De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Britt-Marie M., Wood, Stephen A., Cheung, Sau Wai, Barnicoat, Angela, Probst, Frank, Magoulas, Pilar, Brooks, Alice S., Malmgren, Helena, Harila-Saari, Arja, Marcelis, Carlo M., Vreeburg, Maaike, Hobson, Emma, Sutton, V. Reid, Stark, Zornitza, Vogt, Julie, Cooper, Nicola, Lim, Jiin Ying, Price, Sue, Lai, Angeline Hwei Meeng, Domingo, Deepti, Reversade, Bruno, Gecz, Jozef, Gilissen, Christian, Brunner, Han G., Kini, Usha, Roepman, Ronald, Nordgren, Ann, Kleefstra, Tjitske
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies
De Vos, Winnok H., Houben, Frederik, Kamps, Miriam, Malhas, Ashraf, Verheyen, Fons, Cox, Juliën, Manders, Erik M.M., Verstraeten, Valerie L.R.M., van Steensel, Maurice A.M., Marcelis, Carlo L.M., van den Wijngaard, Arthur, Vaux, David J., Ramaekers, Frans C.S., Broers, Jos L.V.
Published in Human molecular genetics (01.11.2011)
Published in Human molecular genetics (01.11.2011)
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Journal Article
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
van de Putte, Romy, van Rooij, Iris A. L. M., Marcelis, Carlo L. M., Guo, Michel, Brunner, Han G., Addor, Marie-Claude, Cavero-Carbonell, Clara, Dias, Carlos M., Draper, Elizabeth S., Etxebarriarteun, Larraitz, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Kurinczuk, Jenny J., Lanzoni, Monica, Latos-Bielenska, Anna, Luyt, Karen, O’Mahony, Mary T., Miller, Nicola, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wiesel, Awi, Zymak-Zakutnia, Natalya, Loane, Maria, Barisic, Ingeborg, de Walle, Hermien E. K., Roeleveld, Nel, Bergman, Jorieke E. H.
Published in Pediatric research (01.02.2020)
Published in Pediatric research (01.02.2020)
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A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
Neveling, Kornelia, Feenstra, Ilse, Gilissen, Christian, Hoefsloot, Lies H., Kamsteeg, Erik-Jan, Mensenkamp, Arjen R., Rodenburg, Richard J. T., Yntema, Helger G., Spruijt, Liesbeth, Vermeer, Sascha, Rinne, Tuula, van Gassen, Koen L., Bodmer, Danielle, Lugtenberg, Dorien, de Reuver, Rick, Buijsman, Wendy, Derks, Ronny C., Wieskamp, Nienke, van den Heuvel, Bert, Ligtenberg, Marjolijn J.L., Kremer, Hannie, Koolen, David A., van de Warrenburg, Bart P.C., Cremers, Frans P.M., Marcelis, Carlo L.M., Smeitink, Jan A.M., Wortmann, Saskia B., van Zelst-Stams, Wendy A.G., Veltman, Joris A., Brunner, Han G., Scheffer, Hans, Nelen, Marcel R.
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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Journal Article
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation
Verstraeten, Valerie L.R.M., Broers, Jos L.V., van Steensel, Maurice A.M., Zinn-Justin, Sophie, Ramaekers, Frans C.S., Steijlen, Peter M., Kamps, Miriam, Kuijpers, Helma J.H., Merckx, Diane, Smeets, Hubert J.M., Hennekam, Raoul C.M., Marcelis, Carlo L.M., van den Wijngaard, Arthur
Published in Human molecular genetics (15.08.2006)
Published in Human molecular genetics (15.08.2006)
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Journal Article
PLS3 Mutations in X-Linked Osteoporosis with Fractures
van Dijk, Fleur S, Zillikens, M. Carola, Micha, Dimitra, Riessland, Markus, Marcelis, Carlo L.M, de Die-Smulders, Christine E, Milbradt, Janine, Franken, Anton A, Harsevoort, Arjan J, Lichtenbelt, Klaske D, Pruijs, Hans E, Rubio-Gozalbo, M. Estela, Zwertbroek, Rolf, Moutaouakil, Youssef, Egthuijsen, Jaqueline, Hammerschmidt, Matthias, Bijman, Renate, Semeins, Cor M, Bakker, Astrid D, Everts, Vincent, Klein-Nulend, Jenneke, Campos-Obando, Natalia, Hofman, Albert, te Meerman, Gerard J, Verkerk, Annemieke J.M.H, Uitterlinden, André G, Maugeri, Alessandra, Sistermans, Erik A, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Wirth, Brunhilde, Simon, Marleen E.H, Pals, Gerard
Published in The New England journal of medicine (17.10.2013)
Published in The New England journal of medicine (17.10.2013)
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Journal Article
Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias
van de Putte, Romy, Wijers, Charlotte H. W., de Blaauw, Ivo, Feitz, Wout F. J., Marcelis, Carlo L. M., Hakobjan, Marina, Sloots, Cornelius E. J., van Bever, Yolande, Brunner, Han G., Roeleveld, Nel, van Rooij, Iris A. L. M., van der Zanden, Loes F. M.
