Educational paper: Syndromic forms of primary immunodeficiency

por Kersseboom, Rogier, Brooks, Alice, Weemaes, Corry
Publicado 2011

Clinical aspects of a large group of adults with Angelman syndrome

por den Besten, Inge, de Jong, Rianne F., Geerts‐Haages, Amber, Bruggenwirth, Hennie T., Koopmans, Marije, Brooks, Alice, Elgersma, Ype, Festen, Dederieke A. M., Valstar, Marlies J.
Publicado 2020

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman...

por Geerts‐Haages, Amber, Bossuyt, Stijn N. V., den Besten, Inge, Bruggenwirth, Hennie, van der Burgt, Ineke, Yntema, Helger G., Punt, A. Mattijs, Brooks, Alice, Elgersma, Ype, Distel, Ben, Valstar, Marlies
Publicado 2020

Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology

por Brosens, Erwin, Brouwer, Rutger W. W., Douben, Hannie, van Bever, Yolande, Brooks, Alice S., Wijnen, Rene M. H., van IJcken, Wilfred F. J., Tibboel, Dick, Rottier, Robbert J., de Klein, Annelies
Publicado 2021

Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

por Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta
Publicado 2020

TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction

por Zada, Almira, Kuil, Laura E., de Graaf, Bianca M., Kakiailatu, Naomi, Windster, Jonathan D., Brooks, Alice S., van Slegtenhorst, Marjon, de Koning, Barbara, Wijnen, René M. H., Melotte, Veerle, Hofstra, Robert M. W., Brosens, Erwin, Alves, Maria M.
Publicado 2022

KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation

por Alves, Maria M., Burzynski, Grzegorz, Delalande, Jean-Marie, Osinga, Jan, van der Goot, Annemieke, Dolga, Amalia M., de Graaff, Esther, Brooks, Alice S., Metzger, Marco, Eisel, Ulrich L.M., Shepherd, Iain, Eggen, Bart J.L., Hofstra, Robert M.W.
Publicado 2010

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

por Bindels‐de Heus, Karen G. C. B., Mous, Sabine E., ten Hooven‐Radstaake, Maartje, van Iperen‐Kolk, Bianca M., Navis, Cindy, Rietman, André B., ten Hoopen, Leontine W., Brooks, Alice S., Elgersma, Ype, Moll, Henriëtte A., de Wit, Marie‐Claire Y.
Publicado 2019

The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction

por Zada, Almira, Zhao, Yuying, Halim, Danny, Windster, Jonathan, van der Linde, Herma C, Glodener, Jackleen, Overkleeft, Sander, de Graaf, Bianca M, Verdijk, Robert M, Brooks, Alice S, Shepherd, Iain, Gao, Ya, Burns, Alan J, Hofstra, Robert M W, Alves, Maria M
Publicado 2022

ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

por Kyrklund, Kristiina, Sloots, Cornelius E. J., de Blaauw, Ivo, Bjørnland, Kristin, Rolle, Udo, Cavalieri, Duccio, Francalanci, Paola, Fusaro, Fabio, Lemli, Annette, Schwarzer, Nicole, Fascetti-Leon, Francesco, Thapar, Nikhil, Johansen, Lars Søndergaard, Berrebi, Dominique, Hugot, Jean-Pierre, Crétolle, Célia, Brooks, Alice S., Hofstra, Robert M., Wester, Tomas, Pakarinen, Mikko P.
Publicado 2020

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

por Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M., Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A. Jeannette M., Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H., van Slegtenhorst, Marjon, Dobyns, William B., de Coo, Irenaeus F. M., Verheijen, Frans W., Kremer, Andreas, van der Spek, Peter J., Heijsman, Daphne, Wagner, Eric J., Fornerod, Maarten, Mancini, Grazia M. S.
Publicado 2017

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

por MacKenzie, Katherine C., de Graaf, Bianca M., Syrimis, Andreas, Zhao, Yuying, Brosens, Erwin, Mancini, Grazia M. S., Schot, Rachel, Halley, Dicky, Wilke, Martina, Vøllo, Arve, Flinter, Frances, Green, Andrew, Mansour, Sahar, Pilch, Jacek, Stark, Zornitza, Zamba‐Papanicolaou, Eleni, Christophidou‐Anastasiadou, Violetta, Hofstra, Robert M. W., Jongbloed, Jan D. H., Nicolaou, Nayia, Tanteles, George A., Brooks, Alice S., Alves, Maria M.
Publicado 2020

