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Whole exome sequencing of known eye genes reveals genetic causes for high myopia
Haarman, Annechien E G, Thiadens, Alberta A H J, van Tienhoven, Marianne, Loudon, Sjoukje E, de Klein, J E M M Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J A, Hoefsloot, Lies H, Klaver, Caroline C W, Verhoeven, Virginie J M
Published in Human molecular genetics (29.09.2022)
Published in Human molecular genetics (29.09.2022)
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Journal Article
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Halim, Danny, Brosens, Erwin, Muller, Françoise, Wangler, Michael F., Beaudet, Arthur L., Lupski, James R., Akdemir, Zeynep H. Coban, Doukas, Michael, Stoop, Hans J., de Graaf, Bianca M., Brouwer, Rutger W.W., van Ijcken, Wilfred F.J., Oury, Jean-François, Rosenblatt, Jonathan, Burns, Alan J., Tibboel, Dick, Hofstra, Robert M.W., Alves, Maria M.
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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Journal Article
Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature
van Bever, Yolande, Boers, Ruben G, Brüggenwirth, Hennie T, van IJcken, Wilfred Fj, Magielsen, Frank J, de Klein, Annelies, Boers, Joachim B, Looijenga, Leendert Hj, Brosens, Erwin, Gribnau, Joost, Hannema, Sabine E
Published in Epigenetics (31.12.2024)
Published in Epigenetics (31.12.2024)
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Journal Article
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
Almomani, Rowida, Verhagen, Judith M.A., Herkert, Johanna C., Brosens, Erwin, van Spaendonck-Zwarts, Karin Y., Asimaki, Angeliki, van der Zwaag, Paul A., Frohn-Mulder, Ingrid M.E., Bertoli-Avella, Aida M., Boven, Ludolf G., van Slegtenhorst, Marjon A., van der Smagt, Jasper J., van IJcken, Wilfred F.J., Timmer, Bert, van Stuijvenberg, Margriet, Verdijk, Rob M., Saffitz, Jeffrey E., du Plessis, Frederik A., Michels, Michelle, Hofstra, Robert M.W., Sinke, Richard J., van Tintelen, J. Peter, Wessels, Marja W., Jongbloed, Jan D.H., van de Laar, Ingrid M.B.H.
Published in Journal of the American College of Cardiology (09.02.2016)
Published in Journal of the American College of Cardiology (09.02.2016)
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Journal Article
Cervical ribs and other abnormalities of the vertebral pattern in children with esophageal atresia and anorectal malformations
Schut, Pauline C., Eggink, Alex J., Boersma, Margo, Tibboel, Dick, Wijnen, René M. H., Brosens, Erwin, Dremmen, Marjolein H. G., Cohen-Overbeek, Titia E.
Published in Pediatric research (01.03.2020)
Published in Pediatric research (01.03.2020)
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Journal Article
COllaborative Neonatal Network for the first European CPAM Trial (CONNECT): a study protocol for a randomised controlled trial
Kersten, Casper M, Hermelijn, Sergei M, Dossche, Louis W J, Muthialu, Nagarajan, Losty, Paul D, Schurink, Maarten, Rietman, André B, Poley, Marten J, van Rosmalen, Joost, Zanen - van den Adel, Tabitha P L, Ciet, Pierluigi, von der Thüsen, Jan, Brosens, Erwin, Ijsselstijn, Hanneke, Tiddens, Harm A W M, Wijnen, Rene M H, Schnater, J Marco
Published in BMJ open (17.03.2023)
Published in BMJ open (17.03.2023)
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Journal Article
Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas
Brosens, Erwin, Felix, Janine F., Boerema-de Munck, Anne, de Jong, Elisabeth M., Lodder, Elisabeth M., Swagemakers, Sigrid, Buscop-van Kempen, Marjon, de Krijger, Ronald R., Wijnen, Rene M. H., van IJcken, Wilfred F. J., van der Spek, Peter, de Klein, Annelies, Tibboel, Dick, Rottier, Robbert J.
Published in PloS one (17.11.2020)
Published in PloS one (17.11.2020)
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Journal Article
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing
Haarman, Annechien E.G., Klaver, Caroline C.W., Tedja, Milly S., Roosing, Susanne, Astuti, Galuh, Gilissen, Christian, Hoefsloot, Lies H., van Tienhoven, Marianne, Brands, Tom, Magielsen, Frank J., Eussen, Bert H.J.F.M.M., de Klein, Annelies, Brosens, Erwin, Verhoeven, Virginie J.M.
Published in Ophthalmology science (Online) (01.12.2023)
Published in Ophthalmology science (Online) (01.12.2023)
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Journal Article
8q Gain Has No Additional Predictive Value in SF3B1MUT Uveal Melanoma but Is Predictive for a Worse Prognosis in Patients with BAP1MUT Uveal Melanoma
Nguyen, Josephine Q.N., Drabarek, Wojtek, Vaarwater, Jolanda, Yavuzyigitoglu, Serdar, Verdijk, Robert M., Paridaens, Dion, Naus, Nicole C., de Klein, Annelies, Brosens, Erwin, Kiliç, Emine, Kilic, Emine, de Klein, Annelies, Brosens, Erwin, Naus, Nicole C., Paridaens, Dion, Yavuzyigitoglu, Serdar, Drabarek, Wojtek, Nguyen, Josephine Q.N., Vaarwater, Jolanda, Verdijk, Robert M.
