Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
Persoonlijk profiel
Expertise gerelateerd aan duurzame ontwikkelingsdoelstellingen van de VN
In 2015 stemden de VN-lidstaten in met 17 wereldwijde duurzame ontwikkelingsdoelstellingen (Sustainable Development Goals, SDG's) om armoede te beëindigen, de planeet te beschermen en voor iedereen welvaart te garanderen. Het werk van deze persoon draagt bij aan de volgende duurzame ontwikkelingsdoelstelling(en):
Vingerafdruk
Verdiep u in de onderzoeksgebieden waarop Conny van Ravenswaaij-Arts actief is. Deze onderwerplabels komen uit het werk van deze persoon. Samen vormen ze een unieke vingerafdruk.
- 1 Soortgelijke profielen
Samenwerkingen en hoofdonderzoeksgebieden uit de afgelopen vijf jaar
Recente externe samenwerking op landen-/regioniveau. Duik in de details door op de stippen te klikken of
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Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views
Rraku, E., Engwerda, A., Medina, T. D., Swertz, M. A., Johansson, L. F., van Ravenswaaij-Arts, C. M. A. & Christiaans, I., jul.-2025, In: American Journal of Medical Genetics. Part A. 197, 7, 9 blz., e64038.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand5 Downloads (Pure) -
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
Rots, D., Choufani, S., Faundes, V., Dingemans, A. J. M., Joss, S., Foulds, N., Jones, E. A., Stewart, S., Vasudevan, P., Dabir, T., Park, S.-M., Jewell, R., Brown, N., Pais, L., Jacquemont, S., Jizi, K., Ravenswaaij-Arts, C. M. A. V., Kroes, H. Y., Stumpel, C. T. R. M. & Ockeloen, C. W. & 84 anderen, , 8-aug.-2024, In: American Journal of Human Genetics. 111, 8, blz. 1626-1642 18 blz.Onderzoeksoutput: Article › Academic › peer review
Open Access5 Citaten (Scopus) -
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22
Koza, S. A., Tabet, A. C., Bonaglia, M. C., Andres, S., Anderlid, B. M., Aten, E., Stiefsohn, D., the European Phelan-McDermid syndrome consortium, Evans, D. G., van Ravenswaaij-Arts, C. M. A. & Kant, S. G., jul.-2023, In: European journal of medical genetics. 66, 7, 8 blz., 104773.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand9 Citaten (Scopus)87 Downloads (Pure) -
Consensus recommendations on lymphedema in Phelan-McDermid syndrome
the European Phelan-McDermid syndrome consortium, Damstra, R. J., Vignes, S., Ravenswaaij-Arts, C. V. & Mansour, S., jun.-2023, In: European journal of medical genetics. 66, 6, 4 blz., 104767.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand5 Citaten (Scopus)177 Downloads (Pure) -
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
ERN ITHACA Guideline Working Group, European Phelan-McDermid syndrome guideline consortium, van Eeghen, A. M., Stemkens, D., Fernández-Fructuoso, J. R., Maruani, A., Hadzsiev, K. & van Balkom, I. D. C., jul.-2023, In: European journal of medical genetics. 66, 7, 9 blz., 104747.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand7 Citaten (Scopus)131 Downloads (Pure)
Activiteiten
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European journal of medical genetics (Tijdschrift)
van Ravenswaaij-Arts, C. (Guest editor)
2022 → 2023Activiteit: Editorial work › Academic
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Final consensus meeting of the Phelan-McDermid Syndrome Guideline
van Ravenswaaij-Arts, C. (Organiser)
2022Activiteit: Organising and contributing to an event › Academic
Bestand -
Phelan-McDermid Syndrome Foundation (PMSF) (Externe Organisatie)
van Ravenswaaij-Arts, C. (Member of board)
2020 → …Activiteit: Membership › Professional
