De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
Rodan, Lance H., Anyane‐Yeboa, Kwame, Chong, Karen, Klein Wassink‐Ruiter, Jolien S., Wilson, Ashley, Smith, Lacey, Kothare, Sanjeev V., Rajabi, Farrah, Blaser, Susan, Ni, Min, DeBerardinis, Ralph J., Poduri, Annapurna, Berry, Gerard T.
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Diagnosis of hepatocellular adenoma in men before onset of diabetes in HNF1A‐MODY: Watch out for winkers
Haring, Martijn P. D., Vriesendorp, Titia M., Klein Wassink‐Ruiter, Jolien S., Haas, Robbert J., Gouw, Annette S. H., Meijer, Vincent E.
Published in Liver international (01.11.2019)
Published in Liver international (01.11.2019)
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Stessman, Holly A.F., Willemsen, Marjolein H., Fenckova, Michaela, Penn, Osnat, Hoischen, Alexander, Xiong, Bo, Wang, Tianyun, Hoekzema, Kendra, Vives, Laura, Vogel, Ida, Brunner, Han G., van der Burgt, Ineke, Ockeloen, Charlotte W., Schuurs-Hoeijmakers, Janneke H., Klein Wassink-Ruiter, Jolien S., Stumpel, Connie, Stevens, Servi J.C., Vles, Hans S., Marcelis, Carlo M., van Bokhoven, Hans, Cantagrel, Vincent, Colleaux, Laurence, Nicouleau, Michael, Lyonnet, Stanislas, Bernier, Raphael A., Gerdts, Jennifer, Coe, Bradley P., Romano, Corrado, Alberti, Antonino, Grillo, Lucia, Scuderi, Carmela, Nordenskjöld, Magnus, Kvarnung, Malin, Guo, Hui, Xia, Kun, Piton, Amélie, Gerard, Bénédicte, Genevieve, David, Delobel, Bruno, Lehalle, Daphne, Perrin, Laurence, Prieur, Fabienne, Thevenon, Julien, Gecz, Jozef, Shaw, Marie, Pfundt, Rolph, Keren, Boris, Jacquette, Aurelia, Schenck, Annette, Eichler, Evan E., Kleefstra, Tjitske
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions
Stevens, Servi J.C., van Ravenswaaij-Arts, Conny M.A., Janssen, Jannie W.H., Klein Wassink-Ruiter, Jolien S., van Essen, Anthonie J., Dijkhuizen, Trijnie, van Rheenen, Jeroen, Heuts-Vijgen, Regina, Stegmann, Alexander P.A., Smeets, Eric E.J.G.L., Engelen, John J.M.
Published in American journal of medical genetics. Part A (01.11.2011)
Published in American journal of medical genetics. Part A (01.11.2011)
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De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
Smits, Jeroen J., Oostrik, Jaap, Beynon, Andy J., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, Koole, Wouter, Feenstra, Ilse, Admiraal, Ronald J. C., Lanting, Cornelis P., Schraders, Margit, Yntema, Helger G., Pennings, Ronald J. E., Kremer, Hannie
Published in Human genetics (01.01.2019)
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Novel membrane frizzled‐related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds
Wasmann, Rosemarie A., Wassink‐Ruiter, Jolien S. Klein, Sundin, Olof H., Morales, Elisa, Verheij, Joke B. G. M., Pott, Jan Willem R.
Published in Acta ophthalmologica (Oxford, England) (01.05.2014)
Published in Acta ophthalmologica (Oxford, England) (01.05.2014)
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Kerstjens-Frederikse, Wilhelmina S., van de Laar, Ingrid M.B.H., Vos, Yvonne J., Verhagen, Judith M.A., Berger, Rolf M.F., Lichtenbelt, Klaske D., Klein Wassink-Ruiter, Jolien S., van der Zwaag, Paul A., du Marchie Sarvaas, Gideon J., Bergman, Klasien A., Bilardo, Catia M., Roos-Hesselink, Jolien W., Janssen, Johan H.P., Frohn-Mulder, Ingrid M., van Spaendonck-Zwarts, Karin Y., van Melle, Joost P., Hofstra, Robert M.W., Wessels, M.W.
Published in Genetics in medicine (01.09.2016)
Published in Genetics in medicine (01.09.2016)
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Published in Brain (London, England : 1878) (01.01.2019)
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Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A., Haaxma, Charlotte A., Veenstra-Knol, Hermine E., Wassink-Ruiter, Jolien S. Klein, Wevers, Marijke R., Jones, Melissa, Walsh, Laurence E., Klee, Victoria H., Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E.S., Kurian, Manju A., Mohammad, Shekeeb S., Dale, Russell C., Terhal, Paulien A., van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogné, Benjamin, Isidor, Bertrand, Grebe, Theresa A., Kulch, Peggy, Hainline, Bryan E., Sapp, Katherine, Morava, Eva, Klee, Eric W., Macke, Erica L., Trapane, Pamela, Spencer, Christopher, Si, Yue, Begtrup, Amber, Moulton, Matthew J., Dutta, Debdeep, Kanca, Oguz, Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Tan, Queenie K.-G.
