Conny van Ravenswaaij-Arts

Search results

• 2021

  DLG4-related synaptopathy: a new rare brain disorder

  Rodriguez-Palmero, A., Boerrigter, M. M., Gomez-Andres, D., Aldinger, K. A., Marcos-Alcalde, I., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A-M., Bjerregaard, V. A., Bruel, A-L., Challman, T. D., Cogne, B., Coubes, C., de Man, S. A., Denomme-Pichon, A-S., Dye, T. J. & 66 others, Elmslie, F., Feuk, L., Garcia-Minaur, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T. B., Haldeman-Englert, C. R., Haukanes, B. I., Hoyer, J., Hurst, A. C. E., Isidor, B., Soller, M. J., Kushary, S., Kvarnung, M., Landau, Y. E., Leppig, K. A., Lindstrand, A., Kleinendorst, L., MacKenzie, A., Mandrile, G., Mendelsohn, B. A., Moghadasi, S., Morton, J. E., Moutton, S., Mueller, A. J., O'Leary, M., Pacio-Miguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M. J., Ruivenkamp, C. A. L., Sarrazin, E., Savatt, J. M., Schlueter, A., Schoenewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J. T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F. T., van Bon, B., van de Burgt, I., van de Laar, I. M. B. H., van Drie, E., van Haelst, M. M., van Ravenswaaij-Arts, C. M., Verdura, E., Vitobello, A., Waldmueller, S., Whiting, S., Zweier, C., Prada, C. E., de Vries, B. B. A., Dobyns, W. B., Reiter, S. F., Gomez-Puertas, P., Pujol, A. & Tumer, Z., 17-Feb-2021, In: Genetics in Medicine. 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review
• 2020

  A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin

  McGregor-Schuerman, M., Sang, A. L. F., Bihari, S., Ramdajal, N., Suijkerbuijk, R. F. & van Ravenswaaij-Arts, C. M., Jun-2020, In: European journal of medical genetics. 63, 6, 5 p., 103922.

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

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• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  SYNAPS Study Grp & Ravenswaaij-Arts, van, C., 6-Aug-2020, In: American Journal of Human Genetics. 107, 2, p. 311-324 14 p.

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

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  2 Citations (Scopus)

  68 Downloads (Pure)

• Exome sequencing identifies the first genetic determinants of sirenomelia in humans

  Lecoquierre, F., Brehin, A-C., Coutant, S., Coursimault, J., Bazin, A., Finck, W., Benoist, G., Begorre, M., Beneteau, C., Cailliez, D., Chenal, P., De Jong, M., Degre, S., Devisme, L., Francannet, C., Gerard, B., Jeanne, C., Joubert, M., Journel, H., Laurichesse Delmas, H. & 13 others, Layet, V., Liquier, A., Mangione, R., Patrier, S., Pelluard, F., Petit, F., Tillouche, N., Van Ravenswaaij-Arts, C., Frebourg, T., Saugier-Veber, P., Gruchy, N., Nicolas, G. & Gerard, M., May-2020, In: Human Mutation. 41, 5, p. 926-933 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  1 Citation (Scopus)

• Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotype

  Zanoni, P., Steindl, K., Sengupta, D., Sticht, H., Joset, P., Baar, A., van Ravenswaaij-Arts, C. M. A., Shinawi, M., Maystadt, I., Belnap, N., Benoit, V., de Vries, B. B. A., Lacombe, D., Larson, A., Pfundt, R., Ramsey, K., Blok, L. S., Wheeler, P. G., Wevers, M. R., Gozani, O. & 1 others, Rauch, A., Dec-2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 355-356 2 p.

  Research output: Contribution to journal › Meeting Abstract › Academic

• Phenotype-genotype analysis in a large cohort of 250 individuals with a chromosome 6q deletion

  Engwerda, A., Meijer, S. E., Bouman, P., de Souza, N. F. S., Frentz, B., Flapper, B. C. T., Corsten-Janssen, N., Gerkes, E. H., Swertz, M. A., Plantinga, M., Dijkhuizen, T., Kerstjens-Frederikse, W. S. & van Ravenswaaij-Arts, C. M. A., Dec-2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 456-457 2 p.

