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Research Output 2010 2019

  • 15 Article
  • 1 Chapter
  • 1 Comment/Letter to the editor
2019

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordass, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernandez-Jaen, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., Utzig, N. & 18 others, Koudijs, S. M., McGregor, L., Maas, S. M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A. S., Engle, E. C., Houge, G., Gradek, G. A., Douglas, A. G. L., Longman, C., Joss, S., Velasco, D., Hennekam, R. C., Hirata, H. & Kalscheuer, V. M., Dec 2019, In : Human Mutation. 40, 12, p. 2270-2285 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

De novo SPAST mutations may cause a complex SPG4 phenotype

Schieving, J. H., de Bot, S. T., van de Pol, L. A., Wolf, N. I., Brilstra, E. H., Frints, S. G., van Gaalen, J., Misra-lsrie, M., Pennings, M., Verschuuren-Bemelmans, C. C., Kamsteeg, E-J., van de Warrenburg, B. P. & Willemsen, M. A., Jul 2019, In : Brain. 142, 7, 5 p., e31.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Frints, S. G. M., Ozanturk, A., Rodriguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., Manouvrier-Hanu, S., Hickey, S. E., Kammoun, M., Gripp, K. W., Bauer, C., Schroeder, C., Toutain, A., Mosher, T. M., Kelly, B. J., White, P., Dufke, A., Rentmeester, E., Moon, S., Koboldt, D. C. & 25 others, van Roozendaal, K. E. P., Hu, H., Haas, S. A., Ropers, H-H., Murray, L., Haan, E., Shaw, M., Carroll, R., Friend, K., Liebelt, J., Hobson, L., De Rademaeker, M., Geraedts, J., Fryns, J-P., Vermeesch, J., Raynaud, M., Riess, O., Gribnau, J., Katsanis, N., Devriendt, K., Bauer, P., Gecz, J., Golzio, C., Gontan, C. & Kalscheuer, V. M., Nov 2019, In : Molecular Psychiatry. 24, 11, p. 1748-1768 21 p.

Research output: Contribution to journalArticleAcademicpeer-review

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

Valente, F. M., Sparago, A., Freschi, A., Hill-Harfe, K., Maas, S. M., Frints, S. G. M., Alders, M., Pignata, L., Franzese, M., Angelini, C., Carli, D., Mussa, A., Gazzin, A., Gabbarini, F., Acurzio, B., Ferrero, G. B., Bliek, J., Williams, C. A., Riccio, A. & Cerrato, F., Aug 2019, In : Genetics in Medicine. 21, 8, p. 1808-1820 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2017

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Seco, C. Z., Wesdorp, M., Feenstra, I., Pfundt, R., Hehir-Kwa, J. Y., Lelieveld, S. H., Castelein, S., Gilissen, C., de Wijs, I. J., Admiraal, R. J. C., Pennings, R. J. E., Kunst, H. P. M., van de Kamp, J. M., Tamminga, S., Houweling, A. C., Plomp, A. S., Maas, S. M., Gans, P. A. M. D. K., Kant, S. G., de Geus, C. M. & 10 others, Frints, S. G. M., Vanhoutte, E. K., van Dooren, M. F., van den Boogaard, M-J. H., Scheffer, H., Nelen, M., Kremer, H., Hoefsloot, L., Schraders, M. & Yntema, H. G., Feb 2017, In : European Journal of Human Genetics. 25, 3, p. 308-314 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2016
26 Citations (Scopus)

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hu, H., Haas, S. A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A. P. M., Weinert, S., Froyen, G., Frints, S. G. M., Laumonnier, F., Zemojtel, T., Love, M. I., Richard, H., Emde, A-K., Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M. & 64 others, Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M. A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K. L., Belet, S., van Roozendaal, K. E. P., Jimenez-Pocquet, M., Moizard, M-P., Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., Van Boemmel, A., Goeke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Mueller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bielenska, A., Ousager, L. B., Wieacker, P., Criado, G. R., Bondeson, M-L., Anneren, G., Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P., Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T. F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T. J., Chen, W., Ropers, H-H. & Kalscheuer, V. M., Jan 2016, In : Molecular Psychiatry. 21, 1, p. 133-148

Research output: Contribution to journalArticleAcademicpeer-review

2015
3 Citations (Scopus)
4 Citations (Scopus)

