Johanna van Hagen

DR.

20012019

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

  • 33 Article
  • 4 Review article
  • 1 Comment/Letter to the editor
Filter
Article
2019

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Vlaskamp, D. R. M., Shaw, B. J., Burgess, R., Mei, D., Montomoli, M., Xie, H., Myers, C. T., Bennett, M. F., Xiangwei, W., Williams, D., Maas, S. M., Brooks, A. S., Mancini, G. M. S., van de Laar, I. M. B. H., van Hagen, J. M., Ware, T. L., Webster, R. I., Malone, S., Berkovic, S. F., Kalnins, R. M. & 8 others, Sicca, F., Korenke, G. C., van Ravenswaaij-Arts, C. M. A., Hildebrand, M. S., Mefford, H. C., Jiang, Y., Guerrini, R. & Scheffer, I. E., 8 Jan 2019, In : Neurology. 92, 2, p. E96-E107

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., de Grandis, E. & 19 others, Altmüller, J., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S. & Gleeson, J. G., 2018, In : American journal of human genetics. 103, 3, p. 431-439

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Further delineation of Malan syndrome

Priolo, M., Schanze, D., Tatton-Brown, K., Mulder, P. A., Tenorio, J., Kooblall, K., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G. & 34 others, Huber, I., Iascone, M., Kaiser, A-S., Kamath, A., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Menke, L. A., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Valdez, R. M., van Haeringen, A., van Hagen, J. M., Zollino, M., Lapunzina, P., Thakker, R. V., Zenker, M. & Hennekam, R. C., 2018, In : Human Mutation. 39, 9, p. 1226-1237

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Overwater, E., Marsili, L., Baars, M. J. H., Baas, A. F., van de Beek, I., Dulfer, E., van Hagen, J. M., Hilhorst-Hofstee, Y., Kempers, M., Krapels, I. P., Menke, L. A., Verhagen, J. M. A., Yeung, K. K., Zwijnenburg, P. J. G., Groenink, M., van Rijn, P., Weiss, M. M., Voorhoeve, E., van Tintelen, J. P., Houweling, A. C. & 1 others, Maugeri, A., 1 Sep 2018, In : Human Mutation. 39, 9, p. 1173-1192 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2016

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

de Kock, L., Wang, Y. C., Revil, T., Badescu, D., Rivera, B., Sabbaghian, N., Wu, M., Weber, E., Sandoval, C., Hopman, S. M. J., Merks, J. H. M., van Hagen, J. M., Bouts, A. H. M., Plager, D. A., Ramasubramanian, A., Forsmark, L., Doyle, K. L., Toler, T., Callahan, J., Engelenberg, C. & 4 others, Bouron-Dal Soglio, D., Priest, J. R., Ragoussis, J. & Foulkes, W. D., Jan 2016, In : Journal of Medical Genetics. 53, 1, p. 43-52

Research output: Contribution to journalArticleAcademicpeer-review

2015

A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

Terhal, P. A., Nievelstein, R. J. A. J., Verver, E. J. J., Topsakal, V., van Dommelen, P., Hoornaert, K., Le Merrer, M., Zankl, A., Simon, M. E. H., Smithson, S. F., Marcelis, C., Kerr, B., Clayton-Smith, J., Kinning, E., Mansour, S., Elmslie, F., Goodwin, L., van der Hout, A. H., Veenstra-Knol, H. E., Herkert, J. C. & 36 others, Lund, A. M., Hennekam, R. C. M., Megarbane, A., Lees, M. M., Wilson, L. C., Korteland-van Male, A., Hurst, J., Alanay, Y., Anneren, G., Betz, R. C., Bongers, E. M. H. F., Cormier-Daire, V., Dieux, A., David, A., Elting, M. W., van den Ende, J., Green, A., van Hagen, J. M., Hertel, N. T., Holder-Espinasse, M., den Hollander, N., Homfray, T., Hove, H. D., Price, S., Raas-Rothschild, A., Rohrbach, M., Schroeter, B., Suri, M., Thompson, E. M., Tobias, E. S., Toutain, A., Vreeburg, M., Wakeling, E., Knoers, N. V., Coucke, P. & Mortier, G. R., 2015, In : American Journal of Medical Genetics Part A. 167, 3, p. 461-475

Research output: Contribution to journalArticleAcademicpeer-review

Birth Prevalence of Robin Sequence in the Netherlands From 2000-2010: A Retrospective Population-Based Study in a Large Dutch Cohort and Review of the Literature

Paes, E. C., van Nunen, D. P. F., Basart, H., don Griot, J. P. W., van Hagen, J. M., van der Horst, C. M. A. M., van den Boogaard, M. J. H. & Breugem, C. C., 2015, In : American Journal of Medical Genetics Part A. 167, 9, p. 1972-1982

