20092019

Research output per year

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Research Output

2019

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Smeland, M. F., McClenaghan, C., Roessler, H. I., Savelberg, S., Hansen, G. Å. M., Hjellnes, H., Arntzen, K. A., Müller, K. I., Dybesland, A. R., Harter, T., Sala-Rabanal, M., Emfinger, C. H., Huang, Y., Singareddy, S. S., Gunn, J., Wozniak, D. F., Kovacs, A., Massink, M., Tessadori, F., Kamel, S. M. & 5 others, Bakkers, J., Remedi, M. S., Van Ghelue, M., Nichols, C. G. & van Haaften, G., 01 Oct 2019, In : Nature Communications. 10, 1, p. 4457

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

Tessadori, F., Rehman, A. U., Giltay, J. C., Xia, F., Streff, H., Duran, K., Bakkers, J., Lalani, S. R. & van Haaften, G., 05 Dec 2019, In : European Journal of Human Genetics.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access

Identification and Characterization of a Transcribed Distal Enhancer Involved in Cardiac Kcnh2 Regulation

van den Boogaard, M., van Weerd, J. H., Bawazeer, A. C., Hooijkaas, I. B., van de Werken, H. J. G., Tessadori, F., de Laat, W., Barnett, P., Bakkers, J. & Christoffels, V. M., 03 Sep 2019, In : Cell Reports. 28, 10, p. 2704-2714.e5

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access

Identification of human D lactate dehydrogenase deficiency

Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., Calì, F. & 8 others, Bosco, P., Geleijns, K., de Sain-van der Velden, M. G. M., Knoers, N. V., Bakkers, J., Verhoeven-Duif, N. M., van Haaften, G. & Jans, J. J., 01 Apr 2019, In : Nature Communications. 10, 1, p. 1477

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access

Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations

Ciapaite, J., Albersen, M., Savelberg, S. M. C., Bosma, M., Tessadori, F., Gerrits, J., Lansu, N., Zwakenberg, S., Bakkers, J. P. W., Zwartkruis, F. J. T., van Haaften, G., Jans, J. J. & Verhoeven-Duif, N. M., 21 Nov 2019, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. p. 165607

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access

Single-cell analysis uncovers that metabolic reprogramming by ErbB2 signaling is essential for cardiomyocyte proliferation in the regenerating heart

Honkoop, H., de Bakker, D. E., Aharonov, A., Kruse, F., Shakked, A., Nguyen, P. D., de Heus, C., Garric, L., Muraro, M. J., Shoffner, A., Tessadori, F., Peterson, J. C., Noort, W., Bertozzi, A., Weidinger, G., Posthuma, G., Grun, D., van der Laarse, W. J., Klumperman, J., Jaspers, R. T. & 4 others, Poss, K. D., van Oudenaarden, A., Tzahor, E. & Bakkers, J., 23 Dec 2019, In : eLife. 8

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access
2018

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

Tessadori, F., Roessler, H. I., Savelberg, S. M. C., Chocron, S., Kamel, S. M., Duran, K. J., van Haelst, M. M., van Haaften, G. & Bakkers, J., 18 Oct 2018, In : Disease Models & Mechanisms. 11, 10

