Renske Oegema

View Scopus Profile

Renske Oegema, MSc

dr.

 https://orcid.org/0000-0002-7146-617X
    20102024

    Research activity per year

    Search results

    • 2024

      Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

      Werren, E. A., Peirent, E. R., Jantti, H., Guxholli, A., Srivastava, K. R., Orenstein, N., Narayanan, V., Wiszniewski, W., Dawidziuk, M., Gawlinski, P., Umair, M., Khan, A., Khan, S. N., Geneviève, D., Lehalle, D., van Gassen, K. L. I., Giltay, J. C., Oegema, R., van Jaarsveld, R. H., Rafiullah, R., & 10 othersRappold, G. A., Rabin, R., Pappas, J. G., Wheeler, M. M., Bamshad, M. J., Tsan, Y-C., Johnson, M. B., Keegan, C. E., Srivastava, A. & Bielas, S. L., 30 May 2024, In: Cell death & disease. 15, 5, 379.

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

      Open Access
      File

    • Brain malformations

      Oegema, R. & Lequin, M., 2024, Neurogenetics for the Practitioner. Pastores, G. M. (ed.). Elsevier, p. 399-419 21 p.

      Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

    • Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

      Kalm, T., Schob, C., Völler, H., Gardeitchik, T., Gilissen, C., Pfundt, R., Klöckner, C., Platzer, K., Klabunde-Cherwon, A., Ries, M., Syrbe, S., Beccaria, F., Madia, F., Scala, M., Zara, F., Hofstede, F., Simon, M. E. H., van Jaarsveld, R. H., Oegema, R., van Gassen, K. L. I., & 40 othersHolwerda, S. J. B., Barakat, T. S., Bouman, A., van Slegtenhorst, M., Álvarez, S., Fernández-Jaén, A., Porta, J., Accogli, A., Mancardi, M. M., Striano, P., Iacomino, M., Chae, J-H., Jang, S., Kim, S. Y., Chitayat, D., Mercimek-Andrews, S., Depienne, C., Kampmeier, A., Kuechler, A., Surowy, H., Bertini, E. S., Radio, F. C., Mancini, C., Pizzi, S., Tartaglia, M., Gauthier, L., Genevieve, D., Tharreau, M., Azoulay, N., Zaks-Hoffer, G., Gilad, N. K., Orenstein, N., Bernard, G., Thiffault, I., Denecke, J., Herget, T., Kortüm, F., Kubisch, C., Bähring, R. & Kindler, S., 6 Jun 2024, In: American Journal of Human Genetics. 111, 6, p. 1206-1221 16 p.

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

      Open Access
      File

    • GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

      Lesmann, H., Hustinx, A., Moosa, S., Klinkhammer, H., Marchi, E., Caro, P., Abdelrazek, I. M., Pantel, J. T., Hagen, M. T., Thong, M-K., Binti Mazlan, R. A., Tae, S. K., Kamphans, T., Meiswinkel, W., Li, J-M., Javanmardi, B., Knaus, A., Uwineza, A., Knopp, C., Tkemaladze, T., & 30 othersElbracht, M., Mattern, L., Jamra, R. A., Velmans, C., Strehlow, V., Jacob, M., Peron, A., Dias, C., Nunes, B. C., Vilella, T., Pinheiro, I. F., Kim, C. A., Melaragno, M. I., Weiland, H., Kaptain, S., Chwiałkowska, K., Kwasniewski, M., Saad, R., Wiethoff, S., Goel, H., Tang, C., Hau, A., Barakat, T. S., Panek, P., Nabil, A., Suh, J., Braun, F., Gomy, I., Averdunk, L. & Oegema, R., 10 Jun 2024, Research Square, 51 p. (Research square).