Research output: Contribution to journalArticleAcademicpeer-review

Etiology and Pathogenesis of Robin Sequence in a Large Dutch Cohort

Basart, H., Paes, E. C., Maas, S. M., van den Boogaard, M. J. H., van Hagen, J. M., Breugem, C. C., Cobben, J. M., don Griot, J. P. W., Lachmeijer, A. M. A., Lichtenbelt, K. D., van Nunen, D. P. F., van der Horst, CM. & Hennekam, R. C., 2015, In : American Journal of Medical Genetics Part A. 167, 9, p. 1983-1992

Research output: Contribution to journalArticleAcademicpeer-review

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Maas, S. M., Shaw, A. C., Bikker, H., Ludecke, H. J., van der Tuin, K., Badura-Stronka, M., Belligni, E., Biamino, E., Bonati, M. T., Carvalho, D. R., Cobben, J., de Man, S. A., den Hollander, N. S., Di Donato, N., Garavelli, L., Gronborg, S., Herkert, J. C., Hoogeboom, A. J. M., Jamsheer, A., Latos-Bielenska, A. & 27 others, Maat-Kievit, A., Magnani, C., Marcelis, C., Mathijssen, I. B., Nielsen, M., Otten, E., Ousager, L. B., Pilch, J., Plomp, A., Poke, G., Poluha, A., Posmyk, R., Rieubland, C., Silengo, M., Simon, M., Steichen, E., Stumpel, C., Szakszon, K., Polonkai, E., van den Ende, J., van der Steen, A., van Essen, T., van Haeringen, A., van Hagen, J. M., Verheij, J. B. G. M., Mannens, M. M. & Hennekam, R. C., 2015, In : European Journal of Medical Genetics. 58, 5, p. 279-292

Research output: Contribution to journalArticleAcademicpeer-review

2013

Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

Revencu, N., Boon, L. M., Dompmartin, A., Rieu, P., Busch, W. L., Dubois, J., Forzano, F., van Hagen, J. M., Halbach, S., Kuechler, A., Lachmeijer, A. M. A., Lahde, J., Russell, L., Simola, K. O. J., Mulliken, J. B. & Vikkula, M., 2013, In : Molecular syndromology. 4, 4, p. 173-178

Research output: Contribution to journalArticleAcademicpeer-review

2012

Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation

Westland, R., Hack, W. W. M., van der Horst, H. J. R., Uittenbogaard, L. B., van Hagen, J. M., van der Valk, P., Kamsteeg, E. J., van den Heuvel, L. P. & van Wijk, J. A. E., 2012, In : Clinical Nephrology. 78, 6, p. 492-496

Research output: Contribution to journalArticleAcademicpeer-review

Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients

van Eerde, A. M., Duran, K., van Riel, E., de Kovel, C. G. F., Koeleman, B. P. C., Knoers, N. V. A. M., Renkema, K. Y., van der Horst, H. J. R., Bokenkamp, A., van Hagen, J. M., Van den Berg, L. H., Wolffenbuttel, K. P., van den Hoek, J., Feitz, W. F., De Jong, T. P. V. M., Giltay, J. C. & Wijmenga, C., 2012, In : PLoS ONE. 7, 4, e31327.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
File
53 Downloads (Pure)

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

de Munnik, S. A., Otten, B. J., Schoots, J., Bicknell, L. S., Aftimos, S., Al-Aama, J. Y., van Bever, Y., Bober, M. B., Borm, G. F., Clayton-Smith, J., Deal, C. L., Edrees, A. Y., Feingold, M., Fryer, A., van Hagen, J. M., Hennekam, R. C., Jansweijer, M. C. E., Johnson, D., Kant, S. G., Opitz, J. M. & 18 others, Ramadevi, A. R., Reardon, W., Ross, A., Sarda, P., Schrander-Stumpel, C., Sluiter, A. E., Temple, I. K., Terhal, P. A., Toutain, A., Wise, C. A., Wright, M., Skidmore, D. L., Samuels, M. E., Hoefsloot, L. H., Knoers, N. V. A. M., Brunner, H. G., Jackson, A. P. & Bongers, E. M. H. F., 2012, In : American Journal of Medical Genetics Part A. 158A, 11, p. 2733-2742