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

Rumping, L., Tessadori, F., Pouwels, P. J., Vringer, E., Wijnen, J. P., Bhogal, A. A., Savelberg, S. M., Duran, K. J., Bakkers, M. J., Ramos, R. J., Schellekens, P. A., Kroes, H. Y., Klomp, D. W., Black, G. C., Taylor, R. L., Bakkers, J. P., Prinsen, H. C., Knaap, M. S., Dansen, T. B., Rehmann, H. & 6 others, Zwartkruis, F. J., Houwen, R. H., Haaften, G., Verhoeven-Duif, N. M., Jans, J. J. & Hasselt, P. M., 2018, In : Human Molecular Genetics.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Kievit, A., Tessadori, F., Douben, H., Jordens, I., Maurice, M., Hoogeboom, J., Hennekam, R., Nampoothiri, S., Kayserili, H., Castori, M., Whiteford, M., Motter, C., Melver, C., Cunningham, M., Hing, A., Kokitsu-Nakata, N. M., Vendramini-Pittoli, S., Richieri-Costa, A., Baas, A. F., Breugem, C. C. & 17 others, Duran, K., Massink, M., Derksen, P. W. B., van IJcken, W. F. J., van Unen, L., Santos-Simarro, F., Lapunzina, P., Gil-da Silva Lopes, V. L., Lustosa-Mendes, E., Krall, M., Slavotinek, A., Martinez-Glez, V., Bakkers, J., van Gassen, K. L. I., de Klein, A., van den Boogaard, M-J. H. & van Haaften, G., Feb 2018, In : European Journal of Human Genetics. 26, 2, p. 210-219 10 p.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

2017

Genetic Dissection of Morphometric Traits Reveals that Phytochrome B Affects Nucleus Size and Heterochromatin Organization in Arabidopsis thaliana

Snoek, B. L., Pavlova, P., Tessadori, F., Peeters, A. J. M., Bourbousse, C., Barneche, F., de Jong, J. H., Fransz, P. F. & van Zanten, M., 07 Jun 2017, In : G3 (Bethesda, Md.).

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

Tessadori, F., Giltay, J. C., Hurst, J. A., Massink, M. P., Duran, K., Vos, H. R., van Es, R. M., Scott, R. H., van Gassen, K. L. I., Bakkers, J. & van Haaften, G., Nov 2017, In : Nature Genetics. 49, 11, p. 1642-1646 5 p.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

2016

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Lodder, E. M., De Nittis, P., Koopman, C. D., Wiszniewski, W., Moura de Souza, C. F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E. A., Boualla, L., Blom, N. A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Akdemir, Z. H. C., Fish, R. J. & 13 others, Eldomery, M. K., Ratbi, I., Wilde, A. A. M., de Boer, T., Simonds, W. F., Neerman-Arbez, M., Sutton, V. R., Kok, F., Lupski, J. R., Reymond, A., Bezzina, C. R., Bakkers, J. & Merla, G., 2016, In : American Journal of Human Genetics. 99, p. 704-710

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Lodder, E. M., De Nittis, P., Koopman, C. D., Wiszniewski, W., Moura de Souza, C. F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E. A., Boualla, L., Blom, N. A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Coban Akdemir, Z. H., Fish, R. J. & 13 others, Eldomery, M. K., Ratbi, I., Wilde, A. A. M., de Boer, T., Simonds, W. F., Neerman-Arbez, M., Sutton, V. R., Kok, F., Lupski, J. R., Reymond, A., Bezzina, C. R., Bakkers, J. & Merla, G., 01 Sep 2016, In : American Journal of Human Genetics. 99, 3, p. 786

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Josifova, D. J., Monroe, G. R., Tessadori, F., de Graaff, E., van der Zwaag, B., Mehta, S. G., Harakalova, M., Duran, K. J., Savelberg, S. M. C., Nijman, I. J., Jungbluth, H., Hoogenraad, C. C., Bakkers, J., Knoers, N. V., Firth, H. V., Beales, P. L., van Haaften, G. & van Haelst, M. M., 22 Mar 2016, In : Human Molecular Genetics.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

2015

Developmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for Desminopathies

Ramspacher, C., Steed, E., Boselli, F., Ferreira, R., Faggianelli, N., Roth, S., Spiegelhalter, C., Messaddeq, N., Trinh, L., Liebling, M., Chacko, N., Tessadori, F., Bakkers, J., Laporte, J., Hnia, K. & Vermot, J., 16 Jun 2015, In : Cell Reports. 11, 10, p. 1564-76 13 p.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access

Glypican4 promotes cardiac specification and differentiation by attenuating canonical Wnt and Bmp signaling

Strate, I., Tessadori, F. & Bakkers, J., 15 May 2015, In : Development. 142, 10, p. 1767-76 10 p.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access