      Research output: Working paper › Preprint › Academic

      File

    • Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

      Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., Deb, W., Vignard, V., Studencka-Turski, M., Besnard, T., Hajdukowicz, A. M., Thiel, F., Möller, S., Florenceau, L., Cuinat, S., Marsac, S., & 111 othersWentzensen, I., Tuttle, A., Forster, C., Striesow, J., Golnik, R., Ortiz, D., Jenkins, L., Rosenfeld, J. A., Ziegler, A., Houdayer, C., Bonneau, D., Torti, E., Begtrup, A., Monaghan, K. G., Mullegama, S. V., Volker-Touw, C. M. L. N., van Gassen, K. L. I., Oegema, R., de Pagter, M., Steindl, K., Rauch, A., Ivanovski, I., McDonald, K., Boothe, E., Dauber, A., Baker, J., Fabie, N. A. V., Bernier, R. A., Turner, T. N., Srivastava, S., Dies, K. A., Swanson, L., Costin, C., Jobling, R. K., Pappas, J., Rabin, R., Niyazov, D., Tsai, A. C-H., Kovak, K., Beck, D. B., Malicdan, M., Adams, D. R., Wolfe, L., Ganetzky, R. D., Muraresku, C., Babikyan, D., Sedláček, Z., Hančárová, M., Timberlake, A. T., Al Saif, H., Nestler, B., King, K., Hajianpour, M. J., Costain, G., Prendergast, DA., Li, C., Geneviève, D., Vitobello, A., Sorlin, A., Philippe, C., Harel, T., Toker, O., Sabir, A., Lim, D., Hamilton, M., Bryson, L., Cleary, E., Weber, S., Hoffman, T. L., Cueto-González, A. M., Tizzano, E. F., Gómez-Andrés, D., Codina-Solà, M., Ververi, A., Pavlidou, E., Lambropoulos, A., Garganis, K., Rio, M., Levy, J., Jurgensmeyer, S., McRae, A. M., Lessard, M. K., D'Agostino, M. D., De Bie, I., Wegler, M., Jamra, R. A., Kamphausen, S. B., Bothe, V., Busch, L. M., Völker, U., Hammer, E., Wende, K., Cogné, B., Isidor, B., Meiler, J., Bosc-Rosati, A., Marcoux, J., Bousquet, M-P., Poschmann, J., Laumonnier, F., Hildebrand, P. W., Eichler, E. E., McWalter, K., Krawitz, P. M., Droit, A., Elgersma, Y., Grabrucker, A. M., Bolduc, F. V., Bézieau, S., Ebstein, F. & Krüger, E., 26 Jan 2024, medRxiv.

      Research output: Working paper › Preprint › Academic

    • 2023

      CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

      Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., Stegmann, A. P., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E. R., Zamuner, S., Abriata, L. A., & 65 othersKunnathully, V., Moeller, B. E., Vocat, A., Rommelaere, S., Bocquete, J-P., Ruchti, E., Limoni, G., Van Campenhoudt, M., Bourgeat, S., Henklein, P., Gilissen, C., van Bon, B. W., Pfundt, R., Willemsen, M. H., Schieving, J. H., Leonardi, E., Soli, F., Murgia, A., Guo, H., Zhang, Q., Xia, K., Fagerberg, C. R., Beier, C. P., Larsen, M. J., Valenzuela, I., Fernández-Álvarez, P., Xiong, S., Śmigiel, R., López-González, V., Armengol, L., Morleo, M., Selicorni, A., Torella, A., Blyth, M., Cooper, N. S., Wilson, V., Oegema, R., Herenger, Y., Garde, A., Bruel, A-L., Tran Mau-Them, F., Maddocks, A. B., Bain, J. M., Bhat, M. A., Costain, G., Kannu, P., Marwaha, A., Champaigne, N. L., Friez, M. J., Richardson, E. B., Gowda, V. K., Srinivasan, V. M., Gupta, Y., Lim, T. Y., Sanna-Cherchi, S., Lemaitre, B., Yamaji, T., Hanada, K., Burke, J. E., Jakšić, A. M., McCabe, B. D., De Los Rios, P., Hornemann, T., D'Angelo, G. & Gennarino, V. A., 15 May 2023, In: Journal of Clinical Investigation. 133, 10, e165019.

