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Erica Gerkes

drs.

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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):

  • SDG 3 - Good Health and Well-being

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Collaborations and top research areas from the last five years

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  • Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): Genotype and phenotype of 22 patients with ZNF148 mutations

    Szakszon, K., Lourenco, C. M., Callewaert, B. L., Geneviève, D., Rouxel, F., Morin, D., Denommé-Pichon, A. S., Vitobello, A., Patterson, W., Louie, R., Pinto E Vairo, F., Klee, E., Kaiwar, C., Gavrilova, R. H., Agre, K. E., Jacquemont, S., Khadijé, J., Giltay, J., Van Gassen, K. & Mer ', G. & 27 others, Gerkes, E., Van Bon, B. W., Rinne, T., Pfundt, R., Brunner, H. G., Caluseriu, O., Grasshoff, U., Kehrer, M., Haack, T. B., Khelifa, M. M., Bergmann, A. K., Cueto-González, A. M., Martorell, A. C., Ramachandrappa, S., Sawyer, L. B., Fasel, P., Braun, D., Isis, A., Superti-Furga, A., McNiven, V., Chitayat, D., Ahmed, S. A., Brennenstuhl, H., Schwaibolf, E. M. C., Battisti, G., Parmentier, B. & Stevens, S. J. C., 19-Jan-2024, In: Journal of Medical Genetics. 61, p. 132-141 10 p.

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

    Open Access
    File
    2 Citations (Scopus)
    154 Downloads (Pure)

  • Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

    Karimi, K., Mol, M. O., Haghshenas, S., Relator, R., Levy, M. A., Kerkhof, J., McConkey, H., Brooks, A., Zonneveld-Huijssoon, E., Gerkes, E. H., Tedder, M. L., Vissers, L., Salzano, E., Piccione, M., Asaftei, S. D., Carli, D., Mussa, A., Shukarova-Angelovska, E., Trajkova, S. & Brusco, A. & 4 others, Merla, G., Alders, M. M., Bouman, A. & Sadikovic, B., Mar-2024, In: Genetics in Medicine. 26, 3, 14 p., 101041.

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

    Open Access
    File
    134 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, Diets, I. J., Nizon, M., Vincent, M., Cogné, B., Besnard, T., Kambouris, M., Anderson, E., Zackai, E. H., McDougall, C., Donoghue, S., O'Donnell-Luria, A., Valivullah, Z., O'Leary, M., Srivastava, S., Byers, H., Leslie, N., Mazzola, S., Tiller, G. E., Vera, M., Shen, J. J., Boles, R., Jain, V., Brischoux-Boucher, E., Kinning, E., Simpson, B. N., Giltay, J. C., Harris, J., Keren, B., Guimier, A., Marijon, P., Vries, B. B. A. D., Motter, C. S., Mendelsohn, B. A., Coffino, S., Gerkes, E. H., Afenjar, A., Visconti, P., Bacchelli, E., Maestrini, E., Delahaye-Duriez, A., Gooch, C., Hendriks, Y., Adams, H., Thauvin-Robinet, C., Josephi-Taylor, S., Bertoli, M., Parker, M. J., Rutten, J. W., Caluseriu, O., Vernon, H. J., Kaziyev, J., Zhu, J., Kremen, J., Frazier, Z., Osika, H., Breault, D., Nair, S., Lewis, S. M. E., Ceroni, F., Viggiano, M., Posar, A., Brittain, H., Giovanna, T., Giulia, G., Quteineh, L., Ha-Vinh Leuchter, R., Zonneveld-Huijssoon, E., Mellado, C., Marey, I., Coudert, A., Aracena Alvarez, M. I., Kennis, M. G. P., Bouman, A., Roifman, M., Amorós Rodríguez, M. I., Ortigoza-Escobar, J. D., Vernimmen, V., Sinnema, M., Pfundt, R., Brunner, H. G., Vissers, L. E. L. M., Kleefstra, T., Weksberg, R. & Banka, S., 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 Access
    4 Citations (Scopus)

