ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease
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
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Published in Orphanet journal of rare diseases (25.06.2020)
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Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice
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Published in Proceedings of the National Academy of Sciences - PNAS (28.03.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (28.03.2017)
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Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
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Published in PLoS genetics (06.08.2021)
Published in PLoS genetics (06.08.2021)
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Diagnosing Alport Syndrome: Lessons from the Pediatric Ward
Vos, Paul, Zietse, Robert, van Geel, Michel, Brooks, Alice S, Cransberg, Karlien
Published in Nephron (2015) (01.01.2018)
Published in Nephron (2015) (01.01.2018)
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The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model
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
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Published in International journal of molecular sciences (16.11.2021)
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TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction
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.
Published in Frontiers in cell and developmental biology (08.07.2022)
Published in Frontiers in cell and developmental biology (08.07.2022)
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A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
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
Published in Frontiers in pediatrics (23.06.2020)
Published in Frontiers in pediatrics (23.06.2020)
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Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems
Brooks, Alice S., Bertoli-Avella, Aida M., Burzynski, Grzegorz M., Breedveld, Guido J., Osinga, Jan, Boven, Ludolf G., Hurst, Jane A., Mancini, Grazia M.S., Lequin, Maarten H., de Coo, Rene F., Matera, Ivana, de Graaff, Esther, Meijers, Carel, Willems, Patrick J., Tibboel, Dick, Oostra, Ben A., Hofstra, Robert M.W.
Published in American journal of human genetics (01.07.2005)
Published in American journal of human genetics (01.07.2005)
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Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes
Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta
Published in Molecular genetics & genomic medicine (01.09.2020)
Published in Molecular genetics & genomic medicine (01.09.2020)
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A Missense Mutation in the Extracellular Domain of α ENaC Causes Liddle Syndrome
Salih, Mahdi, Gautschi, Ivan, van Bemmelen, Miguel X, Di Benedetto, Michael, Brooks, Alice S, Lugtenberg, Dorien, Schild, Laurent, Hoorn, Ewout J
Published in Journal of the American Society of Nephrology (01.11.2017)
Published in Journal of the American Society of Nephrology (01.11.2017)
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SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
Vlaskamp, Danique R M, Shaw, Benjamin J, Burgess, Rosemary, Mei, Davide, Montomoli, Martino, Xie, Han, Myers, Candace T, Bennett, Mark F, XiangWei, Wenshu, Williams, Danielle, Maas, Saskia M, Brooks, Alice S, Mancini, Grazia M S, van de Laar, Ingrid M B H, van Hagen, Johanna M, Ware, Tyson L, Webster, Richard I, Malone, Stephen, Berkovic, Samuel F, Kalnins, Renate M, Sicca, Federico, Korenke, G Christoph, van Ravenswaaij-Arts, Conny M A, Hildebrand, Michael S, Mefford, Heather C, Jiang, Yuwu, Guerrini, Renzo, Scheffer, Ingrid E
Published in Neurology (08.01.2019)
Published in Neurology (08.01.2019)
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Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness
Schlingmann, Karl P, Renigunta, Aparna, Hoorn, Ewout J, Forst, Anna-Lena, Renigunta, Vijay, Atanasov, Velko, Mahendran, Sinthura, Barakat, Tahsin Stefan, Gillion, Valentine, Godefroid, Nathalie, Brooks, Alice S, Lugtenberg, Dorien, Lake, Jennifer, Debaix, Huguette, Rudin, Christoph, Knebelmann, Bertrand, Tellier, Stephanie, Rousset-Rouvière, Caroline, Viering, Daan, de Baaij, Jeroen H F, Weber, Stefanie, Palygin, Oleg, Staruschenko, Alexander, Kleta, Robert, Houillier, Pascal, Bockenhauer, Detlef, Devuyst, Olivier, Vargas-Poussou, Rosa, Warth, Richard, Zdebik, Anselm A, Konrad, Martin
Published in Journal of the American Society of Nephrology (01.06.2021)
Published in Journal of the American Society of Nephrology (01.06.2021)
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Barish, Scott, Barakat, Tahsin Stefan, Michel, Brittany C., Mashtalir, Nazar, Phillips, Jennifer B., Valencia, Alfredo M., Ugur, Berrak, Wegner, Jeremy, Scott, Tiana M., Bostwick, Brett, Murdock, David R., Dai, Hongzheng, Perenthaler, Elena, Nikoncuk, Anita, van Slegtenhorst, Marjon, Brooks, Alice S., Keren, Boris, Nava, Caroline, Mignot, Cyril, Douglas, Jessica, Rodan, Lance, Nowak, Catherine, Ellard, Sian, Stals, Karen, Lynch, Sally Ann, Faoucher, Marie, Lesca, Gaetan, Edery, Patrick, Engleman, Kendra L., Zhou, Dihong, Thiffault, Isabelle, Herriges, John, Gass, Jennifer, Louie, Raymond J., Stolerman, Elliot, Washington, Camerun, Vetrini, Francesco, Otsubo, Aiko, Pratt, Victoria M., Conboy, Erin, Treat, Kayla, Shannon, Nora, Camacho, Jose, Wakeling, Emma, Yuan, Bo, Chen, Chun-An, Rosenfeld, Jill A., Westerfield, Monte, Wangler, Michael, Yamamoto, Shinya, Kadoch, Cigall, Scott, Daryl A., Bellen, Hugo J.