  Research output: Contribution to journal › Meeting Abstract › Academic

• Phenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95

  Rodriguez-Palmero Seuma, A., Boerrigter, M., Mandrile, G., Pelle, A., Giorgio, E., Lindstrand, A., Johansson, M., Kvarnung, M., Everman, D., Bahrambeigi, V., MacKenzie, A., Morton, J., Ruivenkamp, C., Challman, T., Hurst, A., Hoyer, J., Elmslie, F., Dye, T., Isidor, B., Haldeman-Englert, C. & 22 others, Gomez-Andres, D., Schluter, A., de Man, S., Shieh, J., Prada, C., Moutton, S., Denomme-Pichon, A., Motti, S., Bruel, A., Mau-Them, F. T., Reiter, S., van Ravenswaaij-Arts, C., Shaw-Smith, C., Parikh, S., Aldinger, K., Lovgren, A., Rauch, A., Ross, M., Gomez-Puertas, P., de Vries, B., Pujol, A. & Tumer, Z., Dec-2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 331-332 2 p.

  Research output: Contribution to journal › Meeting Abstract › Academic

• Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

  Bever, Y. V., Brüggenwirth, H. T., Wolffenbuttel, K. P., Dessens, A. B., Groenenberg, I. A. L., Knapen, M. F. C. M., De Baere, E., Cools, M., van Ravenswaaij-Arts, C. M. A., Sikkema-Raddatz, B., Claahsen-van der Grinten, H., Kempers, M., Rinne, T., Hersmus, R., Looijenga, L. & Hannema, S. E., Sep-2020, In: JOURNAL OF MEDICAL GENETICS. 57, 9, p. 581-589 9 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

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  1 Citation (Scopus)

  46 Downloads (Pure)
• 2019

  An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry

  Penders, B., Dijk, D. R., Bocca, G., Zimmermann, L. J. I., van Ravenswaaij-Arts, C. M. A. & Gerver, W-J. M., Aug-2019, In: American Journal of Medical Genetics. Part A. 179, 8, p. 1459-1465 7 p.

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

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• Clinical Genetics Educational external assessment (EQA)-assuring improvement in the Clinical Service

  Hastings, R. H., van Ravenswaaij-Arts, C., van Asperen, C., Garavelli, L., Neilsen, M., Peterlin, B. & Writzl, K., Jul-2019, In: European Journal of Human Genetics. 27, p. 699-700 2 p.

  Research output: Contribution to journal › Meeting Abstract › Academic

• GRIN2A-related disorders: genotype and functional consequence predict phenotype

  GRIN2A Study Grp, Strehlow, V., Heyne, H. O., Vlaskamp, D. R. M., Marwick, K. F. M., Rudolf, G., De Bellescize, J., Biskup, S., Brilstra, E. H., Brouwer, O. F., Callenbach, P. M. C., Hentschel, J., Hirsch, E., Kind, P. C., Mignot, C., Platzer, K., Rump, P., Skehel, P. A., Wyllie, D. J. A., Hardingham, G. E. & 3 others, van Ravenswaaij-Arts, C. M. A., Lesca, G. & Lemke, J. R., Jan-2019, In: Brain. 142, 1, p. 80-92 13 p.

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

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  39 Citations (Scopus)

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• Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach

  Dijk, D. R., Bocca, G. & van Ravenswaaij-Arts, C. M., 2019, In: Journal of multidisciplinary healthcare. 12, p. 607-620 14 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

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  1 Citation (Scopus)

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• Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

  Deelen, P., van Dam, S., Herkert, J. C., Karjalainen, J. M., Brugge, H., Abbott, K. M., van Diemen, C. C., van der Zwaag, P. A., Gerkes, E. H., Zonneveld-Huijssoon, E., Boer-Bergsma, J. J., Folkertsma, P., Gillett, T., van der Velde, K. J., Kanninga, R., van den Akker, P. C., Jan, S. Z., Hoorntje, E. T., Te Rijdt, W. P., Vos, Y. J. & 7 others, Jongbloed, J. D. H., van Ravenswaaij-Arts, C. M. A., Sinke, R., Sikkema-Raddatz, B., Kerstjens-Frederikse, W. S., Swertz, M. A. & Franke, L., 28-Jun-2019, In: Nature Communications. 10, 1, 13 p., 2837.