  • Amniotic band syndrome and limb body wall complex in Europe 1980-2019

    Bergman, J. E. H., Barišić, I., Addor, M.-C., Braz, P., Cavero-Carbonell, C., Draper, E. S., Echevarría-González-de-Garibay, L. J., Gatt, M., Haeusler, M., Khoshnood, B., Klungsøyr, K., Kurinczuk, J. J., Latos-Bielenska, A., Luyt, K., Martin, D., Mullaney, C., Nelen, V., Neville, A. J., O'Mahony, M. T. & Perthus, I. & 16 others, Pierini, A., Randrianaivo, H., Rankin, J., Rissmann, A., Rouget, F., Sayers, G., Schaub, B., Stevens, S., Tucker, D., Verellen-Dumoulin, C., Wiesel, A., Gerkes, E. H., Perraud, A., Loane, M. A., Wellesley, D. & de Walle, H. E. K., Apr-2023, In: American Journal of Medical Genetics. Part A. 191, 4, p. 995-1006 12 p.

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

    Open Access
    File
    5 Citations (Scopus)
    149 Downloads (Pure)

  • 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. A., 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 others, Kunnathully, 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., Mau-Them, F. T., Maddocks, A. B. R., 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, 17 p., e165019.

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

    Open Access
    File
    17 Citations (Scopus)
    94 Downloads (Pure)
View all 50 research outputs

  • Additional file 3: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Kerkhofs, C. H. (Contributor), Keski-Filppula, R. (Contributor), Van Zelst-Stams, W. A. G. (Contributor), Hehir-Kwa, J. Y. (Contributor), Alsaad, A. B. (Contributor), Mensenkamp, A. R. (Contributor), Hoischen, A. (Contributor), Moilanen, J. (Contributor), Hortillosa, S. (Contributor), Zonneveld-Huijssoon, E. (Contributor), Van Deuren, M. (Contributor), Henriet, S. S. (Contributor), Bleeker-Rovers, C. P. (Contributor), Gilissen, C. (Contributor), Stokowy, T. (Contributor), Hoppenreijs, E. P. (Contributor), Alzahrani, M. S. (Contributor), Veltman, J. A. (Contributor), Faqeih, E. A. (Contributor), Lelieveld, S. H. (Contributor), Van Der Flier, M. (Contributor), Van Paassen, P. (Contributor), Alenezi, N. (Contributor), Schuurs-Hoeijmakers, J. H. M. (Contributor), Netea, M. G. (Contributor), Van Well, G. T. J. (Contributor), Gerkes, E. (Contributor), Vreeburg, M. (Contributor), Al-Hussaini, A. A. (Contributor), Almanjomi, F. (Contributor), Habazi, M. K. (Contributor), Ten Oever, J. (Contributor), Andijani, A. A. (Contributor), Ballourah, W. (Contributor), Lone, K. (Contributor), Aljubab, H. A. (Contributor), Arts, P. (Contributor), Simons, A. (Contributor), Alsaleem, B. (Contributor), MacKenzie, M. A. (Contributor), Alghamdi, H. A. (Contributor), Wagner, A. (Contributor), Van De Veerdonk, F. L. (Contributor), Potjewijd, J. (Contributor), Nelen, M. (Contributor), Zafeiropoulou, D. (Contributor), Van Aerde, K. J. (Contributor), Asery, A. (Contributor), Van De Vorst, M. (Contributor), Alidrissi, E. (Contributor), Yilmaz, E. (Contributor) & Simon, A. (Contributor), University of Groningen, 17-Jun-2019

    DOI: 10.6084/m9.figshare.8282177.v1, https://doi.org/10.6084%2Fm9.figshare.8282177.v1