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

      Open Access
      File
      11 Downloads (Pure)

    • Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

      van Jaarsveld, R. H., Reilly, J., Cornips, M-C., Hadders, M. A., Agolini, E., Ahimaz, P., Anyane-Yeboa, K., Bellanger, S. A., van Binsbergen, E., van den Boogaard, M-J., Brischoux-Boucher, E., Caylor, R. C., Ciolfi, A., van Essen, T. A. J., Fontana, P., Hopman, S., Iascone, M., Javier, M. M., Kamsteeg, E-J., Kerkhof, J., & 39 othersKido, J., Kim, H-G., Kleefstra, T., Lonardo, F., Lai, A., Lev, D., Levy, M. A., Lewis, M. E. S., Lichty, A., Mannens, M. M. A. M., Matsumoto, N., Maya, I., McConkey, H., Megarbane, A., Michaud, V., Miele, E., Niceta, M., Novelli, A., Onesimo, R., Pfundt, R., Popp, B., Prijoles, E., Relator, R., Redon, S., Rots, D., Rouault, K., Saida, K., Schieving, J., Tartaglia, M., Tenconi, R., Uguen, K., Verbeek, N., Walsh, C. A., Yosovich, K., Yuskaitis, C. J., Zampino, G., Sadikovic, B., Alders, M. & Oegema, R., Jan 2023, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25, 1, p. 49-62 14 p.

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

      Open Access
      File
      9 Downloads (Pure)

    • DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder

      Rooney, K., van der Laan, L., Trajkova, S., Haghshenas, S., Relator, R., Lauffer, P., Vos, N., Levy, M. A., Brunetti-Pierri, N., Terrone, G., Mignot, C., Keren, B., Billette de Villemeur, T., Volker-Touw, C. M. L., Verbeek, N., van der Smagt, J. J., Oegema, R., Brusco, A., Ferrero, G. B., Misra-Isrie, M., & 6 othersHochstenbach, R., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., Aug 2023, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25, 8, 100871.

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

    • Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation

      Gafner, M., Garel, C., Leibovitz, Z., Valence, S., Krajden Haratz, K., Oegema, R., Mancini, G. M. S., Heron, D., Bueltmann, E., Burglen, L., Rodriguez, D., Huisman, T. A. G. M., Lequin, M. H., Arad, A., Kidron, D., Muqary, M., Gindes, L., Lev, D., Boltshauser, E. & Lerman-Sagie, T., 1 Mar 2023, In: AJNR. American journal of neuroradiology. 44, 3, p. 334-340 7 p.

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

    • Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

      Picketts, D., Mirzaa, G., Yan, K., Relator, R., Timpano, S., Yalcin, B., Collins, S., Ziegler, A., Pao, E., Oyama, N., Brischoux-Boucher, E., Piard, J., Monaghan, K., Sacoto, M. G., Dobyns, W., Park, K., Fernández-Mayoralas, D., Fernández-Jaén, A., Jayakar, P., Brusco, A., & 42 othersAntona, V., Giorgio, E., Kvarnung, M., Isidor, B., Conrad, S., Cogné, B., Deb, W., Stuurman, K. E., Sterbova, K., Smal, N., Weckhuysen, S., Oegema, R., Innes, M., Latsko, M., Ben-Omran, T., Yeh, R., Kruer, M., Bakhtiari, S., Papavasiliou, A., Moutton, S., Nambot, S., Chanprasert, S., Paolucci, S., Miller, K., Burton, B., Kim, K., O'Heir, E., Bruwer, Z., Donald, K., Kleefstra, T., Goldstein, A., Angle, B., Bontempo, K., Miny, P., Joset, P., Demurger, F., Hobson, E., Pang, L., Carpenter, L., Li, D., Bonneau, D. & Sadikovic, B., 29 Sept 2023, Research Square, 32 p. (Research square).

      Research output: Working paper › Preprint › Academic

      File
      4 Downloads (Pure)

    • When brain size matters: novel insights into brain volume control

      Oegema, R., 1 Aug 2023, In: Brain : a journal of neurology. 146, 8, p. 3112-3113 2 p.

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

      Open Access
      File
      15 Downloads (Pure)
    • 2022

      De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

      Galosi, S., Edani, B. H., Martinelli, S., Hansikova, H., Eklund, E. A., Caputi, C., Masuelli, L., Corsten-Janssen, N., Srour, M., Oegema, R., Bosch, D. G. M., Ellis, C. A., Amlie-Wolf, L., Accogli, A., Atallah, I., Averdunk, L., Barañano, K. W., Bei, R., Bagnasco, I., Brusco, A., & 30 othersDemarest, S., Alaix, A-S., Di Bonaventura, C., Distelmaier, F., Elmslie, F., Gan-Or, Z., Good, J-M., Gripp, K., Kamsteeg, E-J., Macnamara, E., Marcelis, C., Mercier, N., Peeden, J., Pizzi, S., Pannone, L., Shinawi, M., Toro, C., Verbeek, N. E., Venkateswaran, S., Wheeler, P. G., Zdrazilova, L., Zhang, R., Zorzi, G., Guerrini, R., Sessa, W. C., Lefeber, D., Tartaglia, M., Hamdan, F. F., Grabińska, K. A. & Leuzzi, V., 29 Mar 2022, In: Brain : a journal of neurology. 145, 1, p. 208-223 16 p.