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Coördinator Consortium European guideline “Phelan-McDermid syndrome”
van Ravenswaaij-Arts, C. (Other)
2020 → 2023Activiteit: Other research activities › Academic
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European Reference Network (ERN) ITHACA (Externe Organisatie)
van Ravenswaaij-Arts, C. (Member of board)
2018 → …Activiteit: Membership › Professional
Datasets
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Additional file 2: Table S1. of Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children
Zwanenburg, R. J. (Contributor), Ruiter, S. A. J. (Contributor), Van Den Heuvel, E. R. (Contributor), Flapper, B. C. T. (Contributor) & Van Ravenswaaij-Arts, C. M. A. (Contributor), University of Groningen, 15-dec.-2016
DOI: 10.6084/m9.figshare.c.3631301_d1.v1, https://doi.org/10.6084%2Fm9.figshare.c.3631301_d1.v1
Dataset
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Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
Eggers, S. (Contributor), Sadedin, S. (Contributor), Bouty, A. (Contributor), Riedl, S. (Contributor), Webb, N. (Contributor), Looijenga, L. (Contributor), Grover, S. R. (Contributor), Bhatia, V. (Contributor), Hao, T. K. (Contributor), Koopman, P. (Contributor), Shalhoub, C. (Contributor), thi Diem Chi, N. (Contributor), Lambeth, L. (Contributor), Thompson, E. M. (Contributor), Faradz, S. (Contributor), Hutson, J. (Contributor), Carter, P. (Contributor), Khadilkar, V. (Contributor), Warne, G. (Contributor), Kimber, C. (Contributor), Srinivasan, S. (Contributor), Dũng, V. C. (Contributor), Harley, V. (Contributor), Cools, M. (Contributor), Hofman, P. (Contributor), Titmuss, A. (Contributor), Ewans, L. (Contributor), Tan, T. Y. (Contributor), Pachter, N. (Contributor), Krausz, C. (Contributor), O'Connell, M. (Contributor), Drop, S. (Contributor), Crock, P. (Contributor), Brown, J. (Contributor), Knarston, I. M. (Contributor), Zacharin, M. (Contributor), Robevska, G. (Contributor), Visser, U. (Contributor), Heloury, Y. (Contributor), Choong, C. S. (Contributor), Verge, C. F. (Contributor), King, R. I. (Contributor), Atta, I. (Contributor), Khadilkar, A. (Contributor), Ohnesorg, T. (Contributor), Dawson, A. (Contributor), Smith, J. (Contributor), Oshlack, A. (Contributor), Couper, J. (Contributor), Cowell, C. (Contributor), Mowat, D. (Contributor), Gecz, J. (Contributor), Smith, G. (Contributor), Raza, J. (Contributor), van Ravenswaaij-Arts, C. M. A. (Contributor), Bergman, P. (Contributor), Huynh, T. (Contributor), Hunter, M. F. (Contributor), Hewitt, J. (Contributor), McKenzie, F. (Contributor), van den Bergen, J. A. (Contributor), Cameron, F. (Contributor), Leong, G. (Contributor), Juniarto, A. Z. (Contributor), Werther, G. (Contributor), Wheeler, B. J. (Contributor), Lafferty, A. R. (Contributor), MacKenzie, K. (Contributor), Ono, M. (Contributor), Jefferies, C. (Contributor), Baxendale, A. (Contributor), Ayers, K. L. (Creator) & Sinclair, A. H. (Creator), University of Groningen, 14-dec.-2016
DOI: 10.6084/m9.figshare.c.3600380_d2.v1, https://doi.org/10.6084%2Fm9.figshare.c.3600380_d2.v1
Dataset
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Additional file 2: Table S1. of Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children
Zwanenburg, R. (Contributor), Ruiter, S. A. J. (Creator), Van Den Heuvel, E. R. (Contributor), Flapper, B. C. T. (Contributor) & Van Ravenswaaij-Arts, C. M. A. (Contributor), figshare, 26-apr.-2016
DOI: 10.6084/m9.figshare.c.3631301_d1
Dataset
