Search

Your search keyword '"Van Gassen, Koen L."' showing total 331 results
Start Over Author "Van Gassen, Koen L."
331 results on '"Van Gassen, Koen L."'

2. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Author

Gong, Maolei, Li, Jiayi, Qin, Zailong, Machado Bressan Wilke, Matheus Vernet, Liu, Yijun, Li, Qian, Liu, Haoran, Liang, Chen, Morales-Rosado, Joel A., Cohen, Ana S.A., Hughes, Susan S., Sullivan, Bonnie R., Waddell, Valerie, van den Boogaard, Marie-José H., van Jaarsveld, Richard H., van Binsbergen, Ellen, van Gassen, Koen L., Wang, Tianyun, Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Zhao, Jianbo, Feng, Weixing, Ren, Changhong, Yu, Yazhen, Boczek, Nicole J., Ferber, Matthew J., Lahner, Carrie, Elliott, Sherr, Ruan, Yiyan, Mignot, Cyril, Keren, Boris, Xie, Hua, Wang, Xiaoyan, Popp, Bernt, Zweier, Christiane, Piard, Juliette, Coubes, Christine, Mau-Them, Frederic Tran, Safraou, Hana, Innes, A. Micheil, Gauthier, Julie, Michaud, Jacques L., Koboldt, Daniel C., Sylvie, Odent, Willems, Marjolaine, Tan, Wen-Hann, Cogne, Benjamin, Rieubland, Claudine, Braun, Dominique, McLean, Scott Douglas, Platzer, Konrad, Zacher, Pia, Oppermann, Henry, Evenepoel, Lucie, Blanc, Pierre, El Khattabi, Laïla, Haque, Neshatul, Dsouza, Nikita R., Zimmermann, Michael T., Urrutia, Raul, Klee, Eric W., Shen, Yiping, Du, Hongzhen, Rappaport, Leonard, Liu, Chang-Mei, and Chen, Xiaoli

Published
2024
Full Text
View/download PDF

4. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Author

Gong, Maolei, primary, Li, Jiayi, additional, Liu, Yijun, additional, Matheus, Vernet Machado Bressan Wilk, additional, Li, Qian, additional, Liu, Haoran, additional, Liang, Chen, additional, Joel A, Morales-Rosado, additional, Cohen, Ana S.A., additional, Hughes, Susan S., additional, Sullivan, Bonnie R, additional, Waddell, Valerie, additional, Henriette van den Boogaard, Marie Jose, additional, van Jaarsveld, Richard H., additional, Binsbergen, Ellen van, additional, van Gassen, Koen L, additional, Wang, Tianyun, additional, Hiatt, Susan M., additional, Amaral, Michelle D., additional, Kelley, Whitley V., additional, Zhao, Jianbo, additional, Feng, Weixing, additional, Ren, Changhong, additional, Yu, Yazhen, additional, Boczek, Nicole J, additional, Ferber, Matthew J., additional, Lahner, Carrie, additional, Elliott, Sherr, additional, Ruan, Yiyan, additional, Mignot, Cyril, additional, Keren, Boris, additional, Xie, Hua, additional, Wang, Xiaoyan, additional, Popp, Bernt, additional, Zweier, Christiane, additional, Piard, Juliette, additional, Coubes, Christine, additional, Tran-Mau-Them, Frederic, additional, Safraou, Hana, additional, Innes, Micheil, additional, Gauthier, Julie, additional, Michaud, Jacques L, additional, Koboldt, Daniel C., additional, Sylvie, ODENT, additional, Willems, Marjolaine, additional, Tan, Wen-Hann, additional, Cogne, Benjamin, additional, Rieubland, Claudine, additional, Braun, Dominique, additional, McLean, Scott Douglas, additional, Platzer, Konrad, additional, Zacher, Pia, additional, Oppermann, Henry, additional, Evenepoel, Lucie, additional, BLANC, Pierre, additional, Khattabi, Laila El, additional, Haque, Neshatul, additional, Dsouza, Nikita R., additional, Zimmermann, Michael T, additional, Urrutia, Raul A, additional, Klee, Eric W, additional, Shen, Yiping, additional, Du, Hong-Zhen, additional, Qin, Zailong, additional, Liu, Chang-Mei, additional, and chen, xiaoli, additional