Published in American journal of human genetics (02.09.2021)
Published in American journal of human genetics (02.09.2021)
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Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
Witteveen, Josefine S, Willemsen, Marjolein H, Dombroski, Thaís C D, van Bakel, Nick H M, Nillesen, Willy M, van Hulten, Josephus A, Jansen, Eric J R, Verkaik, Dave, Veenstra-Knol, Hermine E, van Ravenswaaij-Arts, Conny M A, Wassink-Ruiter, Jolien S Klein, Vincent, Marie, David, Albert, Le Caignec, Cedric, Schieving, Jolanda, Gilissen, Christian, Foulds, Nicola, Rump, Patrick, Strom, Tim, Cremer, Kirsten, Zink, Alexander M, Engels, Hartmut, de Munnik, Sonja A, Visser, Jasper E, Brunner, Han G, Martens, Gerard J M, Pfundt, Rolph, Kleefstra, Tjitske, Kolk, Sharon M
Published in Nature genetics (01.08.2016)
Published in Nature genetics (01.08.2016)
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De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
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Published in European journal of human genetics : EJHG (01.05.2019)
Published in European journal of human genetics : EJHG (01.05.2019)
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El Chehadeh, Salima, Kerstjens-Frederikse, Wilhelmina S, Thevenon, Julien, Kuentz, Paul, Bruel, Ange-Line, Thauvin-Robinet, Christel, Bensignor, Candace, Dollfus, Hélène, Laugel, Vincent, Rivière, Jean-Baptiste, Duffourd, Yannis, Bonnet, Caroline, Robert, Matthieu P, Isaiko, Rodica, Straub, Morgane, Creuzot-Garcher, Catherine, Calvas, Patrick, Chassaing, Nicolas, Loeys, Bart, Reyniers, Edwin, Vandeweyer, Geert, Kooy, Frank, Hančárová, Miroslava, Havlovicová, Marketa, Prchalová, Darina, Sedláček, Zdenek, Gilissen, Christian, Pfundt, Rolph, Wassink-Ruiter, Jolien S Klein, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R., Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J., Schnur, Rhonda E., Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J., Masser-Frye, Diane, Bird, Lynne M., Lindstrom, Kristin, Ramsey, Keri M., Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G., Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H., Klein Wassink-Ruiter, Jolien S., Bijlsma, Emilia, Hoffer, Mariëtte, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A., Machol, Keren, Scott, Daryl A., Bacino, Carlos A., Wang, Xia, Clark, Gary D., Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H., Akay, Ela, Chang, Richard C., Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E., Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W., Lefebvre, Véronique, Clark, Karl J., Depienne, Christel
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Widening of the genetic and clinical spectrum of Lamb–Shaffersyndrome, a neurodevelopmental disorder due to SOX5haploinsufficiency
Ash, Zawerton, Mignot Cyril, Sigafoos Ashley, Blackburn, Patrick R, Haseeb Abdul, McWalter Kirsty, Ichikawa Shoji, Nava, Caroline, Keren, Boris, Perrine, Charles, Marey Isabelle, Tabet Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca Gaetan, Schluth-Bolard Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto Maria J, Schnur, Rhonda E, Zhu Zehua, Poisson, Alice, Salima, El Chehadeh, Alembik Yves, Ange-Line, Bruel, Lehalle Daphné, Nambot Sophie, Moutton Sébastien, Odent Sylvie, Jaillard Sylvie, Dubourg Christèle, Hilhorst-Hofstee Yvonne, Barbaro-Dieber Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter Jolien S, Bijlsma Emilia, Hoffer, Mariëtte J, Vargas, Marcelo, Wojcik Antonina, Cherik Florian, Francannet Christine, Rosenfeld, Jill A, Machol Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay Ela, Chang, Richard C, Bressi Rebekah, Sanchez Russo Rossana, Srour Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Maries, Joseph, Nizon Mathilde, Cogné Benjamin, Kuechler Alma, Piton Amélie, Klee, Eric W, Lefebvre Véronique, Clark, Karl J, Depienne Christel
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay
Chong, Jessica X, Mcmillin, Margaret J, Shively, Kathryn M, Beck, Anita E, Marvin, Colby T, Armenteros, Jose R, Buckingham, Kati J, Nkinsi, Naomi T, Boyle, Evan A, Berry, Margaret N, Bocian, Maureen, Foulds, Nicola, Maria Luisa Giovannucci Uzielli, Haldeman-Englert, Chad, Raoul Cm Hennekam, Kaplan, Paige, Kline, Antonie D, Mercer, Catherine L, Nowaczyk, Malgorzata Jm, Jolien S Klein Wassink-Ruiter, Mcpherson, Elizabeth W, Moreno, Regina A, Scheuerle, Angela E, Shashi, Vandana, Stevens, Cathy A, Carey, John C, Monteil, Arnaud, Lory, Philippe, Tabor, Holly K, Smith, Joshua D, Shendure, Jay, Nickerson, Deborah A, Bamshad, Michael J
Published in bioRxiv (11.01.2015)
Published in bioRxiv (11.01.2015)
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