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

  Open Access

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  17 Citations (Scopus)

  258 Downloads (Pure)

• Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

  Hitzert, M. M., van der Crabben, S. N., Baldewsingh, G., van Amstel, H. K. P., van den Wijngaard, A., van Ravenswaaij-Arts, C. M. A. & Zijlmans, C. W. R., 19-Dec-2019, In: Orphanet journal of rare diseases. 14, 1, 9 p., 294.

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

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  1 Citation (Scopus)

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• Neuroradiologic abnormalities in CHARGE syndrome and guidelines for cranial imaging

  de Geus, C. M., Free, R. H., Verbist, B. M., Meiners, L. C. & van Ravenswaaij-Arts, C. M. A., Jul-2019, In: European Journal of Human Genetics. 27, p. 348-349 2 p.

  Research output: Contribution to journal › Meeting Abstract › Academic

• Phenotype genotype analysis in a large cohort of 85 individuals with a terminal 6q deletion

  Engwerda, A., De Souza, N. S., Bouman, P., Flapper, B., Corsten-Janssen, N., Swertz, M., Plantinga, M., Dijkhuizen, T. & Van Ravenswaaij-Arts, C., 5-Jul-2019, In: Molecular Cytogenetics. 12, 1 p.

  Research output: Contribution to journal › Meeting Abstract › Academic

• PRRT2-related phenotypes in patients with a 16p11.2 deletion

  Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Giannini, L. A. A., Brilstra, E. H., Dijkhuizen, T., Vos, Y. J., van der Kevie-Kersemaekers, A-M. F., Knijnenburg, J., de Leeuw, N., van Minkelen, R., Ruivenkamp, C. A. L., Stegmann, A. P. A., Brouwer, O. F. & van Ravenswaaij-Arts, C. M. A., Apr-2019, In: European journal of medical genetics. 62, 4, p. 265-269 5 p.

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

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  5 Citations (Scopus)

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• 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 12 p.

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

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  25 Citations (Scopus)

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• 2018

  De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

  NIHR BioResource & Care4Rare Canada Consortium, 5-Jul-2018, In: American Journal of Human Genetics. 103, 1, p. 144-153 10 p.

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

  Open Access

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  5 Citations (Scopus)

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• De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

  Powis, Z., Petrik, I., Cohen, J. S., Escolar, D., Burton, J., van Ravenswaaij-Arts, C. M. A., Sival, D. A., Stegmann, A. P. A., Kleefstra, T., Pfundt, R., Chikarmane, R., Begtrup, A., Huether, R., Tang, S. & Shinde, D. N., May-2018, In: Clinical Genetics. 93, 5, p. 1030-1038 9 p.

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

  Open Access

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  4 Citations (Scopus)

  234 Downloads (Pure)

• Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study

  de Geus, C. M., Bergman, J. E. H., van Ravenswaaij-Arts, C. M. A. & Meiners, L. C., Oct-2018, In: American Journal of Neuroradiology. 39, 10, p. 1938-1942 5 p.

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

  Open Access

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  5 Citations (Scopus)

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• Molecular and clinical studies in 8 patients with Temple syndrome

  Gillessen-Kaesbach, G., Albrecht, B., Eggermann, T., Elbracht, M., Mitter, D., Morlot, S., van Ravenswaaij-Arts, C. M. A., Schulz, S., Strobl-Wildemann, G., Buiting, K. & Beygo, J., Jun-2018, In: Clinical Genetics. 93, 6, p. 1179-1188 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  12 Citations (Scopus)

• Sema3a plays a role in the pathogenesis of CHARGE syndrome

  Ufartes, R., Schwenty-Lara, J., Freese, L., Neuhofer, C., Möller, J., Wehner, P., van Ravenswaaij-Arts, C. M. A., Wong, M. T. Y., Schanze, I., Tzschach, A., Bartsch, O., Borchers, A. & Pauli, S., 15-Apr-2018, In: Human Molecular Genetics. 27, 8, p. 1343-1352 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  9 Citations (Scopus)

• SYNGAP1 Developmental and Epileptic Encephalopathy: Delineating the Phenotypic Spectrum