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

Ito, H., Shiwaku, H., Yoshida, C., Homma, H., Luo, H., Chen, X., Fujita, K., Musante, L., Fischer, U., Frints, S. G. M., Romano, C., Ikeuchi, Y., Shimamura, T., Imoto, S., Miyano, S., Muramatsu, S., Kawauchi, T., Hoshino, M., Sudol, M., Arumughan, A. & 7 others, Wanker, E. E., Rich, T., Schwartz, C., Matsuzaki, F., Bonni, A., Kalscheuer, V. M. & Okazawa, H., Apr 2015, In : Molecular Psychiatry. 20, 4, p. 459-471

Research output: Contribution to journalArticleAcademicpeer-review

2014

Prenatale diagnose van chromosomale afwijkingen: Vlokkentest

Al-Nasiry, S., Coumans, A., Frints, S., Gyselaers, W., Helsen, S., Macville, M., Pieters, . M., Ruytjens, K. & Willekens, C., 2014, Prenatale diagnose van chromosomale afwijkingen: Vlokkentest.

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2 Citations (Scopus)

Tetralogy of Fallot with coronary artery to pulmonary artery fistula

Witters, I., De Groot, R., Van Loo, K., Willekens, C., Coumans, A., Frints, S., Frijns, J-P. & Baldewijns, M., Dec 2014, In : Prenatal Diagnosis. 34, 13, p. 1345-1346

Research output: Contribution to journalArticleAcademicpeer-review

2013

Adducted thumbs: A clinical clue to genetic diagnosis

Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Blezer, M. M. J., Weber, J. W., Schrander, J. J. P., Rubio-Gozalbo, M. E., Bakker, J. A., Stegmann, A. P. A., Vos, Y. J. & Frints, S. G. M., Mar 2013, In : European Journal of Medical Genetics. 56, 3, p. 153-158

Research output: Contribution to journalArticleAcademicpeer-review

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Gruenewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., Kleefstra, T., Yntema, H., Campistol, J., Vilaseca, M. A., Cheillan, D., D'Hooghe, M., Diogo, L., Garcia, P., Valongo, C., Fonseca, M. & 40 others, Frints, S., Wilcken, B., von der Haar, S., Meijers-Heijboer, H. E., Hofstede, F., Johnson, D., Kant, S. G., Lion-Francois, L., Pitelet, G., Longo, N., Maat-Kievit, J. A., Monteiro, J. P., Munnich, A., Muntau, A. C., Nassogne, M. C., Osaka, H., Ounap, K., Pinard, J. M., Quijano-Roy, S., Poggenburg, I., Poplawski, N., Abdul-Rahman, O., Ribes, A., Arias, A., Yaplito-Lee, J., Schulze, A., Schwartz, C. E., Schwenger, S., Soares, G., Sznajer, Y., Valayannopoulos, V., Van Esch, H., Waltz, S., Wamelink, M. M. C., Pouwels, P. J. W., Errami, A., van der Knaap, M. S., Jakobs, C., Mancini, G. M. & Salomons, G. S., Jul 2013, In : Journal of Medical Genetics. 50, 7, p. 463-472

Research output: Contribution to journalArticleAcademicpeer-review

2012

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Frints, S., Apr 2012, In : Molecular Genetics and Metabolism. 105, 4, p. 596-601

Research output: Contribution to journalArticleAcademicpeer-review

2011

Congenital hydrocephalus in clinical practice: A genetic diagnostic approach

Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Krapels, P. C., de Die-Smulders, C. E. M., van Lint, F. H. M., Willekes, C., Weber, J. W., Gavilanes, A. W. D., Macville, M. V. E., Stegmann, A. P. A., Engelen, J. J. M., Bakker, J., Vos, Y. J. & Frints, S. G. M., 2011, In : European Journal of Medical Genetics. 54, 6, p. E542-E547

Research output: Contribution to journalArticleAcademicpeer-review

2010

Non-invasive prenatal testing: ethical issues explored

de Jong, A., Dondorp, W. J., de Die-Smulders, C. E. M., Frints, S. G. M. & de Wert, G. M. W. R., Mar 2010, In : European Journal of Human Genetics. 18, 3, p. 272-277

Research output: Contribution to journalArticleAcademicpeer-review

Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect

Perdu, B., de Freitas, F., Frints, S. G. M., Schouten, M., Schrander-Stumpel, C., Barbosa, M., Pinto-Basto, J., Reis-Lima, M., de Vernejoul, M-C., Becker, K., Freckmann, M-L., Keymolen, K., Haan, E., Savarirayan, R., Koenig, R., Zabel, B., Vanhoenacker, F. M. & Van Hul, W., Jan 2010, In : Journal of Bone and Mineral Research. 25, 1, p. 82-90

Research output: Contribution to journalArticleAcademicpeer-review