Published in European journal of pediatrics (01.05.2015)
Published in European journal of pediatrics (01.05.2015)
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Journal Article
Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review
Wijers, Charlotte H. W., van Rooij, Iris A. L. M., Marcelis, Carlo L. M., Brunner, Han G., de Blaauw, Ivo, Roeleveld, Nel
Published in Birth defects research. Part C. Embryo today (01.12.2014)
Published in Birth defects research. Part C. Embryo today (01.12.2014)
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Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers
Claes, Godelieve R F, van Tienen, Florence H J, Lindsey, Patrick, Krapels, Ingrid P C, Helderman-van den Enden, Apollonia T J M, Hoos, Marije B, Barrois, Yvette E G, Janssen, Johanna W H, Paulussen, Aimée D C, Sels, Jan-Willem E M, Kuijpers, Simone H H, van Tintelen, J Peter, van den Berg, Maarten P, Heesen, Wilfred F, Garcia-Pavia, Pablo, Perrot, Andreas, Christiaans, Imke, Salemink, Simone, Marcelis, Carlo L M, Smeets, Hubert J M, Brunner, Han G, Volders, Paul G A, van den Wijngaard, Arthur
Published in European heart journal (14.06.2016)
Published in European heart journal (14.06.2016)
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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
Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted
van den Hondel, Desiree, Wijers, Charlotte H. W., van Bever, Yolande, de Klein, Annelies, Marcelis, Carlo L. M., de Blaauw, Ivo, Sloots, Cornelius E. J., IJsselstijn, Hanneke
Published in European journal of pediatrics (01.04.2016)
Published in European journal of pediatrics (01.04.2016)
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Journal Article
High T2-weighted signal intensity for risk prediction of sudden cardiac death in hypertrophic cardiomyopathy
Gommans, D. H. Frank, Cramer, G. Etienne, Bakker, Jeannette, Dieker, Hendrik-Jan, Michels, Michelle, Fouraux, Michael A., Marcelis, Carlo L. M., Verheugt, Freek W. A., Timmermans, Janneke, Brouwer, Marc A., Kofflard, Marcel J. M.
Published in The International Journal of Cardiovascular Imaging (01.01.2018)
Published in The International Journal of Cardiovascular Imaging (01.01.2018)
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Journal Article
Prediction of Extensive Myocardial Fibrosis in Nonhigh Risk Patients With Hypertrophic Cardiomyopathy
Gommans, D.H. Frank, Cramer, G. Etienne, Fouraux, Michael A., Bakker, Jeannette, Michels, Michelle, Dieker, Hendrik-Jan, Timmermans, Janneke, Marcelis, Carlo L.M., Verheugt, Freek W.A., de Boer, Menko-Jan, Kofflard, Marcel J.M., de Boer, Rudolf A., Brouwer, Marc A.
Published in The American journal of cardiology (01.08.2018)
Published in The American journal of cardiology (01.08.2018)
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Journal Article
Constructing "best interests": Genetic testing of children in families with hypertrophic cardiomyopathy
Geelen, Els, Van Hoyweghen, Ine, Doevendans, Pieter A., Marcelis, Carlo L.M., Horstman, Klasien
Published in American journal of medical genetics. Part A (01.08.2011)
Published in American journal of medical genetics. Part A (01.08.2011)
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Journal Article
Genotype-phenotype correlations in MYCN-related Feingold syndrome
Marcelis, Carlo L.M, Hol, Frans A, Graham, Gail E, Rieu, Paul N.M.A, Kellermayer, Richard, Meijer, Rowdy P.P, Lugtenberg, Dorien, Scheffer, Hans, van Bokhoven, Hans, Brunner, Han G, de Brouwer, Arjan P.M
Published in Human mutation (01.09.2008)
Published in Human mutation (01.09.2008)
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Journal Article
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations
Wijers, Charlotte H. W., de Blaauw, Ivo, Marcelis, Carlo L. M., Wijnen, Rene M. H., Brunner, Han, Midrio, Paola, Gamba, Piergiorgio, Clementi, Maurizio, Jenetzky, Ekkehart, Zwink, Nadine, Reutter, Heiko, Bartels, Enrika, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Hosie, Stuart, Märzheuser, Stefanie, Schmiedeke, Eberhard, Crétolle, Célia, Sarnacki, Sabine, Levitt, Marc A., Knoers, Nine V. A. M., Roeleveld, Nel, van Rooij, Iris A. L. M.