  Vlaskamp, D. R. M., Shaw, B. J., Burgess, R., Mei, D., Montomoli, M., Xie, H., Meyers, C. T., Mark, B., Williams, D., Maas, S. M., Brooks, A. S., Verheijen-Mancini, G. M. S., de Graaf-Van de Laar, I. M. B. H., van Hagen, A. M., Ware, T., Webster, R., Malone, S., Berkovic, S. F., Kalnins, R. M., van Ravenswaaij-Arts, C. M. A. & 5 others, Hildebrand, M. S., Mefford, H. C., Jiang, Y., Guerrini, R. & Scheffer, I. E., Dec-2018, In: Epilepsia. 59, p. S45 1 p.

  Research output: Contribution to journal › Meeting Abstract › Academic

• The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

  Engwerda, A., Frentz, B., den Ouden, A. L., Flapper, B. C. T., Swertz, M. A., Gerkes, E. H., Plantinga, M., Dijkhuizen, T. & van Ravenswaaij-Arts, C. M. A., Oct-2018, In: European Journal of Human Genetics. 26, 10, p. 1478-1489 12 p.

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

  Open Access

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  10 Citations (Scopus)

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• Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

  van der Schoot, V., de Munnik, S., Venselaar, H., Elting, M., Mancini, G. M. S., Ravenswaaij-Arts, C. M. A., Anderlid, B-M., Brunner, H. G. & Stevens, S. J. C., May-2018, In: Molecular genetics & genomic medicine. 6, 3, p. 393-400 8 p.

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

  Open Access

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  6 Citations (Scopus)

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• 2017

  A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs

  Van den Heuvel, E. R., Zwanenburg, R. J. & Van Ravenswaaij-Arts, C. M., Apr-2017, In: Statistical Methods in Medical Research. 26, 2, p. 766-775 10 p.

  Research output: Contribution to journal › Review article › peer-review
  3 Citations (Scopus)

• Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region

  Donovan, A. P. A., Yu, T., Ellegood, J., Riegman, K. L. H., de Geus, C., van Ravenswaaij-Arts, C., Fernandes, C., Lerch, J. P. & Basson, M. A., 4-Oct-2017, In: Frontiers in neuroanatomy. 11, 9 p., 86.

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

  Open Access

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  2 Citations (Scopus)

  232 Downloads (Pure)

• Chromosomal abnormalities in 1663 infertile men with azoospermia: The clinical consequences

  Donker, R. B., Vloeberghs, V., Groen, H., Tournaye, H., van Ravenswaaij-Arts, C. M. A. & Land, J. A., 1-Dec-2017, In: Human Reproduction. 32, 12, p. 2574-2580 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  9 Citations (Scopus)

• Copy number variation in a hospital-based cohort of children with epilepsy

  Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Giannini, L. A. A., Dijkhuizen, T., Brouwer, O. F. & van Ravenswaaij-Arts, C. M. A., Jun-2017, In: epilepsia open. 2, 2, p. 244-254 11 p.

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

  Open Access

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  6 Citations (Scopus)

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• Developing a CHARGE Syndrome Checklist: Health Supervision Across the Lifespan (From Head to Toe)

  Trider, C-L., Arra-Robar, A., Ravenswaaij-Arts, van, C. & Blake, K., Mar-2017, In: American Journal of Medical Genetics. Part A. 173, 3, p. 684-691 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  17 Citations (Scopus)

• Guidelines in CHARGE syndrome and the missing link: Cranial imaging

  de Geus, C. M., Free, R. H., Verbist, B. M., Sival, D. A., Blake, K. D., Meiners, L. C. & Ravenswaaij-Arts, C. M. A. V., Dec-2017, In: American Journal of Medical Genetics. Part C-Seminars in Medical Genetics. 175, 4, p. 450-464 15 p.

  Research output: Contribution to journal › Review article › peer-review

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  14 Citations (Scopus)

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• Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

  Novara, F., Rinaldi, B., Sisodiya, S. M., Coppola, A., Giglio, S., Stanzial, F., Benedicenti, F., Donaldson, A., Andrieux, J., Stapleton, R., Weber, A., Reho, P., van Ravenswaaij-Arts, C., Kerstjens-Frederikse, W. S., Vermeesch, J. R., Devriendt, K., Bacino, C. A., Delahaye, A., Maas, S. M., Iolascon, A. & 1 others, Zuffardi, O., Jun-2017, In: European Journal of Human Genetics. 25, 6, p. 694-701 8 p.

