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Erica Gerkes

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  • 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 othersPierini, 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
    19 Downloads (Pure)

  • Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

    van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson, E. C., Ahlers, K. P., Arts, P., Barnett, C. P., Ashfaq, M., Baban, A., van den Born, M., Borrie, S., Busa, T., Byrne, A., Carriero, M., Cesario, C., & 35 othersChong, K., Cueto-González, A. M., Dempsey, J. C., Diderich, K. E. M., Doherty, D., Farholt, S., Gerkes, E. H., Gorokhova, S., Govaerts, L. C. P., Gregersen, P. A., Hickey, S. E., Lefebvre, M., Mari, F., Martinovic, J., Northrup, H., O'Leary, M., Parbhoo, K., Patrier, S., Popp, B., Santos-Simarro, F., Stoltenburg, C., Thauvin-Robinet, C., Thompson, E., Vulto-van Silfhout, A. T., Zahir, F. R., Scott, H. S., Earl, R. K., Eichler, E. E., Vora, N. L., Wilnai, Y., Giordano, J. L., Wapner, R. J., Rosenfeld, J. A., Haak, M. C. & Santen, G. W. E., Aug-2022, In: Genetics in Medicine. 24, 8, p. 1753-1760 8 p.

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

    Open Access
    File
    4 Citations (Scopus)
    37 Downloads (Pure)

  • Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

    Dingemans, A. J. M., Truijen, K. M. G., Kim, J-H., Alacam, Z., Faivre, L., Collins, K. M., Gerkes, E. H., van Haelst, M., van de Laar, I. M. B. H., Lindstrom, K., Nizon, M., Pauling, J., Heropolitanska-Pliszka, E., Plomp, A. S., Racine, C., Sachdev, R., Sinnema, M., Skranes, J., Veenstra-Knol, H. E., Verberne, E. A., & 5 othersVulto-van Silfhout, A. T., Wilsterman, M. E. F., Ahn, E-Y. E., de Vries, B. B. A. & Vissers, L. E. L. M., 2022, In: European Journal of Human Genetics. p. 271–281 11 p.

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

    Open Access
    File
    13 Citations (Scopus)
    108 Downloads (Pure)

  • Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

    Vegas, N., Demir, Z., Gordon, C. T., Breton, S., Tavares, V. L. R., Moisset, H., Zechi-Ceide, R., Kokitsu-Nakata, N. M., Kido, Y., Marlin, S., Halem, S. G., Meerschaut, I., Callewaert, B., Chung, B., Revencu, N., Lehalle, D., Petit, F., Propst, E. J., Papsin, B. C., Phillips, J. H., & 17 othersJakobsen, L., Le Tanno, P., Thevenon, J., McGaughran, J., Gerkes, E. H., Leoni, C., Kroisel, P., Tan, T. Y., Henderson, A., Terhal, P., Basel-Salmon, L., Alkindy, A., White, S. M., Passos-Bueno, M. R., Pingault, V., De Pontual, L. & Amiel, J., May-2022, In: Human Mutation. 43, 5, p. 582-594 13 p.

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

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

  • Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

    Cuinat, S., Nizon, M., Isidor, B., Stegmann, A., van Jaarsveld, R. H., van Gassen, K. L., van der Smagt, J. J., Volker-Touw, C. M. L., Holwerda, S. J. B., Terhal, P. A., Schuhmann, S., Vasileiou, G., Khalifa, M., Nugud, A. A., Yasaei, H., Ousager, L. B., Brasch-Andersen, C., Deb, W., Besnard, T., Simon, M. E. H., & 31 othersAmsterdam, K. H. V., Verbeek, N. E., Matalon, D., Dykzeul, N., White, S., Spiteri, E., Devriendt, K., Boogaerts, A., Willemsen, M., Brunner, H. G., Sinnema, M., De Vries, B. B. A., Gerkes, E. H., Pfundt, R., Izumi, K., Krantz, I. D., Xu, Z. L., Murrell, J. R., Valenzuela, I., Cusco, I., Rovira-Moreno, E., Yang, Y., Bizaoui, V., Patat, O., Faivre, L., Tran-Mau-Them, F., Vitobello, A., Denommé-Pichon, A. S., Philippe, C., Bezieau, S. & Cogné, B., Aug-2022, In: Genetics in Medicine. 24, 8, p. 1774-1780 7 p.

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

    Open Access
    File
    7 Citations (Scopus)
    115 Downloads (Pure)
View all 44 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 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 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

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

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

    DOI: 10.6084/m9.figshare.8282180.v1, https://doi.org/10.6084%2Fm9.figshare.8282180.v1

    Dataset

View all 6 datasets