Nodal signaling range is regulated by proprotein convertase-mediated maturation

Tessadori, F., Noël, E. S., Rens, E. G., Magliozzi, R., Evers-van Gogh, I. J. A., Guardavaccaro, D., Merks, R. M. H. & Bakkers, J., 09 Mar 2015, In : Developmental Cell. 32, 5, p. 631-9 9 p.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Marchegiani, S., Davis, T., Tessadori, F., van Haaften, G., Brancati, F., Hoischen, A., Huang, H., Valkanas, E., Pusey, B., Schanze, D., Venselaar, H., Vulto-van Silfhout, A. T., Wolfe, L. A., Tifft, C. J., Zerfas, P. M., Zambruno, G., Kariminejad, A., Sabbagh-Kermani, F., Lee, J., Tsokos, M. G. & 27 others, Lee, C-C. R., Ferraz, V., da Silva, E. M., Stevens, C. A., Roche, N., Bartsch, O., Farndon, P., Bermejo-Sanchez, E., Brooks, B. P., Maduro, V., Dallapiccola, B., Ramos, F. J., Chung, H-Y. B., Le Caignec, C., Martins, F., Jacyk, W. K., Mazzanti, L., Brunner, H. G., Bakkers, J., Lin, S., Malicdan, M. C. V., Boerkoel, C. F., Gahl, W. A., de Vries, B. B. A., van Haelst, M. M., Zenker, M. & Markello, T. C., 02 Jul 2015, In : American Journal of Human Genetics. 97, 1, p. 99-110 12 p.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access
2014

Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish

Bonetti, M., Paardekooper Overman, J., Tessadori, F., Noël, E., Bakkers, J. & den Hertog, J., May 2014, In : Development. 141, 9, p. 1961-70 10 p.

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access
2013

A Nodal-independent and tissue-intrinsic mechanism controls heart-looping chirality

Noel, E. S., Verhoeven, M., Lagendijk, A. K., Tessadori, F., Smith, K., Choorapoikayil, S., den Hertog, J. & Bakkers, J., 2013, In : Nature Communications. 4, p. 2754

Research output: Contribution to journal/periodicalArticleScientificpeer-review

2012

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer

van den Boogaard, M., Wong, L. Y., Tessadori, F., Bakker, M. L., Dreizehnter, L. K., Wakker, V., Bezzina, C. R., 't Hoen, P. A., Bakkers, J., Barnett, P. & Christoffels, V. M., 2012, In : Journal of Clinical Investigation. 122, 7, p. 2519-2530

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Identification and functional characterization of cardiac pacemaker cells in zebrafish

Tessadori, F., van Weerd, J. H., Burkhard, S. B., Verkerk, A. O., de Pater, E., Boukens, B. J., Vink, A., Christoffels, V. M. & Bakkers, J., 2012, In : PLoS One. 7, 10, p. 47644

Research output: Contribution to journal/periodicalArticleScientificpeer-review

2011

Sox4 mediates Tbx3 transcriptional regulation of the gap junction protein Cx43

Boogerd, C. J., Wong, L. Y., van den Boogaard, M., Bakker, M. A. J., Tessadori, F., Bakkers, J., 't Hoen, P. A. C., Moorman, A. F., Christoffels, V. M. & Barnett, P., 2011, In : Cellular and Molecular Life Sciences. 68, 23, p. 3949-3961

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access
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2009

PHYTOCHROME B and HISTONE DEACETYLASE 6 Control Light-Induced Chromatin Compaction in Arabidopsis thaliana

Tessadori, F., van Zanten, M., Pavlova, P., Clifton, R., Pontvianne, F., Snoek, B., Millenaar, F. F., Schulkes, R. K., van Driel, R., Voesenek, L. A. C. J., Spillane, C., Pikaard, C. S., Fransz, P. & Peeters, A. J. M., Sep 2009, In : PLoS Genetics. 5, 9

Research output: Contribution to journal/periodicalArticleScientificpeer-review