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

    • Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

      Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, M. P., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Ferilli, M., Fletcher, R. S., Cherick, F., Foroutan, A., & 72 othersFriez, M. J., Gervasini, C., Haghshenas, S., Hilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, E., Pallares, N. R., Piccione, M., Plomp, A. S., Poulton, C., Reilly, J., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., John, M. S., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T. B., Banka, S., Gecz, J., Henneman, P., Lee, J. A., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Campion, D., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Heron, D., Husson, T., Kernohan, K. D., McNeill, A., Menke, L. A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vincent, M., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L. & Sadikovic, B., Nov 2022, In: Human mutation. 43, 11, p. 1609-1628 20 p.

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

    • Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

      13 Jan 2022, In: HGG advances. 3, 1, p. 1-18 100075.

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

      Open Access
      File
      11 Downloads (Pure)

    • Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.

      Schwarz, N., Seiffert, S., Pendziwiat, M., Rademacher, A. V., Brà Nger, T., Hedrich, U. B. S., Augustijn, P. B., Baier, H., Bayat, A., Bisulli, F., Buono, R. J., Bruria, B. Z., Doyle, M. G., Guerrini, R., Heimer, G., Iacomino, M., Kearney, H., Klein, K. M., Kousiappa, I., Kunz, W. S., & 28 othersLerche, H., Licchetta, L., Lohmann, E., Minardi, R., McDonald, M., Montgomery, S., Mulahasanovic, L., Oegema, R., Ortal, B., Papacostas, S. S., Ragona, F., Granata, T., Reif, P. S., Rosenow, F., Rothschild, A., Scudieri, P., Striano, P., Tinuper, P., Tanteles, G. A., Vetro, A., Zahnert, F., Goldberg, E. M., Zara, F., Lal, D., May, P., Muhle, H., Helbig, I. & Weber, Y., 17 May 2022, In: Neurology. 98, 20, p. e2046-e2059

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

      Open Access
      File
      7 Downloads (Pure)
    • 2021

      Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

      Levy, M. A., Beck, D. B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M-C., Keren, B., Moore, H. W., Oegema, R., Giltay, J. C., Simon, M., van Jaarsveld, R. H., Bos, J., van Haelst, M., Motazacker, M. M., Boon, E. M. J., & 14 othersSanten, G. W. E., Ruivenkamp, C. A. L., Alders, M., Luperchio, T. R., Boukas, L., Ramsey, K., Narayanan, V., Schaefer, G. B., Bonasio, R., Doheny, K. F., Stevenson, R. E., Banka, S., Sadikovic, B. & Fahrner, J. A., 24 Nov 2021, In: npj Genomic Medicine. 6, 1, 100.

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

      Open Access
      File
      4 Downloads (Pure)

    • Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency

      Hellebrekers, D., Nievelstein, R. A. J., van Hasselt, P. M., van Jaarsveld, R. H., Cuppen, I. & Oegema, R., Jan 2021, In: European Journal of Medical Genetics. 64, 1, 5 p., 104120.

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

      Open Access
      File
      7 Downloads (Pure)

    • Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

      Levy, M. A., Beck, D. B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M-C., Keren, B., Moore, H. W., Oegema, R., Giltay, J. C., Simon, M., van Jaarsveld, R. H., Bos, J., van Haelst, M., Motazacker, M. M., Boon, E. M. J., & 14 othersSanten, G. W. E., Ruivenkamp, C. A. L., Alders, M., Luperchio, T. R., Boukas, L., Ramsey, K., Narayanan, V., Schaefer, G. B., Bonasio, R., Doheny, K. F., Stevenson, R. E., Banka, S., Sadikovic, B. & Fahrner, J. A., Dec 2021, In: npj Genomic Medicine. 6, 1, p. 1-15 92.