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
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The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction
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
Published in Human molecular genetics (01.01.2023)
Published in Human molecular genetics (01.01.2023)
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Beare-Stevenson Syndrome: Two Dutch Patients With Cerebral Abnormalities
Barge-Schaapveld, Daniela Q.C.M., MD, PhD, Brooks, Alice S., MD, PhD, Lequin, Maarten H., MD, PhD, van Spaendonk, Rosalinda, Vermeulen, R. Jeroen, MD, PhD, Cobben, Jan Maarten, MD, PhD
Published in Pediatric neurology (01.04.2011)
Published in Pediatric neurology (01.04.2011)
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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, de Vries, Bert B A
Published in European journal of human genetics : EJHG (01.05.2016)
Published in European journal of human genetics : EJHG (01.05.2016)
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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Gui, Hongsheng, Schriemer, Duco, Cheng, William W, Chauhan, Rajendra K, Antiňolo, Guillermo, Berrios, Courtney, Bleda, Marta, Brooks, Alice S, Brouwer, Rutger W W, Burns, Alan J, Cherny, Stacey S, Dopazo, Joaquin, Eggen, Bart J L, Griseri, Paola, Jalloh, Binta, Le, Thuy-Linh, Lui, Vincent C H, Luzón-Toro, Berta, Matera, Ivana, Ngan, Elly S W, Pelet, Anna, Ruiz-Ferrer, Macarena, Sham, Pak C, Shepherd, Iain T, So, Man-Ting, Sribudiani, Yunia, Tang, Clara S M, van den Hout, Mirjam C G N, van der Linde, Herma C, van Ham, Tjakko J, van IJcken, Wilfred F J, Verheij, Joke B G M, Amiel, Jeanne, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Lyonnet, Stanislas, Tam, Paul K H, Garcia-Barceló, Maria-Mercè, Hofstra, Robert M W
Published in Genome Biology (08.03.2017)
Published in Genome Biology (08.03.2017)
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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Lecoquierre, François, Punt, A. Mattijs, Ebstein, Frédéric, Wallaard, Ilse, Verhagen, Rob, Studencka-Turski, Maja, Duffourd, Yannis, Moutton, Sébastien, Tran Mau-Them, Frédédic, Philippe, Christophe, Dean, John, Tennant, Stephen, Brooks, Alice S., van Slegtenhorst, Marjon A., Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, England, Eleina M., Martinez Ojeda, Mayra, Engle, Elizabeth C., Robson, Caroline D., Morrow, Michelle, Innes, A. Micheil, Lamont, Ryan, Sanderson, Matthea, Krüger, Elke, Thauvin, Christel, Distel, Ben, Faivre, Laurence, Elgersma, Ype, Vitobello, Antonio
Published in Genetics in medicine (01.06.2024)
Published in Genetics in medicine (01.06.2024)
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Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease
Sribudiani, Yunia, Chauhan, Rajendra K., Alves, Maria M., Petrova, Lucy, Brosens, Erwin, Harrison, Colin, Wabbersen, Tara, de Graaf, Bianca M., Rügenbrink, Tim, Burzynski, Grzegorz, Brouwer, Rutger W.W., van IJcken, Wilfred F.J., Maas, Saskia M., de Klein, Annelies, Osinga, Jan, Eggen, Bart J.L., Burns, Alan J., Brooks, Alice S., Shepherd, Iain T., Hofstra, Robert M.W.
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2018)
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2018)
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Genetics of enteric neuropathies
Brosens, Erwin, Burns, Alan J., Brooks, Alice S., Matera, Ivana, Borrego, Salud, Ceccherini, Isabella, Tam, Paul K., García-Barceló, Maria-Mercè, Thapar, Nikhil, Benninga, Marc A., Hofstra, Robert M.W., Alves, Maria M.
Published in Developmental biology (15.09.2016)
Published in Developmental biology (15.09.2016)
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