The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model

por MacKenzie, Katherine C., Garritsen, Rhiana, Chauhan, Rajendra K., Sribudiani, Yunia, de Graaf, Bianca M., Rugenbrink, Tim, Brouwer, Rutger, van Ijcken, Wilfred F. J., de Blaauw, Ivo, Brooks, Alice S., Sloots, Cornelius E. J., Meeuwsen, Conny J. H. M., Wijnen, René M., Newgreen, Donald F., Burns, Alan J., Hofstra, Robert M. W., Alves, Maria M., Brosens, Erwin
Publicado 2021

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

por Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M., Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A. Jeannette M., Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H., van Slegtenhorst, Marjon, Dobyns, William B., de Coo, Irenaeus F. M., van den Berg, Debbie, Verheijen, Frans W., Kremer, Andreas, van der Spek, Peter J., Heijsman, Daphne, Wagner, Eric J., Fornerod, Maarten, Mancini, Grazia M. S.
Publicado 2017

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

por Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, van Slegtenhorst, Marjon A., van Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., van de Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.
Publicado 2020

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development

por Kuil, Laura E., MacKenzie, Katherine C., Tang, Clara S., Windster, Jonathan D., Le, Thuy Linh, Karim, Anwarul, de Graaf, Bianca M., van der Helm, Robert, van Bever, Yolande, Sloots, Cornelius E. J., Meeussen, Conny, Tibboel, Dick, de Klein, Annelies, Wijnen, René M. H., Amiel, Jeanne, Lyonnet, Stanislas, Garcia-Barcelo, Maria-Mercè, Tam, Paul K. H., Alves, Maria M., Brooks, Alice S., Hofstra, Robert M. W., Brosens, Erwin
Publicado 2021

Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

por Kaiser, Fabian M.P., Gruenbacher, Sarah, Oyaga, Maria Roa, Nio, Enzo, Jaritz, Markus, Sun, Qiong, van der Zwaag, Wietske, Kreidl, Emanuel, Zopf, Lydia M., Dalm, Virgil A.S.H., Pel, Johan, Gaiser, Carolin, van der Vliet, Rick, Wahl, Lucas, Rietman, André, Hill, Louisa, Leca, Ines, Driessen, Gertjan, Laffeber, Charlie, Brooks, Alice, Katsikis, Peter D., Lebbink, Joyce H.G., Tachibana, Kikuë, van der Burg, Mirjam, De Zeeuw, Chris I., Badura, Aleksandra, Busslinger, Meinrad
Publicado 2022

Correction: Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

por Kaiser, Fabian M.P., Gruenbacher, Sarah, Oyaga, Maria Roa, Nio, Enzo, Jaritz, Markus, Sun, Qiong, van der Zwaag, Wietske, Kreidl, Emanuel, Zopf, Lydia M., Dalm, Virgil A.S.H., Pel, Johan, Gaiser, Carolin, van der Vliet, Rick, Wahl, Lucas, Rietman, André, Hill, Louisa, Leca, Ines, Driessen, Gertjan, Laffeber, Charlie, Brooks, Alice, Katsikis, Peter D., Lebbink, Joyce H.G., Tachibana, Kikuë, van der Burg, Mirjam, De Zeeuw, Chris I., Badura, Aleksandra, Busslinger, Meinrad
Publicado 2022

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

por van de Putte, Romy, Dworschak, Gabriel C., Brosens, Erwin, Reutter, Heiko M., Marcelis, Carlo L. M., Acuna-Hidalgo, Rocio, Kurtas, Nehir E., Steehouwer, Marloes, Dunwoodie, Sally L., Schmiedeke, Eberhard, Märzheuser, Stefanie, Schwarzer, Nicole, Brooks, Alice S., de Klein, Annelies, Sloots, Cornelius E. J., Tibboel, Dick, Brisighelli, Giulia, Morandi, Anna, Bedeschi, Maria F., Bates, Michael D., Levitt, Marc A., Peña, Alberto, de Blaauw, Ivo, Roeleveld, Nel, Brunner, Han G., van Rooij, Iris A. L. M., Hoischen, Alexander
Publicado 2020

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

por van Woerden, Geeske M., Senden, Richelle, de Konink, Charlotte, Trezza, Rossella A., Baban, Anwar, Bassetti, Jennifer A., van Bever, Yolande, Bird, Lynne M., van Bon, Bregje W., Brooks, Alice S., Guan, Qiaoning, Klee, Eric W., Marcelis, Carlo, Rosado, Joel M., Schimmenti, Lisa A., Shikany, Amy R., Terhal, Paulien A., Nicole Weaver, Kathryn, Wessels, Marja W., van Wieringen, Hester, Hurst, Anna C., Gooch, Catherine F., Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet
Publicado 2022