    Dataset

  • Additional file 6: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Moilanen, J. (Contributor), Veltman, J. A. (Contributor), Alenezi, N. (Contributor), Netea, M. G. (Contributor), Faqeih, E. A. (Contributor), Al-Hussaini, A. A. (Contributor), Yilmaz, E. (Contributor), Alzahrani, M. S. (Contributor), Potjewijd, J. (Contributor), Keski-Filppula, R. (Contributor), Mensenkamp, A. R. (Contributor), Lelieveld, S. H. (Contributor), Henriet, S. S. (Contributor), Hoppenreijs, E. P. (Contributor), Zafeiropoulou, D. (Contributor), Alsaad, A. B. (Contributor), Van Well, G. T. J. (Contributor), Almanjomi, F. (Contributor), Alidrissi, E. (Contributor), MacKenzie, M. A. (Contributor), Lone, K. (Contributor), Gilissen, C. (Contributor), Nelen, M. (Contributor), Simon, A. (Contributor), Alghamdi, H. A. (Contributor), Arts, P. (Contributor), Asery, A. (Contributor), Van Paassen, P. (Contributor), Ballourah, W. (Contributor), Wagner, A. (Contributor), Hortillosa, S. (Contributor), Hoischen, A. (Contributor), Hehir-Kwa, J. Y. (Contributor), Van De Vorst, M. (Contributor), Vreeburg, M. (Contributor), Aljubab, H. A. (Contributor), Simons, A. (Contributor), Stokowy, T. (Contributor), Zonneveld-Huijssoon, E. (Contributor), Habazi, M. K. (Contributor), Kerkhofs, C. H. (Contributor), Gerkes, E. (Contributor), Alsaleem, B. (Contributor), Ten Oever, J. (Contributor), Van Zelst-Stams, W. A. G. (Contributor), Van De Veerdonk, F. L. (Contributor), Van Aerde, K. J. (Contributor), Andijani, A. A. (Contributor), Van Deuren, M. (Contributor), Van Der Flier, M. (Contributor), Schuurs-Hoeijmakers, J. H. M. (Contributor) & Bleeker-Rovers, C. P. (Contributor), University of Groningen, 17-Jun-2019

    DOI: 10.6084/m9.figshare.8282186.v1, https://doi.org/10.6084%2Fm9.figshare.8282186.v1

    Dataset

  • Additional file 1: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Stokowy, T. (Contributor), Gilissen, C. (Contributor), Hehir-Kwa, J. Y. (Contributor), Zafeiropoulou, D. (Contributor), Simons, A. (Contributor), Alghamdi, H. A. (Contributor), Van Aerde, K. J. (Contributor), Lelieveld, S. H. (Contributor), Van Paassen, P. (Contributor), Simon, A. (Contributor), Van De Veerdonk, F. L. (Contributor), Van Der Flier, M. (Contributor), Mensenkamp, A. R. (Contributor), Van Deuren, M. (Contributor), Al-Hussaini, A. A. (Contributor), Bleeker-Rovers, C. P. (Contributor), Ten Oever, J. (Contributor), Andijani, A. A. (Contributor), Almanjomi, F. (Contributor), Alsaad, A. B. (Contributor), Henriet, S. S. (Contributor), Arts, P. (Contributor), Vreeburg, M. (Contributor), Habazi, M. K. (Contributor), Veltman, J. A. (Contributor), Hoischen, A. (Contributor), Alsaleem, B. (Contributor), Alzahrani, M. S. (Contributor), Alidrissi, E. (Contributor), Van Zelst-Stams, W. A. G. (Contributor), Netea, M. G. (Contributor), Wagner, A. (Contributor), Aljubab, H. A. (Contributor), Hortillosa, S. (Contributor), Keski-Filppula, R. (Contributor), Kerkhofs, C. H. (Contributor), Van Well, G. T. J. (Contributor), Faqeih, E. A. (Contributor), Alenezi, N. (Contributor), Lone, K. (Contributor), Ballourah, W. (Contributor), Moilanen, J. (Contributor), Van De Vorst, M. (Contributor), Potjewijd, J. (Contributor), MacKenzie, M. A. (Contributor), Nelen, M. (Contributor), Gerkes, E. (Contributor), Zonneveld-Huijssoon, E. (Contributor), Hoppenreijs, E. P. (Contributor), Yilmaz, E. (Contributor), Asery, A. (Contributor) & Schuurs-Hoeijmakers, J. H. M. (Contributor), University of Groningen, 17-Jun-2019

    DOI: 10.6084/m9.figshare.8282171.v1, https://doi.org/10.6084%2Fm9.figshare.8282171.v1

