Mariet Elting

DR.

20092019
If you made any changes in Pure these will be visible here soon.

Research Output 2009 2019

2019

Fatal neonatal hypertrophic cardiomyopathy caused by compound heterozygous truncating MYBPC3 mutation

Alsters, S., Wong, L., Peferoen, L., Niessen, H. W. M., Bikker, H., Elting, M. W. & Houweling, A. C., 2019, In : Netherlands Heart Journal. 27, 5, p. 282-283

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: Update on genetic testing in the NGS era

Stuurman, K. E., Joosten, M., van der Burgt, I., Elting, M., Yntema, H. G., Meijers-Heijboer, H. & Rinne, T., 1 Oct 2019, In : Journal of Medical Genetics. 56, 10, p. 654-661

Research output: Contribution to journalArticleAcademicpeer-review

2018

Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers

van Gaalen, J., Maas, R. P. P. W. M., Ippel, E. F., Elting, M. W., van Spaendonck-Zwarts, K. Y., Vermeer, S., Verschuuren-Bemelmans, C., Timmann, D. & van de Warrenburg, B. P., 2018, In : Experimental Brain Research.

Research output: Contribution to journalArticleAcademicpeer-review

A common pathomechanism in GMAP-210- and LBR-related diseases

Wehrle, A., Witkos, T. M., Schneider, J. C., Hoppmann, A., Behringer, S., Köttgen, A., Elting, M., Spranger, J. R., Lowe, M. & Lausch, E., 2018, In : JCI Insight. 3, 23

Research output: Contribution to journalArticleAcademicpeer-review

Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy

Wesdorp, M., Schreur, V., Beynon, A. J., Oostrik, J., van de Kamp, J. M., Elting, M. W., van den Boogaard, M. J. H., Feenstra, I., Admiraal, R. J. C., Kunst, H. P. M., Hoyng, C. B., Kremer, H., Yntema, H. G., Pennings, R. J. E. & Schraders, M., 2018, In : Clinical Genetics. 94, 2, p. 221-231

Research output: Contribution to journalArticleAcademicpeer-review

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

The DDD Study, 2018, In : Genetics in Medicine.

Research output: Contribution to journalArticleAcademicpeer-review

2017

Phenotypes and genotypes in individuals with SMC1A variants

Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A. M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S. & 28 othersHorn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., 1 Aug 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Madeo, M., Stewart, M., Sun, Y., Sahir, N., Wiethoff, S., Chandrasekar, I., Yarrow, A., Rosenfeld, J. A., Yang, Y., Cordeiro, D., McCormick, E. M., Muraresku, C. C., Jepperson, T. N., McBeth, L. J., Seidahmed, M. Z., El Khashab, H. Y., Hamad, M., Azzedine, H., Clark, K., Corrochano, S. & 21 othersWells, S., Elting, M. W., Weiss, M. M., Burn, S., Myers, A., Landsverk, M., Crotwell, P. L., Waisfisz, Q., Wolf, N. I., Nolan, P. M., Padilla-Lopez, S., Houlden, H., Lifton, R., Mane, S., Singh, B. B., Falk, M. J., Mercimek-Mahmutoglu, S., Bilguvar, K., Salih, M. A., Acevedo-Arozena, A. & Kruer, M. C., 2 Jun 2016, In : American journal of human genetics. 98, 6, p. 1249-1255

Research output: Contribution to journalArticleAcademicpeer-review

PHARC: zeldzame oorzaak van polyneuropathie met ataxie

Bek-Tol, MC., Elting, MW. & Berendse, HW., 2016, In : Tijdschrift voor Neurologie & Neurochirurgie. 117, 3, p. 103-108

Research output: Contribution to journalArticleProfessional

Two Cases of RIT1 Associated Noonan Syndrome: Further Delineation of the Clinical Phenotype and Review of the Literature

Milosavljevic, D., Overwater, E., Tamminga, S., de Boer, K., Elting, M. W., van Hoorn, M. E., Rinne, T. & Houweling, A. C., Jul 2016, In : American Journal of Medical Genetics Part A. 170, 7, p. 1874-1880

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 othersLund, 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

Maternale uniparentale disomie 14. In de differentiaaldiagnose bij Prader-Willi-syndroom

Tamminga, S., Stalman, S. E., Kamp, G. A., Hendriks, Y. M. C., Knegt, A. C. L. & Elting, M. W., 2015, In : Nederlands Tijdschrift voor Geneeskunde. 159, A8240.