Published in Ophthalmology science (Online) (01.03.2024)
Published in Ophthalmology science (Online) (01.03.2024)
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Journal Article
Selection of potential targets for stratifying congenital pulmonary airway malformation patients with molecular imaging: is MUC1 the one?
van Horik, Cathy, Zuidweg, Marius J.P., Boerema-de Munck, Anne, Buscop-van Kempen, Marjon, Brosens, Erwin, Vahrmeijer, Alexander L., von der Thüsen, Jan H., Wijnen, René M.H., Rottier, Robbert J., Tummers, Willemieke S.F.J., Schnater, J. Marco
Published in European respiratory review (31.12.2023)
Published in European respiratory review (31.12.2023)
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Journal Article
Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7
Bouwman, Linde F., Joosen, Milou E.M., Buijsen, Ronald A.M., van der Graaf, Linda M., Pepers, Barry A., Voesenek, Bas J.B., Brosens, Erwin, van de Warrenburg, Bart P.C., van Roon-Mom, Willeke M.C.
Published in Stem cell research (01.08.2024)
Published in Stem cell research (01.08.2024)
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Journal Article
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations
van de Putte, Romy, Wijers, Charlotte H. W., Reutter, Heiko, Vermeulen, Sita H., Marcelis, Carlo L. M., Brosens, Erwin, Broens, Paul M. A., Homberg, Markus, Ludwig, Michael, Jenetzky, Ekkehart, Zwink, Nadine, Sloots, Cornelius E. J., de Klein, Annelies, Brooks, Alice S., Hofstra, Robert M. W., Holsink, Sophie A. C., van der Zanden, Loes F. M., Galesloot, Tessel E., Tam, Paul Kwong-Hang, Steehouwer, Marloes, Acuna-Hidalgo, Rocio, Vorst, Maartje van de, Kiemeney, Lambertus A., Garcia-Barceló, Maria-Mercè, de Blaauw, Ivo, Brunner, Han G., Roeleveld, Nel, van Rooij, Iris A. L. M.
Published in PloS one (28.05.2019)
Published in PloS one (28.05.2019)
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Journal Article
Is Tissue Still the Issue? The Promise of Liquid Biopsy in Uveal Melanoma
de Bruyn, Daniël P., Beasley, Aaron B., Verdijk, Robert M., van Poppelen, Natasha M., Paridaens, Dion, de Keizer, Ronald O. B., Naus, Nicole C., Gray, Elin S., de Klein, Annelies, Brosens, Erwin, Kiliç, Emine
Published in Biomedicines (21.02.2022)
Published in Biomedicines (21.02.2022)
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Journal Article
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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Journal Article
Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
Gaillard, Linda, Goverde, Anne, van den Bosch, Quincy C. C., Jehee, Fernanda S., Brosens, Erwin, Veenma, Danielle, Magielsen, Frank, de Klein, Annelies, Mathijssen, Irene M. J., van Dooren, Marieke F.
Published in Frontiers in pediatrics (26.11.2021)
Published in Frontiers in pediatrics (26.11.2021)
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Journal Article
Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge
Brosens, Erwin, Peters, Nina C. J., van Weelden, Kim S., Bendixen, Charlotte, Brouwer, Rutger W. W., Sleutels, Frank, Bruggenwirth, Hennie T., van Ijcken, Wilfred F. J., Veenma, Danielle C. M., Otter, Suzan C. M. Cochius-Den, Wijnen, Rene M. H., Eggink, Alex J., van Dooren, Marieke F., Reutter, Heiko Martin, Rottier, Robbert J., Schnater, J. Marco, Tibboel, Dick, de Klein, Annelies
Published in Frontiers in pediatrics (03.02.2022)
Published in Frontiers in pediatrics (03.02.2022)
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Journal Article
High C-Reactive Protein Levels Are Related to Better Survival in Patients with Uveal Melanoma
Meijer, Nikki, de Bruyn, Daniël P., de Klein, Annelies, Paridaens, Dion, Verdijk, Robert M., Berendschot, Tos T.J. M., Brosens, Erwin, Jager, Martine J., Kiliç, Emine
Published in Ophthalmology science (Online) (01.06.2022)
Published in Ophthalmology science (Online) (01.06.2022)
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Journal Article
Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts
Veenma, Danielle, Brosens, Erwin, de Jong, Elisabeth, van de Ven, Cees, Meeussen, Connie, Cohen-Overbeek, Titia, Boter, Marjan, Eussen, Hubertus, Douben, Hannie, Tibboel, Dick, de Klein, Annelies
Published in European journal of human genetics : EJHG (01.03.2012)
Published in European journal of human genetics : EJHG (01.03.2012)
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Journal Article