    Dataset

  • Additional file 2: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Ten Oever, J. (Contributor), Arts, P. (Contributor), Alidrissi, E. (Contributor), Faqeih, E. A. (Contributor), Wagner, A. (Contributor), Van Der Flier, M. (Contributor), Almanjomi, F. (Contributor), Zonneveld-Huijssoon, E. (Contributor), Stokowy, T. (Contributor), Alenezi, N. (Contributor), Netea, M. G. (Contributor), Alghamdi, H. A. (Contributor), Keski-Filppula, R. (Contributor), Simons, A. (Contributor), Bleeker-Rovers, C. P. (Contributor), Habazi, M. K. (Contributor), Hoppenreijs, E. P. (Contributor), Al-Hussaini, A. A. (Contributor), Kerkhofs, C. H. (Contributor), Asery, A. (Contributor), Van Zelst-Stams, W. A. G. (Contributor), Yilmaz, E. (Contributor), Van Deuren, M. (Contributor), Van Aerde, K. J. (Contributor), Simon, A. (Contributor), Gerkes, E. (Contributor), Potjewijd, J. (Contributor), Hoischen, A. (Contributor), Schuurs-Hoeijmakers, J. H. M. (Contributor), Lone, K. (Contributor), Van De Veerdonk, F. L. (Contributor), Gilissen, C. (Contributor), Alsaad, A. B. (Contributor), Andijani, A. A. (Contributor), Van Well, G. T. J. (Contributor), Henriet, S. S. (Contributor), Nelen, M. (Contributor), Van De Vorst, M. (Contributor), Alsaleem, B. (Contributor), Veltman, J. A. (Contributor), Ballourah, W. (Contributor), Van Paassen, P. (Contributor), Vreeburg, M. (Contributor), Mensenkamp, A. R. (Contributor), Moilanen, J. (Contributor), Lelieveld, S. H. (Contributor), Hehir-Kwa, J. Y. (Contributor), MacKenzie, M. A. (Contributor), Alzahrani, M. S. (Contributor), Hortillosa, S. (Contributor), Zafeiropoulou, D. (Contributor) & Aljubab, H. A. (Contributor), University of Groningen, 17-Jun-2019

    DOI: 10.6084/m9.figshare.8282174.v1, https://doi.org/10.6084%2Fm9.figshare.8282174.v1

    Dataset

  • Additional file 5: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Zonneveld-Huijssoon, E. (Contributor), Alsaleem, B. (Contributor), Van Deuren, M. (Contributor), Kerkhofs, C. H. (Contributor), Hoppenreijs, E. P. (Contributor), Al-Hussaini, A. A. (Contributor), Simon, A. (Contributor), Alzahrani, M. S. (Contributor), Alidrissi, E. (Contributor), Hoischen, A. (Contributor), Stokowy, T. (Contributor), Ballourah, W. (Contributor), Mensenkamp, A. R. (Contributor), Henriet, S. S. (Contributor), Gilissen, C. (Contributor), Andijani, A. A. (Contributor), Lone, K. (Contributor), Van Well, G. T. J. (Contributor), Hehir-Kwa, J. Y. (Contributor), Alghamdi, H. A. (Contributor), Ten Oever, J. (Contributor), Habazi, M. K. (Contributor), Moilanen, J. (Contributor), Wagner, A. (Contributor), Yilmaz, E. (Contributor), MacKenzie, M. A. (Contributor), Van Aerde, K. J. (Contributor), Lelieveld, S. H. (Contributor), Van De Veerdonk, F. L. (Contributor), Almanjomi, F. (Contributor), Faqeih, E. A. (Contributor), Aljubab, H. A. (Contributor), Alsaad, A. B. (Contributor), Bleeker-Rovers, C. P. (Contributor), Potjewijd, J. (Contributor), Schuurs-Hoeijmakers, J. H. M. (Contributor), Simons, A. (Contributor), Veltman, J. A. (Contributor), Gerkes, E. (Contributor), Hortillosa, S. (Contributor), Van De Vorst, M. (Contributor), Van Zelst-Stams, W. A. G. (Contributor), Arts, P. (Contributor), Nelen, M. (Contributor), Zafeiropoulou, D. (Contributor), Vreeburg, M. (Contributor), Asery, A. (Contributor), Van Der Flier, M. (Contributor), Keski-Filppula, R. (Contributor), Van Paassen, P. (Contributor), Alenezi, N. (Contributor) & Netea, M. G. (Contributor), University of Groningen, 17-Jun-2019

    DOI: 10.6084/m9.figshare.8282183.v1, https://doi.org/10.6084%2Fm9.figshare.8282183.v1

    Dataset

View all 6 datasets