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dr. Alice Brooks

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  • A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

    Lecoquierre, F., Punt, A. M., Ebstein, F., Wallaard, I., Verhagen, R., Studencka-Turski, M., Duffourd, Y., Moutton, S., Tran Mau-Them, F., Philippe, C., Dean, J., Tennant, S., Brooks, A. S., van Slegtenhorst, M. A., Jurgens, J. A., Barry, B. J., Chan, W. M., England, E. M., Martinez Ojeda, M. & Engle, E. C. & 11 others, Robson, C. D., Morrow, M., Innes, A. M., Lamont, R., Sanderson, M., Krüger, E., Thauvin, C., Distel, B., Faivre, L., Elgersma, Y. & Vitobello, A., Jun 2024, In: Genetics in Medicine. 26, 6, 15 p., 101119.

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

    Open Access
    File
    1 Citation (Scopus)
    12 Downloads (Pure)

  • ATP5PO levels regulate enteric nervous system development in zebrafish, linking Hirschsprung disease to Down Syndrome

    Kuil, L. E., Chauhan, R. K., de Graaf, B. M., Cheng, W. W., Kakiailatu, N. J. M., Lasabuda, R., Verhaeghe, C., Windster, J. D., Schriemer, D., Azmani, Z., Brooks, A. S., Edie, S., Reeves, R. H., Eggen, B. J. L., Shepherd, I. T., Burns, A. J., Hofstra, R. M. W., Melotte, V., Brosens, E. & Alves, M. M., Mar 2024, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1870, 3, 166991.

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

    Open Access
    File
    20 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, 101041.

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

  • Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Pourova, R. K., Sedlacek, Z., Keena, B. A., March, M. E. & Hou, C. & 133 others, O’Connor, N., Bhoj, E. J., Harr, M. H., Lemire, G., Boycott, K. M., Towne, M., Li, M., Tarnopolsky, M., Brady, L., Parker, M. J., Faghfoury, H., Parsley, L. K., Agolini, E., Dentici, M. L., Novelli, A., Wright, M., Palmquist, R., Lai, K., Scala, M., Striano, P., Iacomino, M., Zara, F., Cooper, A., Maarup, T. J., Byler, M., Lebel, R. R., Balci, T. B., Louie, R., Lyons, M., Douglas, J., Nowak, C., Afenjar, A., Hoyer, J., Keren, B., Maas, S. M., Motazacker, M. M., Martinez-Agosto, J. A., Rabani, A. M., McCormick, E. M., Falk, M. J., Ruggiero, S. M., Helbig, I., Møller, R. S., Tessarollo, L., Ardori, F. T., Palko, M. E., Hsieh, T. C., Krawitz, P. M., Ganapathi, M., Gelb, B. D., Jobanputra, V., Wilson, A., Greally, J., Jacquemont, S., Jizi, K., Bruel, A. L., Quelin, C., Misra, V. K., Chick, E., Romano, C., Greco, D., Arena, A., Morleo, M., Nigro, V., Seyama, R., Uchiyama, Y., Matsumoto, N., Taira, R., Tashiro, K., Sakai, Y., Yigit, G., Wollnik, B., Wagner, M., Kutsche, B., Hurst, A. C. E., Thompson, M. L., Schmidt, R., Randolph, L., Spillmann, R. C., Shashi, V., Higginbotham, E. J., Cordeiro, D., Carnevale, A., Costain, G., Khan, T., Funalot, B., Mau-Them, F. T., Garcia Moya, L. F., García-Miñaúr, S., Osmond, M., Chad, L., Quercia, N., Carrasco, D., Li, C., Sanchez-Valle, A., Kelley, M., Nizon, M., Jensson, B. O., Sulem, P., Stefansson, K., Gorokhova, S., Busa, T., Rio, M., Habdallah, H. H., Lesieur-Sebellin, M., Amiel, J., Pingault, V., Mercier, S., Vincent, M., Philippe, C., Fatus-Fauconnier, C., Friend, K., Halligan, R. K., Biswas, S., Rosser, J., Shoubridge, C., Corbett, M., Barnett, C., Gecz, J., Leppig, K., Slavotinek, A., Marcelis, C., Pfundt, R., de Vries, B. B. A., van Slegtenhorst, M. A., Brooks, A. S., Cogne, B., Rambaud, T., Tümer, Z., Zackai, E. H., Akizu, N., Song, Y. & Hakonarson, H., 20 Jan 2024, In: Journal of Clinical Investigation. 134, 1, e171235.

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

    Open Access
    File
    7 Citations (Scopus)
    9 Downloads (Pure)

  • Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

    Genomics England Research Consortium, Claus, L. R., Chen, C., Stallworth, J., Turner, J. L., Slaats, G. G., Hawks, A. L., Mabillard, H., Senum, S. R., Srikanth, S., Flanagan-Steet, H., Louie, R. J., Silver, J., Lerner-Ellis, J., Morel, C., Mighton, C., Sleutels, F., van Slegtenhorst, M., van Ham, T. & Brooks, A. S. & 31 others, Dorresteijn, E. M., Barakat, T. S., Dahan, K., Demoulin, N., Goffin, E. J., Olinger, E., Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Elgar, G., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S. E. A., Leong, I. U. S., Lopez, J. F. & Peters, E., Nov 2023, In: Kidney International. 104, 5, p. 995-1007 13 p.

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

    6 Citations (Scopus)
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