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

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  13 Citations (Scopus)

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• Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces

  Sinnige, P. F., van Rauenswaaij-Arts, C. M. A., Caruso, P., Lin, A. E., Boon, M., Rahikkala, E., Callewaert, B. & Meiners, L. C., Nov-2017, In: European Journal of Paediatric Neurology. 21, 6, p. 912-920 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  3 Citations (Scopus)

• New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries

  van Ravenswaaij-Arts, C. & Martin, D. M., Dec-2017, In: American Journal of Medical Genetics. Part C-Seminars in Medical Genetics. 175, 4, p. 397-406 10 p.

  Research output: Contribution to journal › Editorial › Academic › peer-review
  15 Citations (Scopus)

• Rapid Targeted Genomics in Critically Ill Newborns

  van Diemen, C. C., Kerstjens-Frederikse, W. S., Bergman, K. A., de Koning, T. J., Sikkema-Raddatz, B., van der Velde, J. K., Abbott, K. M., Herkert, J. C., Löhner, K., Rump, P., Meems-Veldhuis, M. T., Neerincx, P. B. T., Jongbloed, J. D. H., van Ravenswaaij-Arts, C. M., Swertz, M. A., Sinke, R. J., van Langen, I. M. & Wijmenga, C., Oct-2017, In: Pediatrics. 140, 4, 11 p., 20162854.

  Research output: Contribution to journal › Article › Academic › peer-review
  42 Citations (Scopus)

• Support for the Diagnosis of CHARGE Syndrome

  van Ravenswaaij-Arts, C. M. A., Blake, K. & Martin, D. M., Jun-2017, In: JAMA Otolaryngology. Head & Neck Surgery. 143, 6, p. 634-635 2 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M-A., Abdul-Rahman, O. A., Aberg, E., Adley, R., Alcaraz-Estrada, S. L., Alkuraya, F. S., An, Y., Anderson, M-A., Antolik, C., Anyane-Yeboa, K., Atkin, J. F. & 129 others, Bartell, T., Bernstein, J. A., Beyer, E., Blumenthal, I., Bongers, E. M. H. F., Brilstra, E. H., Brown, C. W., Bruggenwirth, H. T., Callewaert, B., Chiang, C., Corning, K., Cox, H., Cuppen, E., Currall, B. B., Cushing, T., David, D., Deardorff, M. A., Dheedene, A., D'Hooghe, M., de Vries, B. B. A., Earl, D. L., Ferguson, H. L., Fisher, H., FitzPatrick, D. R., Gerrol, P., Giachino, D., Glessner, J. T., Gliem, T., Grady, M., Graham, B. H., Griffis, C., Gripp, K. W., Gropman, A. L., Hanson-Kahn, A., Harris, D. J., Hayden, M. A., Hill, R., Hochstenbach, R., Hoffman, J. D., Hopkin, R. J., Hubshman, M. W., Innes, A. M., Irons, M., Irving, M., Jacobsen, J. C., Janssens, S., Jewett, T., Johnson, J. P., Jongmans, M. C., Kahler, S. G., Koolen, D. A., Korzelius, J., Kroisel, P. M., Lacassie, Y., Lawless, W., Lemyre, E., Leppig, K., Levin, A. V., Li, H., Li, H., Liao, E. C., Lim, C., Lose, E. J., Lucente, D., Macera, M. J., Manavalan, P., Mandrile, G., Marcelis, C. L., Margolin, L., Mason, T., Masser-Frye, D., McClellan, M. W., Mendoza, C. J. Z., Menten, B., Middelkamp, S., Mikami, L. R., Moe, E., Mohammed, S., Mononen, T., Mortenson, M. E., Moya, G., Nieuwint, A. W., Ordulu, Z., Parkash, S., Pauker, S. P., Pereira, S., Perrin, D., Phelan, K., Pina Aguilar, R. E., Poddighe, P. J., Pregno, G., Raskin, S., Reis, L., Rhead, W., Rita, D., Renkens, I., Roelens, F., Ruliera, J., Rump, P., Schilit, S. L. P., Shaheen, R., Sparkes, R., Spiegel, E., Stevens, B., Stone, M. R., Tagoe, J., Thakuria, J. V., van Bon, B. W., van de Kamp, J., van Der Burgt, I., van Essen, T., van Ravenswaaij-Arts, C. M., van Roosmalen, M. J., Vergult, S., Volker-Touw, C. M. L., Warburton, D. P., Waterman, M. J., Wiley, S., Wilson, A., Yerena-de Vega, M. D. L. C. A., Zori, R. T., Levy, B., Brunner, H. G., de Leeuw, N., Kloosterman, W. P., Thorland, E. C., Morton, C. C., Gusella, J. F. & Talkowski, M. E., Jan-2017, In: Nature Genetics. 49, 1, p. 36-45 10 p.