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

      Open Access
      File
      10 Downloads (Pure)

    • De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

      Djordjevic, D., Pinard, M., Gauthier, M-S., Smith-Hicks, C., Hoffman, T. L., Wolf, N. I., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B. & Yoon, G., 7 Jan 2021, In: American Journal of Human Genetics. 108, 1, p. 186-193 8 p.

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

      Open Access
      File
      15 Downloads (Pure)

    • Genetic causes underlying grey matter heterotopia

      Oegema, R., Nov 2021, In: European Journal of Paediatric Neurology. 35, p. 82-92 11 p.

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

      Open Access
      File
      22 Downloads (Pure)

    • Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

      Jul 2021, In: Nature Genetics. 53, 7, p. 1006-1021+ 16 p.

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

    • The spectrum of brain malformations and disruptions in twins

      Park, K. B., Chapman, T., Aldinger, K. A., Mirzaa, G. M., Zeiger, J., Beck, A., Glass, I. A., Hevner, R. F., Jansen, A. C., Marshall, D. A., Oegema, R., Parrini, E., Saneto, R. P., Curry, C. J., Hall, J. G., Guerrini, R., Leventer, R. J. & Dobyns, W. B., Sept 2021, In: American Journal of Medical Genetics. Part A. 185, 9, p. 2690-2718 29 p.

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

    • 2020

      International consensus recommendations on the diagnostic work-up for malformations of cortical development

      Oegema, R., Barakat, T. S., Wilke, M., Stouffs, K., Amrom, D., Aronica, E., Bahi-Buisson, N., Conti, V., Fry, A. E., Geis, T., Andres, D. G., Parrini, E., Pogledic, I., Said, E., Soler, D., Valor, L. M., Zaki, M. S., Mirzaa, G., Dobyns, W. B., Reiner, O., & 7 othersGuerrini, R., Pilz, D. T., Hehr, U., Leventer, R. J., Jansen, A. C., Mancini, G. M. S. & Di Donato, N., Nov 2020, In: Nature Reviews Neurology. 16, 11, p. 618-635 18 p.

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

      Open Access
      File
      14 Downloads (Pure)

    • Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

      Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T-T., Eio, M. Y., Narayanan, G., Utami, K. H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H. M., Gunay-Aygun, M., Muriello, M. J., Verhelst, H., Weckhuysen, S., & 65 othersMahida, S., Naidu, S., Thomas, T. G., Lim, J. Y., Tan, E. S., Haye, D., Willemsen, M. A. A. P., Oegema, R., Mitchell, W. G., Pierson, T. M., Andrews, M. V., Willing, M. C., Rodan, L. H., Barakat, T. S., van Slegtenhorst, M., Gavrilova, R. H., Martinelli, D., Gilboa, T., Tamim, A. M., Hashem, M. O., AlSayed, M. D., Abdulrahim, M. M., Al-Owain, M., Awaji, A., Mahmoud, A. A. H., Faqeih, E. A., Asmari, A. A., Algain, S. M., Jad, L. A., Aldhalaan, H. M., Helbig, I., Koolen, D. A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A. Y. J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L. E., Klee, E. W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M. A., Stewart, J. C., Claridge-Chang, A., Lefeber, D. J., Alkuraya, F. S., Mathuru, A. S., Venkatesh, B., Barycki, J. J., Simpson, M. A., Jamuar, S. S., Schöls, L. & Reversade, B., 30 Jan 2020, In: Nature Communications. 11, 1, 16 p., 595.

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

      Open Access
      File
      12 Downloads (Pure)

    • Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

      Li, L., Ghorbani, M., Weisz-Hubshman, M., Rousseau, J., Thiffault, I., Schnur, R. E., Breen, C., Oegema, R., Weiss, M. M., Waisfisz, Q., Welner, S., Kingston, H., Hills, J. A., Boon, E. M., Basel-Salmon, L., Konen, O., Goldberg-Stern, H., Bazak, L., Tzur, S., Jin, J., & 14 othersBi, X., Bruccoleri, M., McWalter, K., Cho, M. T., Scarano, M., Schaefer, G. B., Brooks, S. S., Hughes, S. S., van Gassen, K. L. I., van Hagen, J. M., Pandita, T. K., Agrawal, P. B., Campeau, P. M. & Yang, X-J., 2 Mar 2020, In: Journal of Clinical Investigation. 130, 3, p. 1431-1445 15 p.