Published in Pediatric surgery international (01.11.2010)
Published in Pediatric surgery international (01.11.2010)
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Journal Article
Maternal risk factors for the VACTERL association: A EUROCAT case–control study
Putte, Romy, Rooij, Iris A.L.M., Haanappel, Cynthia P., Marcelis, Carlo L.M., Brunner, Han G., Addor, Marie‐Claude, Cavero‐Carbonell, Clara, Dias, Carlos M., Draper, Elizabeth S., Etxebarriarteun, Larraitz, Gatt, Miriam, Khoshnood, Babak, Kinsner‐Ovaskainen, Agnieszka, Klungsoyr, Kari, Kurinczuk, Jenny J., Latos‐Bielenska, Anna, Luyt, Karen, O'Mahony, Mary T., Miller, Nicola, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wiesel, Awi, Zymak‐Zakutnia, Natalya, Loane, Maria, Barisic, Ingeborg, Walle, Hermien E.K., Bergman, Jorieke E.H., Roeleveld, Nel
Published in Birth defects research (15.05.2020)
Published in Birth defects research (15.05.2020)
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Journal Article
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Yung Gee, Heon, Dworschak, Gabriel C., Tasic, Velibor, Pennimpede, Tracie, Natarajan, Sivakumar, Sperry, Ethan, Matassa, Danilo S., Stajić, Nataša, Bogdanovic, Radovan, de Blaauw, Ivo, Marcelis, Carlo L.M., Wijers, Charlotte H.W., Bartels, Enrika, Schmiedeke, Eberhard, Schmidt, Dominik, Märzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöthen, Markus M., Draaken, Markus, Brosens, Erwin, Heij, Hugo, Tibboel, Dick, Herrmann, Bernhard G., Solomon, Benjamin D., de Klein, Annelies, van Rooij, Iris A.L.M., Esposito, Franca, Reutter, Heiko M., Hildebrandt, Friedhelm
Published in Kidney international (01.06.2014)
Published in Kidney international (01.06.2014)
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Journal Article
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress
Verstraeten, Valerie L.R.M., Caputo, Sandrine, Van Steensel, Maurice A.M., Duband‐Goulet, Isabelle, Zinn‐Justin, Sophie, Kamps, Miriam, Kuijpers, Helma J.H., Östlund, Cecilia, Worman, Howard J., Briedé, Jacob J., Le Dour, Caroline, Marcelis, Carlo L.M., Van Geel, Michel, Steijlen, Peter M., Van Den Wijngaard, Arthur, Ramaekers, Frans C.S., Broers, Jos L.V.
Published in Journal of cellular and molecular medicine (01.05.2009)
Published in Journal of cellular and molecular medicine (01.05.2009)
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Journal Article
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
Teunissen, Maria W A, Lewerissa, Elly, van Hugte, Eline J H, Wang, Shan, Ockeloen, Charlotte W, Koolen, David A, Pfundt, Rolph, Marcelis, Carlo L M, Brilstra, Eva, Howe, Jennifer L, Scherer, Stephen W, Le Guillou, Xavier, Bilan, Frédéric, Primiano, Michelle, Roohi, Jasmin, Piton, Amelie, de Saint Martin, Anne, Baer, Sarah, Seiffert, Simone, Platzer, Konrad, Jamra, Rami Abou, Syrbe, Steffen, Doering, Jan H, Lakhani, Shenela, Nangia, Srishti, Gilissen, Christian, Vermeulen, R Jeroen, Rouhl, Rob P W, Brunner, Han G, Willemsen, Marjolein H, Nadif Kasri, Nael
Published in Human molecular genetics (04.07.2023)
Published in Human molecular genetics (04.07.2023)
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