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

  Open Access
  119 Citations (Scopus)

• The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

  Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., Ruivenkamp, C. A. L., Mancias, P., Northrup, H., Kukolich, M. K., Weiss, M. M., van Ravenswaaij-Arts, C. M. A., Mathijssen, I. B., Levesque, S. & 19 others, Meeks, N., Rosenfeld, J. A., Lemke, D., Hamosh, A., Lewis, S. K., Race, S., Stewart, L. L., Hay, B., Lewis, A. M., Guerreiro, R. L., Bras, J. T., Martins, M. P., Derksen-Lubsen, G., Peeters, E., Stumpel, C., Stegmann, S., Bok, L. A., Santen, G. W. E. & Schaaf, C. P., Jan-2017, In: Genetics in Medicine. 19, 1, p. 45-52 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review
• 2016

  Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts

  Wong, M. T. Y., van Ravenswaaij-Arts, C. M. A., Munns, C. F., Hsu, P., Mehr, S. & Bocca, G., Sep-2016, In: The Journal of Pediatrics. 176, p. 150-155 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  3 Citations (Scopus)

• Cerebellum Abnormalities, the 5th C in CHARGE Syndrome

  Wong, T., de Geus, C., Meiners, L. C., Sival, D., Yu, T., Basson, M. A. & Arts, C., Apr-2016, p. 862-863. 2 p.

  Research output: Contribution to conference › Abstract › Academic
  2 Citations (Scopus)

• Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity

  Corsten-Janssen, N., van Ravenswaaij-Arts, C. M. A. & Kapusta, L., Sep-2016, In: International journal of cardiology. Heart & vasculature. 12, p. 21-25 5 p.

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

  Open Access

  File
  8 Citations (Scopus)

  209 Downloads (Pure)

• CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype

  Menke, L. A., van Belzen, M. J., Alders, M., Cristofoli, F., Ehmke, N., Fergelot, P., Foster, A., Gerkes, E. H., Hoffer, M. J. V., Horn, D., Kant, S. G., Lacombe, D., Leon, E., Maas, S. M., Melis, D., Muto, V., Park, S-M., Peeters, H., Peters, D. J. M., Pfundt, R. & 4 others, van Ravenswaaij-Arts, C. M. A., Tartaglia, M., Hennekam, R. C. M. & DDD Study, Oct-2016, In: American Journal of Medical Genetics. Part A. 170, 10, p. 2681-2693 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  17 Citations (Scopus)

• CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery

  Vesseur, A. C., Verbist, B. M., Westerlaan, H. E., Kloostra, F. J. J., Admiraal, R. J. C., van Ravenswaaij-Arts, C. M. A., Free, R. H. & Mylanus, E. A. M., Dec-2016, In: European Archives of Oto-Rhino-Laryngology. 273, 12, p. 4225-4240 16 p.

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

  Open Access

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  18 Citations (Scopus)

  280 Downloads (Pure)

• De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

  Reijnders, M. R. F., Zachariadis, V., Latour, B., Jolly, L., Mancini, G. M., Pfundt, R., Wu, K. M., van Ravenswaaij-Arts, C. M. A., Veenstra-Knol, H. E., Anderlid, B-M. M., Wood, S. A., Cheung, S. W., Barnicoat, A., Probst, F., Magoulas, P., Brooks, A. S., Malmgren, H., Harila-Saari, A., Marcelis, C. M., Vreeburg, M. & 18 others, Hobson, E., Sutton, V. R., Stark, Z., Vogt, J., Cooper, N., Lim, J. Y., Price, S., Lai, A. H. M., Domingo, D., Reversade, B., Gecz, J., Gilissen, C., Brunner, H. G., Kini, U., Roepman, R., Nordgren, A., Kleefstra, T. & DDD Study, 4-Feb-2016, In: American Journal of Human Genetics. 98, 2, p. 373-381 9 p.