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

    • 2019

      Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in Medicine (2019) 21(2) (398–408), (S1098360021046268), (10.1038/s41436-018-0060-2))

      Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S., & 68 othersBalestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E. H., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. S., Jennesson, M., Sattar, S., Marchal, C., NordliJr, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., 1 Aug 2019, In: Genetics in medicine : official journal of the American College of Medical Genetics. 21, 8, p. 1896 1 p.

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

    • Correction to: The landscape of epilepsy-related GATOR1 variants (Genetics in Medicine, (2018), 10.1038/s41436-018-0060-2)

      Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., Martin, A. D. S., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S., & 68 othersBalestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F., Braun, K., Jong, D. D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d’Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. S., Jennesson, M., Sattar, S., Marchal, C., NordliJr, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., Bellescize, J. D., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., Jul 2019, In: Genetics in Medicine. 21, 7, p. P1671-P1671 1 p.

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

    • De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

      Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F. E., Au, M., Chen, A. H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A., & 18 othersKorostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, J. A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C., van Gassen, K., Nelson, S., Graham, J. M., Friedman, J., Faivre, L., Lin, H. J., Thauvin-Robinet, C. & Vitobello, A., Apr 2019, In: Genetics in Medicine. 21, 4, p. 1008-1014 7 p.

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

    • EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

      Oegema, R., McGillivray, G., Leventer, R., Le Moing, A-G., Bahi-Buisson, N., Barnicoat, A., Mandelstam, S., Francis, D., Francis, F., Mancini, G. M. S., Savelberg, S., van Haaften, G., Mankad, K. & Lequin, M. H., Dec 2019, In: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 181, 4, p. 627-637 11 p.

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

      Open Access
      File
      11 Downloads (Pure)

    • Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

      Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J. P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J. P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M., & 49 othersJansen, A. C., Muaz, A., Chang, W. H., Bergerson, J., Laulederkind, S. J. F., Yüksel, Z., Beltran, S., Freeman, A. F., Sergouniotis, P. I., Durkin, D., Storm, A. L., Hanauer, M., Brudno, M., Bello, S. M., Sincan, M., Rageth, K., Wheeler, M. T., Oegema, R., Lourghi, H., Della Rocca, M. G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R. C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X. A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J. D., Leroux, D., Boerkoel, C. F., Klion, A., Carter, M. C., Groza, T., Smedley, D., Haendel, M. A., Mungall, C. & Robinson, P. N., 8 Jan 2019, In: Nucleic Acids Research. 47, D1, p. D1018-D1027

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

      Open Access
      File
      1 Downloads (Pure)

    • Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

      Vandervore, L. V., Schot, R., Kasteleijn, E., Oegema, R., Stouffs, K., Gheldof, A., Grochowska, M. M., Van Der Sterre, M. L. T., Van Unen, L. M. A., Wilke, M., Elfferich, P., Van Der Spek, P. J., Heijsman, D., Grandone, A., Demmers, J. A. A., Dekkers, D. H. W., Slotman, J. A., Kremers, G. J., Schaaf, G. J., Masius, R. G., & 12 othersVan Essen, A. J., Rump, P., Van Haeringen, A., Peeters, E., Altunoglu, U., Kalayci, T., Poot, R. A., Dobyns, W. B., Bahi-Buisson, N., Verheijen, F. W., Jansen, A. C. & Mancini, G. M. S., Apr 2019, In: Brain : a journal of neurology. 142, 4, p. 867-884 18 p.

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

      Open Access
      2 Citations (Scopus)

    • Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

      Bell, S., Rousseau, J., Peng, H., Aouabed, Z., Priam, P., Theroux, J. F., Jefri, M., Tanti, A., Wu, H., Kolobova, I., Silviera, H., Manzano-Vargas, K., Ehresmann, S., Hamdan, F. F., Hettige, N., Zhang, X., Antonyan, L., Nassif, C., Ghaloul-Gonzalez, L., Sebastian, J., & 49 othersVockley, J., Begtrup, A. G., Wentzensen, I. M., Crunk, A., Nicholls, R. D., Herman, K. C., Deignan, J. L., Al-Hertani, W., Efthymiou, S., Salpietro, V., Miyake, N., Makita, Y., Matsumoto, N., Østern, R., Houge, G., Hafström, M., Fassi, E., Houlden, H., Klein Wassink-Ruiter, J. S., Nelson, D., Goldstein, A., Dabir, T., van Gils, J., Bourgeron, T., Delorme, R., Cooper, G. M., Martinez, J. E., Finnila, C. R., Carmant, L., Lortie, A., Oegema, R., van Gassen, K., Mehta, S. G., Huhle, D., Abou Jamra, R., Martin, S., Brunner, H. G., Lindhout, D., Au, M., Graham, J. M., Coubes, C., Turecki, G., Gravel, S., Mechawar, N., Rossignol, E., Michaud, J. L., Lessard, J., Ernst, C. & Campeau, P. M., 2 May 2019, In: American Journal of Human Genetics. 104, 5, p. 815-834 20 p.