Research output: Contribution to journalArticleAcademicpeer-review

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

de Munnik, S. A., Bicknell, L. S., Aftimos, S., Al-Aama, J. Y., van Bever, Y., Bober, M. B., Clayton-Smith, J., Edrees, A. Y., Feingold, M., Fryer, A., van Hagen, J. M., Hennekam, R. C., Jansweijer, M. C. E., Johnson, D., Kant, S. G., Opitz, J. M., Ramadevi, A. R., Reardon, W., Ross, A., Sarda, P. & 14 others, Schrander-Stumpel, C., Schoots, J., Temple, I. K., Terhal, P. A., Toutain, A., Wise, C. A., Wright, M., Skidmore, D. L., Samuels, M. E., Hoefsloot, L. H., Knoers, N. V. A. M., Brunner, H. G., Jackson, A. P. & Bongers, E. M. H. F., 2012, In : European Journal of Human Genetics. 20, 6, p. 598-606

Research output: Contribution to journalArticleAcademicpeer-review

Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum

Whalen, S., Heron, D., Gaillon, T., Moldovan, O., Rossi, M., Devillard, F. O., Giuliano, F., Soares, G., Mathieu-Dramard, M., Afenjar, A., Charles, P., Mignot, C., Burglen, L., van Maldergem, L., Piard, J., Aftimos, S., Mancini, G., Dias, P., Philip, N., Goldenberg, A. & 17 others, Le Merrer, M., Rio, M., Josifova, D., van Hagen, J. M., Lacombe, D., Edery, P., Dupuis-Girod, S., Putoux, A., Sanlaville, D., Fischer, R., Drevillon, L., Briand-Suleau, A., Metay, C., Goossens, M., Amiel, J., Jacquette, A. & Giurgea, I., 2012, In : Human Mutation. 33, 1, p. 64-72

Research output: Contribution to journalArticleAcademicpeer-review

2011

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

Willemsen, M. H., Beunders, G., Callaghan, M., de Leeuw, N., Nillesen, W. M., Yntema, H. G., van Hagen, J. M., Nieuwint, A. W. M., Morrison, N., Keijzers-Vloet, S. T. M., Hoischen, A., Brunner, H. G., Tolmie, J. & Kleefstra, T., 2011, In : Clinical Genetics. 80, 1, p. 31-38

Research output: Contribution to journalArticleAcademicpeer-review

2010

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

Beunders, G., van de Kamp, J. M., Veenhoven, R. H., van Hagen, J. M., Nieuwint, A. W. M. & Sistermans, E. A., 2010, In : Journal of Medical Genetics. 47, 4, p. 271-275

Research output: Contribution to journalArticleAcademicpeer-review

Een neonaat met een aangeboren handafwijking

Zwijnenburg, P. J. G. & van Hagen, J. M., 2010, In : Nederlands Tijdschrift voor Geneeskunde. 154, A996.

Research output: Contribution to journalArticleProfessional

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Martinelli, S., De Luca, A., Stellacci, E., Rossi, C., Checquolo, S., Lepri, F., Caputo, V., Silvano, M., Buscherini, F., Consoli, F., Ferrara, G., Digilio, M. C., Cavaliere, M. L., van Hagen, J. M., Zampino, G., van der Burgt, I., Ferrero, G. B., Mazzanti, L., Screpanti, I., Yntema, H. G. & 6 others, Nillesen, W. M., Savarirayan, R., Zenker, M., Dallapiccola, B., Gelb, B. D. & Tartaglia, M., 2010, In : American journal of human genetics. 87, 2, p. 250-257

Research output: Contribution to journalArticleAcademicpeer-review

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Hoornaert, K. P., Vereecke, I., Dewinter, C., Rosenberg, T., Beemer, F. A., Leroy, J. G., Bendix, L., Bjorck, E., Bonduelle, M., Boute, O., Cormier-Daire, V., De Die-Smulders, C., Dollfus, H., Elting, M., Green, A., Guerci, V. I., Hennekam, R. C. M., Hilhorts-Hofstee, Y., Holder, M., Hoyng, C. & 32 others, Jones, K. J., Josifova, D., Kaitila, I., Kjaergaard, S., Kroes, Y. H., Lagerstedt, K., Lees, M., LeMerrer, M., Magnani, C., Marcelis, C., Martorell, L., Mathieu, M., McEntagart, M., Mendicino, A., Morton, J., Orazio, G., Paquis, V., Reish, O., Simola, K. O. J., Smithson, S. F., Temple, K. I., Van Aken, E., van Bever, Y., van der Ende, J., van Hagen, J. M., Zelante, L., Zordania, R., De Paepe, A., Leroy, B. P., de Buyzere, M., Coucke, P. J. & Mortier, G. R., 2010, In : European Journal of Human Genetics. 18, 8, p. 872-880