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Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
Eggers, S. (Creator), Sadedin, S. (Creator), van den Bergen, J. A. (Contributor), Robevska, G. (Creator), Ohnesorg, T. (Creator), Hewitt, J. (Creator), Lambeth, L. (Creator), Bouty, A. (Creator), Knarston, I. M. (Creator), Tan, T. Y. (Contributor), Cameron, F. (Creator), Werther, G. (Creator), Hutson, J. (Creator), O'Connell, M. (Contributor), Grover, S. R. (Creator), Heloury, Y. (Creator), Zacharin, M. (Creator), Bergman, P. (Creator), Kimber, C. (Creator), Brown, J. (Creator), Webb, N. (Creator), Hunter, M. F. (Creator), Srinivasan, S. (Creator), Titmuss, A. (Creator), Verge, C. F. (Creator), Mowat, D. (Creator), Smith, G. (Creator), Smith, J. (Creator), Ewans, L. (Creator), Shalhoub, C. (Creator), Crock, P. (Creator), Cowell, C. (Creator), Leong, G. (Creator), Ono, M. (Contributor), Lafferty, A. R. (Creator), Huynh, T. (Creator), Visser, U. (Creator), Choong, C. S. (Creator), McKenzie, F. (Creator), Pachter, N. (Creator), Thompson, E. M. (Creator), Couper, J. (Creator), Baxendale, A. (Creator), Gecz, J. (Creator), Wheeler, B. J. (Creator), Jefferies, C. (Creator), MacKenzie, K. (Creator), Hofman, P. (Creator), Carter, P. (Creator), King, R. I. (Creator), Krausz, C. (Creator), van Ravenswaaij-Arts, C. M. A. (Contributor), Looijenga, L. (Creator), Drop, S. (Creator), Riedl, S. (Creator), Cools, M. (Creator), Dawson, A. (Creator), Juniarto, A. Z. (Contributor), Khadilkar, V. (Creator), Khadilkar, A. (Creator), Bhatia, V. (Contributor), Dũng, V. C. (Contributor), Atta, I. (Contributor), Raza, J. (Creator), thi Diem Chi, N. (Contributor), Hao, T. K. (Creator), Harley, V. (Creator), Koopman, P. (Creator), Warne, G. (Creator), Faradz, S. (Creator), Oshlack, A. (Creator), Ayers, K. L. (Creator) & Sinclair, A. H. (Creator), figshare, 29-nov.-2016
DOI: 10.6084/m9.figshare.c.3600380_d2
Dataset
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Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy
Vlaskamp, D. (Creator), Shaw, B. J. (Creator), Burgess, R. (Creator), Mei, D. (Creator), Montomoli, M. (Creator), Xie, H. (Creator), Myers, C. T. (Creator), Bennett, M. F. (Creator), Xiangwei, W. (Contributor), Williams, D. (Creator), Maas, S. M. (Creator), Brooks, A. S. (Creator), Mancini, G. M. S. (Creator), Van De Laar, I. M. B. H. (Creator), Van Hagen, J. M. (Creator), Ware, T. L. (Creator), Webster, R. I. (Creator), Malone, S. (Creator), Berkovic, S. F. (Creator), Kalnins, R. M. (Creator), Sicca, F. (Creator), Korenke, G. C. (Creator), Van Ravenswaaij-Arts, C. M. A. (Creator), Hildebrand, M. S. (Creator), Mefford, H. C. (Creator), Jiang, Y. (Creator), Guerrini, R. (Creator) & Scheffer, I. E. (Creator), Dryad Digital Repository, 18-dec.-2018
DOI: 10.5061/dryad.ck70sj0.1, https://datadryad.org/resource/doi:10.5061/dryad.ck70sj0.1 en nog één link, https://doi.org/10.5061%2Fdryad.ck70sj0.2 (minder tonen)
Dataset
Knipsels
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Seltener Gendefekt: Vier Fragen zum CHARGE-Syndrom
08/08/2024
1 Mediabijdrage
Pers / media: Expert Comment › Popular
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Podcast: Convos with dr. Kate: Dr. Conny van Ravenswaaij - European Phelan-McDermid Syndrome Consortium
22/08/2023
1 Mediabijdrage
Pers / media: Expert Comment › Professional
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UMCGesprekken #8 Geen geld en geen patiënten voor onderzoek? Samen lukt het wel.
05/05/2023
1 Mediabijdrage
Pers / media: Expert Comment › Academic
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