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

    • Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals

      Oegema, R., Barkovich, A. J., Mancini, G. M. S., Guerrini, R. & Dobyns, W. B., 1 Oct 2019, In: Neurology. 93, 14, p. e1360-e1373

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

      Open Access
      File
      1 Downloads (Pure)

    • The landscape of epilepsy-related GATOR1 variants

      Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S., & 69 othersBalestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d’Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S., Baulac, S. & Baulac, S., 1 Feb 2019, In: Genetics in Medicine. 21, 2, p. 398-408 11 p.

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

      Open Access
      File

    • TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

      Vandervore, L. V., Schot, R., Milanese, C., Smits, D. J., Kasteleijn, E., Fry, A. E., Pilz, D. T., Brock, S., Börklü-Yücel, E., Post, M., Bahi-Buisson, N., Sánchez-Soler, M. J., van Slegtenhorst, M., Keren, B., Afenjar, A., Coury, S. A., Tan, W-H., Oegema, R., de Vries, L. S., Fawcett, K. A., & 29 othersNikkels, P. G. J., Bertoli-Avella, A., Al Hashem, A., Alwabel, A. A., Tlili-Graiess, K., Efthymiou, S., Zafar, F., Rana, N., Bibi, F., Houlden, H., Maroofian, R., Person, R. E., Crunk, A., Savatt, J. M., Turner, L., Doosti, M., Karimiani, E. G., Saadi, N. W., Akhondian, J., Lequin, M. H., Kayserili, H., van der Spek, P. J., Jansen, A. C., Kros, J. M., Verdijk, R. M., Milošević, N. J., Fornerod, M., Mastroberardino, P. G. & Mancini, G. M. S., 5 Dec 2019, In: American Journal of Human Genetics. 105, 6, p. 1126-1147 22 p.

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

    • 2018

      HCN1 mutation spectrum: From neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

      Marini, C., Porro, A., Rastetter, A., Dalle, C., Rivolta, I., Bauer, D., Oegema, R., Nava, C., Parrini, E., Mei, D., Mercer, C., Dhamija, R., Chambers, C., Coubes, C., Thévenon, J., Kuentz, P., Julia, S., Pasquier, L., Dubourg, C., Carré, W., & 50 othersRosati, A., Melani, F., Pisano, T., Giardino, M., Innes, A. M., Alembik, Y., Scheidecker, S., Santos, M., Figueiroa, S., Garrido, C., Fusco, C., Frattini, D., Spagnoli, C., Binda, A., Granata, T., Ragona, F., Freri, E., Franceschetti, S., Canafoglia, L., Castellotti, B., Gellera, C., Milanesi, R., Mancardi, M. M., Clark, D. R., Kok, F., Helbig, K. L., Ichikawa, S., Sadler, L., Neupauerová, J., Laššuthova, P., Štěrbová, K., Laridon, A., Brilstra, E., Koeleman, B., Lemke, J. R., Zara, F., Striano, P., Soblet, J., Smits, G., Deconinck, N., Barbuti, A., Difrancesco, D., Leguern, E., Guerrini, R., Santoro, B., Hamacher, K., Thiel, G., Moroni, A., Difrancesco, J. C. & Depienne, C., 1 Nov 2018, In: Brain : a journal of neurology. 141, 11, p. 3160-3178 19 p.

