Educational paper: Syndromic forms of primary immunodeficiency

Yazar: Kersseboom, Rogier, Brooks, Alice, Weemaes, Corry
Baskı/Yayın Bilgisi 2011

A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome

Yazar: Salih, Mahdi, Gautschi, Ivan, van Bemmelen, Miguel X., Di Benedetto, Michael, Brooks, Alice S., Lugtenberg, Dorien, Schild, Laurent, Hoorn, Ewout J.
Yayımlandı J Am Soc Nephrol (2017)

Clinical aspects of a large group of adults with Angelman syndrome

Yazar: 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.
Yayımlandı Am J Med Genet A (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...

Yazar: 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
Yayımlandı Mol Genet Genomic Med (2020)

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

Yazar: 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
Yayımlandı Mol Genet Genomic Med (2020)

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

Yazar: Bliek, Jet, Alders, Marielle, Maas, Saskia M, Oostra, Roelof-Jan, Mackay, Deborah M, van der Lip, Karin, Callaway, Johnatan L, Brooks, Alice, van 't Padje, Sandra, Westerveld, Andries, Leschot, Nico J, Mannens, Marcel MAM
Baskı/Yayın Bilgisi 2009

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

Yazar: Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Schneidman-Duhovny, Dina, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.
Yayımlandı Eur J Hum Genet (2019)

Structural and numerical changes of chromosome X in patients with esophageal atresia

Yazar: Brosens, Erwin, de Jong, Elisabeth M, Barakat, Tahsin Stefan, Eussen, Bert H, D'haene, Barbara, De Baere, Elfride, Verdin, Hannah, Poddighe, Pino J, Galjaard, Robert-Jan, Gribnau, Joost, Brooks, Alice S, Tibboel, Dick, de Klein, Annelies
Baskı/Yayın Bilgisi 2014

Identifying Candidate Hirschsprung Disease–Associated RET Variants

Yazar: Burzynski, Grzegorz M., Nolte, Ilja M., Bronda, Agnes, Bos, Krista K., Osinga, Jan, Plaza Menacho, Ivan, Twigt, Bas, Maas, Saskia, Brooks, Alice S., Verheij, Joke B. G. M., Buys, Charles H. C. M., Hofstra, Robert M. W.
Baskı/Yayın Bilgisi 2005

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

Yazar: 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.
Yayımlandı Hum Mol Genet (2010)

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

Yazar: 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.
Yayımlandı Am J Med Genet A (2019)

Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

Yazar: 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. 
Baskı/Yayın Bilgisi 2005

ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

Yazar: 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.
Yayımlandı Orphanet J Rare Dis (2020)

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

Yazar: 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.
Yayımlandı PLoS Genet (2017)

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

Yazar: 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.
Yayımlandı Hum Mutat (2020)

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

Yazar: 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.
Yayımlandı PLoS Genet (2017)

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

Yazar: 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.
Yayımlandı Acta Obstet Gynecol Scand (2020)

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice

Yazar: Halim, Danny, Wilson, Michael P., Oliver, Daniel, Brosens, Erwin, Verheij, Joke B. G. M., Han, Yu, Nanda, Vivek, Lyu, Qing, Doukas, Michael, Stoop, Hans, Brouwer, Rutger W. W., van IJcken, Wilfred F. J., Slivano, Orazio J., Burns, Alan J., Christie, Christine K., de Mesy Bentley, Karen L., Brooks, Alice S., Tibboel, Dick, Xu, Suowen, Jin, Zheng Gen, Djuwantono, Tono, Yan, Wei, Alves, Maria M., Hofstra, Robert M. W., Miano, Joseph M.
Yayımlandı Proc Natl Acad Sci U S A (2017)

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

Yazar: Brosens, Erwin, Marsch, Florian, de Jong, Elisabeth M, Zaveri, Hitisha P, Hilger, Alina C, Choinitzki, Vera Gisela, Hölscher, Alice, Hoffmann, Per, Herms, Stefan, Boemers, Thomas M, Ure, Benno M, Lacher, Martin, Ludwig, Michael, Eussen, Bert H, van der Helm, Robert M, Douben, Hannie, Van Opstal, Diane, Wijnen, Rene M H, Beverloo, H Berna, van Bever, Yolande, Brooks, Alice S, IJsselstijn, Hanneke, Scott, Daryl A, Schumacher, Johannes, Tibboel, Dick, Reutter, Heiko, de Klein, Annelies
Yayımlandı Eur J Hum Genet (2016)

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

Yazar: 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
Yayımlandı Front Pediatr (2020)