. 2, 1, p. 148 1 p.

Research output: Contribution to journal › Article › Academic › peer-review

Monocarboxylate transporter 1 deficiency and ketone utilization

Translated title of the contribution: Monocarboxylate transporter 1 deficiency and ketone utilizationvan Hasselt, P. M., Ferdinandusse, S., Monroe, G. R., Ruiter, J. P., Turkenburg, M., Geerlings, M. J., Duran, K., Harakalová, M., van der Zwaag, B., Monavari, A. A., Okur, I., Sharrard, M. J., Cleary, M., O'Conell, N., Walker, V., Rubio-Gozalbo, M. E., de Vries, M. C., Visser, G., Houwen, R. H. J. & van der Smagt, J. J. & 3 others, Verhoeven - Duif, N. M., Wanders, R. J. & van Haaften, G. W., 2014, In: New England Journal of Medicine. 371, 20, p. 1900-1907 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

Monosomy 20 mosaicism revealed by extensive karyotyping in blood and skin cells: Case report and review of the literature

Hochstenbach, R., Krijtenburg, P. J., Van Der Veken, L. T., Van Der Smagt, J., Roeleveld-Versteegh, A., Visser, G. & Terhal, P., 1 Jan 2014, In: Cytogenetic and Genome Research. 144, 3, p. 155-162 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

2013

Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes

Translated title of the contribution: Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring ChromosomesHochstenbach, R., van Gijn, M. E., Krijtenburg, P. J., Raemakers, R., van ´t Slot, R., Renkens, I. J., Eleveld, M. J., van der Smagt, J. J. & Poot, M., 2013, In: Molecular Syndromology. 3, 6, p. 274-283 10 p.

Research output: Contribution to journal › Article › Academic › peer-review

Jasper van der Smagt

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