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

  Open Access
  45 Citations (Scopus)

  291 Downloads (Pure)

• Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: A systematic and prospective study in 34 children

  Zwanenburg, R. J., Ruiter, S. A. J., van den Heuvel, E. R., Flapper, B. C. T. & Van Ravenswaaij-Arts, C. M. A., 26-Apr-2016, In: Journal of neurodevelopmental disorders. 8, 12 p., 16.

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

  Open Access

  File
  30 Citations (Scopus)

  281 Downloads (Pure)

• Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

  Eggers, S., Sadedin, S., van den Bergen, J. A., Robevska, G., Ohnesorg, T., Hewitt, J., Lambeth, L., Bouty, A., Knarston, I. M., Tiong Yang Tan, Cameron, F., Werther, G., Hutson, J., O'Connell, M., Grover, S. R., Heloury, Y., Zacharin, M., Bergman, P., Kimber, C., Brown, J. & 53 others, Webb, N., Hunter, M. F., Srinivasan, S., Titmuss, A., Verge, C. F., Mowat, D., Smith, G., Smith, J., Ewans, L., Shalhoub, C., Crock, P., Cowell, C., Leong, G. M., Ono, M., Lafferty, A. R., Huynh, T., Visser, U., Choong, C. S., McKenzie, F., Pachter, N., Thompson, E. M., Couper, J., Baxendale, A., Gecz, J., Wheeler, B. J., Jefferies, C., MacKenzie, K., Hofman, P., Carter, P., King, R. I., Krausz, C., van Ravenswaaij-Arts, C. M. A., Looijenga, L., Drop, S., Riedl, S., Cools, M., Dawson, A., Juniarto, A. Z., Khadilkar, V., Khadilkar, A., Bhatia, V., Vu Chi Dung, N. V., Atta, I., Raza, J., Nguyen Thi Diem Chi, Tran Kiem Hao, Harley, V., Koopman, P., Warne, G., Faradz, S., Oshlack, A., Ayers, K. L. & Sinclair, A. H., 29-Nov-2016, In: Genome Biology. 17, 1, 21 p., 243.

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

  Open Access

  File
  123 Citations (Scopus)

  576 Downloads (Pure)

• Duplication 2p25 in a Child with Clinical Features of CHARGE Syndrome

  Sperry, E. D., Schuette, J. L., van Ravenswaaij-Arts, C. M. A., Green, G. E. & Martin, D. M., May-2016, In: American Journal of Medical Genetics. Part A. 170, 5, p. 1148-1154 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  4 Citations (Scopus)

• Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

  Witteveen, J. S., Willemsen, M. H., Dombroski, T. C. D., van Bakel, N. H. M., Nillesen, W. M., van Hulten, J. A., Jansen, E. J. R., Verkaik, D., Veenstra-Knol, H. E., van Ravenswaaij-Arts, C. M. A., Wassink-Ruiter, J. S. K., Vincent, M., David, A., Le Caignec, C., Schieving, J., Gilissen, C., Foulds, N., Rump, P., Strom, T., Cremer, K. & 9 others, Zink, A. M., Engels, H., de Munnik, S. A., Visser, J. E., Brunner, H. G., Martens, G. J. M., Pfundt, R., Kleefstra, T. & Kolk, S. M., Aug-2016, In: Nature Genetics. 48, 8, p. 877-887 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  36 Citations (Scopus)

• Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy

  Vlaskamp, D. R. M., Rump, P., Callenbach, P. M. C., Vos, Y. J., Sikkema-Raddatz, B., van Ravenswaaij-Arts, C. M. A. & Brouwer, O. F., May-2016, In: European Journal of Paediatric Neurology. 20, 3, p. 489-492 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  29 Citations (Scopus)