Research output: Contribution to journalArticleAcademicpeer-review

2009

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Huber, C., Delezoide, A. L., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D. B., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., Edery, P., Edouard, T., Fano, V., Gibson, K., Gillessen-Kaesbach, G., Giovannucci-Uzielli, M. L., Graul-Neumann, L. M., van Hagen, J. M. & 14 others, van Hest, L. P., Horovitz, D., Melki, J., Partsch, C. J., Plauchu, H., Rajab, A., Rossi, M., Sillence, D., Steichen-Gersdorf, E., Stewart, H., Unger, S., Zenker, M., Munnich, A. & Cormier-Daire, V., 2009, In : European Journal of Human Genetics. 17, 3, p. 395-400

Research output: Contribution to journalArticleAcademicpeer-review

Genetic and immunohistochemical analysis in a case of pleuropulmonary blastoma with renal tumor and small bowel polyps: Activation of the mToR signalling pathway

van Roij, M. H. H., Nellist, M., Wijnaendts, L. C. D., Groothoff, J. W., Bokenkamp, A., Kaspers, G. J. L., Nieuwint, A. W. M., Sistermans, E. A. & van Hagen, J. M., 2009, In : Pediatric Nephrology. 24, 4, p. 904-905

Research output: Contribution to journalArticleAcademicpeer-review

Variable phenotypic manifestion of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling

Houweling, A. C., Gille, J. J. P., Baart, J. A., van Hagen, J. M. & Lachmeijer, A. M. A., 2009, In : Clinical Dysmorphology. 18, p. 225-227

Research output: Contribution to journalArticleAcademicpeer-review

2008

Feasibility and outcomes of multiplex ligation-dependent probe amplification on buccal smears as a screening method for microdeletions and duplications among 300 adults with an intellectual disability of unknown aetiology

Peppink, D., Dourna-Kloppenburg, D. D., de Rooij-Askes, E. S. P., van Zoest, I. M., Evenhuis, H. M., Gille, J. J. P. & van Hagen, J. M., 2008, In : Journal of Intellectual Disability Research. 52, 1, p. 59-67

Research output: Contribution to journalArticleAcademicpeer-review

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

Revencu, N., Boon, L. M., Mulliken, J. B., Eniolras, O., Cordisco, M. R., Burrows, P. E., Clapuyt, P., Hammer, F., Dubois, J., Baselga, E., Brancati, F., Carder, R., Quintal, J. M. C., Dallapiccola, B., Fischer, G., Frieden, I. J., Garzon, M., Harper, J., Johnson-Patel, J., Labreze, C. & 14 others, Martorell, L., Paltiel, H. J., Pohl, A., Prendiville, J., Quere, I., Siegel, D. H., Valente, E. M., van Hagen, J. M., van Hest, L. P., Vaux, K. K., Vicente, A., Weibel, L., Chitayat, D. & Vikkulal, M., 2008, In : Human Mutation. 29, 7, p. 959-965

Research output: Contribution to journalArticleAcademicpeer-review

Rendu-Osler-Weber disease: update of medical and dental considerations

Veldhuis, E. C., te Veldhuis, A. H., van Dijk, F. S., Kwee, M. L., van Hagen, J. M., Baart, J. A. & van der Waal, I., 2008, In : Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology. 105, 2, p. e38-e41

Research output: Contribution to journalArticleAcademicpeer-review

2007

Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification

van Hagen, J. M., Eussen, H. J. F. M. M., van Schooten, R., van Der Geest, J. N., Lagers-van Haselen, G. C., Wouters, C. H., De Zeeuw, C. I. & Gille, J. J. P., 2007, In : Genetic Testing. 11, 3, p. 321-7 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

van Hagen, J. M., van der Geest, J. N., van der Giessen, R. S., Lagers-van Haselen, G. C., Eussen, H. J. F. M. M., Gille, J. J. P., Govaerts, L. C. P., Wouters, C. H., de Coo, I. F. M., Hoogenraad, C. C., Koekkoek, S. K. E., Frens, M. A., van Camp, N., van der Linden, A., Jansweijer, M. C. E., Thorgeirsson, S. S. & De Zeeuw, C. I., Apr 2007, In : Neurobiology of Disease. 26, 1, p. 112-24 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

2006

Regional underreporting of associated congenital anomalies in cleft patients in the Netherlands

van der Veen, F. J. C., van Hagen, J. M., Berkhof, J. & Don Griot, J. P. W., Nov 2006, In : Cleft Palate-Craniofacial Journal. 43, 6, p. 710-4 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

2004

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer

Menko, F. H., Kaspers, G. L., Meijer, G. A., Claes, K., van Hagen, J. M. & Gille, J. J. P., 2004, In : Familial Cancer. 3, 2, p. 123-7 5 p.

Research output: Contribution to journalArticleAcademicpeer-review