Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Dive into the research topics where Conny van Ravenswaaij-Arts is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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., 13-Mar-2025, (E-pub ahead of print) In: American Journal of Medical Genetics. Part A. 9 p., e64038.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 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 others, , 8-Aug-2024, In: American Journal of Human Genetics. 111, 8, p. 1626-1642 18 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access4 Citations (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 p., 104773.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile8 Citations (Scopus)80 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 p., 104767.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Scopus)167 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 p., 104747.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Citations (Scopus)113 Downloads (Pure)
Activities
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European journal of medical genetics (Journal)
van Ravenswaaij-Arts, C. (Guest editor)
2022 → 2023Activity: Peer-review and editorial work › Editorial work › Academic
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Final consensus meeting of the Phelan-McDermid Syndrome Guideline
van Ravenswaaij-Arts, C. (Organiser)
2022Activity: Organising and attending an event › Organising and contributing to an event › Academic
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Coördinator Consortium European guideline “Phelan-McDermid syndrome”
van Ravenswaaij-Arts, C. (Other)
2020 → 2023Activity: Other › Other research activities › Academic
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Phelan-McDermid Syndrome Foundation (PMSF) (External organisation)
van Ravenswaaij-Arts, C. (Member of board)
2020 → …Activity: Membership › Professional
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Supervisor: "Cochlear Implantation in Deaf Children with Complex Needs"
van Ravenswaaij-Arts, C. (Supervisor)
2018Activity: Examination, teaching and supervision › Examination, teaching and supervision external institution › Academic
Datasets
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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 1 of The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
Rraku, E. (Creator), Kerstjens-Frederikse, W. S. (Creator), Swertz, M. A. (Creator), Dijkhuizen, T. (Creator), Engwerda, A. (Creator) & Van Ravenswaaij-Arts, C. M. A. (Contributor), figshare, 13-Aug-2024
DOI: 10.6084/m9.figshare.26577497.v1, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_The_phenotypic_spectrum_of_terminal_and_subterminal_6p_deletions_based_on_a_social_media-derived_cohort_and_literature_review/26577497/1
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 and one more link, https://doi.org/10.5061%2Fdryad.ck70sj0.2 (show fewer)
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. 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 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
Press/Media
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Seltener Gendefekt: Vier Fragen zum CHARGE-Syndrom
08/08/2024
1 Media contribution
Press/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 Media contribution
Press/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 Media contribution
Press/Media: Expert Comment › Academic
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