Conny van Ravenswaaij-Arts

prof. dr.

Faculteit Medische Wetenschappen/UMCG, Clinical Cognitive Neuropsychiatry Research Program (CCNP)

https://orcid.org/0000-0002-8744-1305

Als u wijzigingen in Pure hebt gemaakt, zullen deze hier binnenkort zichtbaar zijn.

Netwerk

Recente externe samenwerking op landenniveau. Duik in de details door op de stippen te klikken.

118 Article
9 Review article
8 Meeting Abstract
5 Editorial
Meer

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 anderen, 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 blz.
Onderzoeksoutput › Academic › peer review
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation
van der Welle, R. E. N., Jobling, R., Burns, C., Sanza, P., van der Beek, J. A., Fasano, A., Chen, L., Zwartkruis, F. J., Zwakenberg, S., Griffin, E. F., ten Brink, C., Veenendaal, T., Liv, N., van Ravenswaaij-Arts, C. M. A., Lemmink, H. H., Pfundt, R., Blaser, S., Sepulveda, C., Lozano, A. M., Yoon, G. & 6 anderen, Santiago-Sim, T., Asensio, C. S., Caldwell, G. A., Caldwell, K. A., Chitayat, D. & Klumperman, J., 14-apr-2021, (E-pub ahead of print) In: EMBO Molecular Medicine. blz. 1-24 24 blz., 13243.
Onderzoeksoutput › Academic › peer review

Open Access
Bestand
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 blz., 103922.
Onderzoeksoutput › Academic › peer review

Open Access
Bestand

32 Downloads (Pure)
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, blz. 311-324 14 blz.
Onderzoeksoutput › Academic › peer review

Open Access
Bestand

3 Citaten (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 anderen, 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., mei-2020, In: Human Mutation. 41, 5, blz. 926-933 8 blz.
Onderzoeksoutput › Academic › peer review

1 Citaat (Scopus)

5 Other research activities
4 Membership
2 Professional or public event
1 Editorial work
Meer
- 1 Examination, teaching and supervision external institution

American Journal of Medical Genetics (Tijdschrift)
Cornelia Arts (Guest editor)
dec-2017
Activiteit: Editorial work › Academic
Coördinator Commissie richtlijnontwikkeling “Phelan-McDermid syndroom”
Cornelia Arts (Other)
2017 → 2018
Activiteit: Other research activities › Academic
Coördinator Groningen Expertisecentrum Ontwikkelingsachterstand
Cornelia Arts (Other)
2014 → …
Activiteit: Other research activities › Academic
Federatie Medisch Specialisten (FMS) (Externe Organisatie)
Cornelia Arts (Member)
2013 → 2015
Activiteit: Membership › Academic
Coordinator onderzoeksprogramma ANDDI (BCN-Brain)
Cornelia Arts (Other)
2012 → 2015
Activiteit: Other research activities › Academic

Honorary Membership
van Ravenswaaij-Arts, Conny (Recipient), jun-2016
Prijs: National/international honour › Academic
Star in CHARGE Award
van Ravenswaaij-Arts, Conny (Recipient), aug-2015
Prijs: Prize › Academic

Zorgen voor Indy
Conny Ravenswaaij-Arts, van
17/09/2020
1 Mediabijdrage
Pers / media: !!Expert Comment › Professional
Video chromosoom 6 Project
Cornelia Arts
01/08/2015
1 Mediabijdrage
Pers / media: !!Expert Comment › Popular
Interview with Conny van Ravenswaaij
Cornelia Arts
18/06/2015
1 Mediabijdrage
Pers / media: !!Expert Comment › Popular
Expertisecentra zeldzame aandoeningen: op weg naar Europees keurmerk
Cornelia Arts
01/03/2015
1 Mediabijdrage
Pers / media: !!Expert Comment › Popular

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. (Creator), XiangWei, W. (Creator), Williams, D. (Creator), Maas, S. M. (Creator), Brooks, A. S. (Creator), Mancini, G. (Creator), van de Laar, I. M. B. H. (Creator), Hagen, J. M. (Creator), Ware, T. (Creator), Webster, R. (Creator), MALONE, S. (Creator), Berkovic, S. F. (Creator), Kalnins, R. M. (Creator), Sicca, F. (Creator), Korenke, G. C. (Creator), van Ravenswaaij-Arts, C. (Creator), Hildebrand, M. S. (Creator), Mefford, H. C. (Creator), Jiang, Y. (Creator), Guerrini, R. (Creator) & Scheffer, I. E. (Creator), University of Groningen, 18-dec-2018
DOI: 10.5061/dryad.ck70sj0
Dataset