Research output: Contribution to journalArticleProfessional

2014

Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients

Rigter, T., van Aart, C. J. A., Elting, M. W., Waisfisz, Q., Cornel, M. C. & Henneman, L., 2014, In : Clinical Genetics. 85, 5, p. 417-422

Research output: Contribution to journalArticleAcademicpeer-review

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

van Rij, M. C., Gans, P. A. M. D., Aalfs, C. M., Elting, M. W., Ippel, P. F., Maat-Kievit, J. A., Vermeer, S., Verschuuren-Bemelmans, C. C., van Belzen, MJ., Belfroid, R. D. M., Losekoot, M., Geraedts, J. P. M., Roos, R. A. C., Tibben, A., de Die-Smulders, C. E. M. & Bijlsma, E. K., 2014, In : Clinical Genetics. 85, 1, p. 78-86

Research output: Contribution to journalArticleAcademicpeer-review

2013

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Hoff, S., Halbritter, J., Epting, D., Frank, V., Nguyen, T. M. T., van Reeuwijk, J., Boehlke, C., Schell, C., Yasunaga, T., Helmstadter, M., Mergen, M., Filhol, E., Boldt, K., Horn, N., Ueffing, M., Otto, E. A., Eisenberger, T., Elting, M. W., van Wijk, J. A. E., Bockenhauer, D. & 21 othersSebire, N. J., Rittig, S., Vyberg, M., Ring, T., Pohl, M., Pape, L., Neuhaus, T. J., Elshakhs, N. A. S., Koon, S. J., Harris, P. C., Grahammer, F., Huber, T. B., Kuehn, E. W., Kramer-Zucker, A., Bolz, H. J., Roepman, R., Saunier, S., Walz, G., Hildebrandt, F., Bergmann, C. & Lienkamp, S. S., 2013, In : Nature Genetics. 45, 8, p. 951-956

Research output: Contribution to journalArticleAcademicpeer-review

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

Rigter, T., Henneman, L., Kristoffersson, U., Hall, A., Yntema, H. G., Borry, P., Tonnies, H., Waisfisz, Q., Elting, M. W., Dondorp, W. J. & Cornel, M. C., 2013, In : Human Mutation. 34, 10, p. 1322-1328

Research output: Contribution to journalArticleAcademicpeer-review

2012
39 Downloads (Pure)

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

Raivio, T., Avbelj, M., Mccabe, M. J., Romero, C. J., Dwyer, A. A., Tommiska, J., Sykiotis, G. P., Gregory, L. C., Diaczok, D., Tziaferi, V., Elting, M. W., Padidela, R., Plummer, L., Martin, C., Feng, B. H., Zhang, C. K., Zhou, Q. Y., Chen, H. B., Mohammadi, M., Quinton, R. & 4 othersSidis, Y., Radovick, S., Dattani, M. T. & Pitteloud, N., 2012, In : Journal of Clinical Endocrinology and Metabolism. 97, 4, p. E694-E699

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
File
2011
38 Downloads (Pure)

Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

Weegerink, N. J. D., Schraders, M., Oostrik, J., Huygen, P. L. M., Strom, T. M., Granneman, S., Pennings, R. J. E., Venselaar, H., Hoefsloot, L. H., Elting, M. W., Cremers, C. W. R. J., Admiraal, R. J. C., Kremer, H. & Kunst, H. P. M., 2011, In : Journal of the Association for Research in Otolaryngology. 12, 6, p. 753-766

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
File
2010

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Vos, Y. J., de Walle, H. E. K., Bos, K. K., Stegeman, J. A., ten Berge, A. M., Bruining, M., van Maarle, M. C., Elting, M. W., den Hollander, N. S., Hamel, B., Fortuna, A. M., Sunde, L. E. M., Stolte-Dijkstra, I., Schrander-Stumpel, C. & Hofstra, R. M. W., 2010, In : Journal of Medical Genetics. 47, 3, p. 169-175

Research output: Contribution to journalArticleAcademicpeer-review

2009

PPIB Mutations Cause Severe Osteogenesis Imperfecta

van Dijk, F. S., Nesbitt, I. M., Zwikstra, E. H., Nikkels, P. G. J., Piersma, S. R., Fratantoni, S. A., Jimenez, C. R., Huizer, M., Morsman, A. C., Cobben, J. M., van Roij, M. H. H., Elting, M. W., Verbeke, J. I. M. L., Wijnaendts, L. C. D., Shaw, N. J., Hogler, W., McKeown, C., Sistermans, E. A., Dalton, A., Meijers-Heijboer, E. J. & 1 othersPals, G., 2009, In : American journal of human genetics. 85, 4, p. 521-527

Research output: Contribution to journalArticleAcademicpeer-review