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

      2 Citations (Scopus)
    • 2017

      Erratum: Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development (PLoS genetics (2017) 13 5 (e1006809))

      Oegema, R., Baillat, D., Schot, R., van Unen, L. M., Brooks, A., Kia, S. K., Hoogeboom, A. J. M., Xia, Z., Li, W., Cesaroni, M., Lequin, M. H., van Slegtenhorst, M., Dobyns, W. B., de Coo, I. F. M., van den Berg, D., Verheijen, F. W., Kremer, A., van der Spek, P. J., Heijsman, D., Wagner, E. J., & 2 othersFornerod, M. & Mancini, G. M. S., Aug 2017, In: PLoS Genetics. 13, 8, p. e1006923

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

      Open Access
      File
      1 Citation (Scopus)

    • Hoe zit het met epilepsie en erfelijkheid?

      Oegema, R., Mar 2017, 2 p. Epilepsie Magazine.

      Research output: Other contribution › Other research output

    • Human mutations in integrator complex subunits link transcriptome integrity to brain development

      Oegema, R., Baillat, D., Schot, R., van Unen, L. M., Brooks, A., Kia, S. K., Hoogeboom, A. J. M., Xia, Z., Li, W., Cesaroni, M., Lequin, M. H., van Slegtenhorst, M., Dobyns, W. B., de Coo, I. F. M., Verheijen, F. W., Kremer, A., van der Spek, P. J., Heijsman, D., Wagner, E. J., Fornerod, M., & 1 othersMancini, G. M. S., 2017, In: PLoS Genetics. 13, 5, e1006809.

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

      Open Access
      File

    • Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

      Niturad, C. E., Lev, D., Kalscheuer, V. M., Charzewska, A., Schubert, J., Lerman-Sagie, T., Kroes, H. Y., Oegema, R., Traverso, M., Specchio, N., Lassota, M., Chelly, J., Bennett-Back, O., Carmi, N., Koffler-Brill, T., Iacomino, M., Trivisano, M., Capovilla, G., Striano, P., Nawara, M., & 19 othersRzoca, S., Fischer, U., Bienek, M., Jensen, C., Hu, H., Thiele, H., Altmüller, J., Krause, R., May, P., Becker, F., Balling, R., Biskup, S., Haas, S. A., Nürnberg, P., Van Gassen, K. L. I., Lerche, H., Zara, F., Maljevic, S. & Leshinsky-Silver, E., 1 Nov 2017, In: Brain. 140, 11, p. 2879-2894 16 p.

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

    • 2016

      Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

      Kalscheuer, V. M., James, V. M., Himelright, M. L., Long, P., Oegema, R., Jensen, C., Bienek, M., Hu, H., Haas, S. A., Topf, M., Hoogeboom, A. J. M., Harvey, K., Walikonis, R. & Harvey, R. J., 2016, In: Frontiers in Molecular Neuroscience [E]. 8, 10 p., 85.

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

      Open Access
      File
      1 Downloads (Pure)
    • 2012

      COL4A2 mutation associated with familial porencephaly and small-vessel disease

      Verbeek, E., Meuwissen, M. E. C., Verheijen, F. W., Govaert, P. P., Licht, D. J., Kuo, D. S., Poulton, C. J., Schot, R., Lequin, M. H., Dudink, J., Halley, D. J., de Coo, R. I. F., den Hollander, J. C., Oegema, R., Gould, D. B. & Mancini, G. M. S., Aug 2012, In: European Journal of Human Genetics. 20, 8, p. 844-51 8 p.

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

    • 2010

      Distinctive phenotypic abnormalities associated with submicroscopic 21q22 deletion including DYRK1A

      Oegema, R., De Klein, A., Verkerk, A. J., Schot, R., Dumee, B., Douben, H., Eussen, B., Dubbel, L., Poddighe, P. J., Van Der Laar, I., Dobyns, W. B., Van Der Spek, P. J., Lequin, M. H., De Coo, I. F. M., De Wit, M. C. Y., Wessels, M. W. & Mancini, G. M. S., 1 Dec 2010, In: Molecular Syndromology. 1, 3, p. 113-120 8 p.

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

      Open Access
      31 Citations (Scopus)

    • KBG syndrome associated with periventricular nodular heterotopia

      Oegema, R., Schot, R., De Wit, M. C. Y., Lequin, M. H., Oostenbrink, R., De Coo, I. F. M. & Mancini, G. M. S., 1 Jul 2010, In: Clinical dysmorphology. 19, 3, p. 164-165 2 p.

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

      4 Citations (Scopus)
    Your message has successfully been sent.
    Your message was not sent due to an error.