dr. Alice Brooks

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  • 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 othersMerla, G., Alders, M. M., Bouman, A. & Sadikovic, B., Mar 2024, In: Genetics in Medicine. 26, 3, 101041.

    Research output: Contribution to journalArticleAcademicpeer-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 othersO’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 journalArticleAcademicpeer-review

    Open Access
    File
    1 Citation (Scopus)
  • 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 othersDorresteijn, 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 journalArticleAcademicpeer-review

    3 Citations (Scopus)
  • Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

    on behalf of RADICON-NL consortium, Olde Keizer, R. A. C. M., Marouane, A., Kerstjens-Frederikse, W. S., Deden, A. C., Lichtenbelt, K. D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L. S., Sinke, R. J., Pfundt, R., Stevens, S. J. C., Andriessen, P., van Lingen, R. A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C., & 31 othersvan Amstel, H. K. P., de Boode, W. P., van Zelst-Stams, W., Frederix, G. W. J., Vissers, L. E. L. M., Henneman, L., van Haelst, M. M., Sistermans, E. A., Cornel, M. C., Misra-Isrie, M., Mannens, M. M. A. M., Waisfisz, Q., van Hagen, J. M., Brooks, A. S., Barakat, T. S., Hoefsloot, E. H., van Lingen, R. A., Ruivenkamp, C. A. L., Koene, S., Rutten, J. W., de Koning, B., Stevens, S. J. C., van den Wijngaard, A., Stegmann, A. P. A., Deden, A. C., Rodenburg, W., Sinke, R. J., van der Velde, K. J., de Vries, L. S., Frederix, G. W. J. & Oegema, R., Jun 2023, In: European Journal of Pediatrics. 182, 6, p. 2683-2692 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
    File
    2 Citations (Scopus)
    10 Downloads (Pure)
  • Sleep problems in children with Angelman Syndrome: The effect of a behavioral intervention program

    Bindels-de Heus, K. G. C. B., Hooven-Radstaake, M. T., ENCORE Expertisecenter for AS, Legerstee, J. S., Hoopen, L. W. T., Dieleman, G. C., Moll, H. A., Mous, S. E. & de Wit, M. C. Y., Apr 2023, In: Research in Developmental Disabilities. 135, 104444.

    Research output: Contribution to journalArticleAcademicpeer-review

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