Published
2024
Full Text
View/download PDF

5. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Author

Zou, Fanggeng, McWalter, Kirsty, Schmidt, Lindsay, Decker, Amy, Picker, Jonathan D, Lincoln, Sharyn, Sweetser, David A, Briere, Lauren C, Harini, Chellamani, Network, Members of the Undiagnosed Diseases, Marsh, Eric, Medne, Livija, Wang, Raymond Y, Leydiker, Karen, Mower, Andrew, Visser, Gepke, Cuppen, Inge, van Gassen, Koen L, van der Smagt, Jasper, Yousaf, Adeel, Tennison, Michael, Shanmugham, Anita, Butler, Elizabeth, Richard, Gabriele, and McKnight, Dianalee

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Epilepsy, Neurodegenerative, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Adolescent, Child, Female, Humans, Infant, Intellectual Disability, Male, Motor Disorders, Movement Disorders, Muscle Hypotonia, Mutation, Missense, Pedigree, Phenotype, Receptors, GABA-A, Severity of Illness Index, Speech Disorders, genetics, seizures, GABRG2, phenotype, missense, Members of the Undiagnosed Diseases Network, Clinical Sciences, Neurology & Neurosurgery
Abstract

Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent, de novo missense variant (c0.316 G > A; p.A106T) in the GABRG2 gene that was identified in five unrelated individuals. These patients were described to have a more severe phenotype than previously reported for GABRG2 missense variants. Common features include variable early-onset seizures, significant motor and speech delays, intellectual disability, hypotonia, movement disorder, dysmorphic features and vision/ocular issues. Our report further explores a recurrent pathogenic missense variant within the GABRG2 variant family and broadens the spectrum of associated phenotypes for GABRG2-associated disorders.

Published
2017

6. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Author

Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., and Lorenzo, Damaris N.

Published
2021
Full Text
View/download PDF

8. LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome

Author

Cluster C, Endocrinologie, Child Health, Genetica Klinische Genetica, Genetica, Genetica Sectie Genoomdiagnostiek, Pozojevic, Jelena, Sivaprasad, Radhika, Laß, Joshua, Haarich, Franziska, Trinh, Joanne, Kakar, Naseebullah, Schulz, Kristin, Händler, Kristian, Verrijn Stuart, Annemarie A., Giltay, Jacques C., van Gassen, Koen L., Caliebe, Almuth, Holterhus, Paul Martin, Spielmann, Malte, Hornig, Nadine C., Cluster C, Endocrinologie, Child Health, Genetica Klinische Genetica, Genetica, Genetica Sectie Genoomdiagnostiek, Pozojevic, Jelena, Sivaprasad, Radhika, Laß, Joshua, Haarich, Franziska, Trinh, Joanne, Kakar, Naseebullah, Schulz, Kristin, Händler, Kristian, Verrijn Stuart, Annemarie A., Giltay, Jacques C., van Gassen, Koen L., Caliebe, Almuth, Holterhus, Paul Martin, Spielmann, Malte, and Hornig, Nadine C.

Published
2024

9. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

Author

Integrale & Alg. Kindergen Patientenzorg, Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Brain, Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E H, van Jaarsveld, Richard H, Oegema, Renske, van Gassen, Koen L I, Holwerda, Sjoerd J B, Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y, Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K, Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan, Integrale & Alg. Kindergen Patientenzorg, Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Brain, Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E H, van Jaarsveld, Richard H, Oegema, Renske, van Gassen, Koen L I, Holwerda, Sjoerd J B, Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y, Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K, Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, and Kindler, Stefan

Published
2024

10. Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders

Author

Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, Legros, Christian, Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, and Legros, Christian

Abstract

Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy. To date, HCN2 variants have only been associated with mild epilepsy and recently, one monoallelic missense variant has been linked to developmental and epileptic encephalopathy. Here, we expand the phenotypic spectrum of HCN2- related disorders by describing twenty-one additional individuals from fifteen unrelated families carrying HCN2 variants. Seventeen individuals had developmental delay/intellectual disability (DD/ID), two had borderline DD/ID, and one had borderline DD. Ten individuals had epilepsy with DD/ID, with median age of onset of 10 months, and one had epilepsy with normal development. Molecular diagnosis identified thirteen different pathogenic HCN2 variants, including eleven missense variants affecting highly conserved amino acids, one frameshift variant, and one in-frame deletion. Seven variants were monoallelic of which five occurred de novo, one was not maternally inherited, one was inherited from a father with mild learning disabilities, and one was of unknown inheritance. The remaining six variants were biallelic, with four homozygous and two compound heterozygous variants. Functional studies using two-electrode voltage-clamp recordings in Xenopus laevis oocytes were performed on three monoallelic variants, p.(Arg324His), p.(Ala363Val), and p.(Met374Leu), and three biallelic variants, p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp). The p.(Arg324His) variant induced a strong increase of HCN2 conductance, while p.(Ala363Val) and p.(Met374Leu) displayed dominant negative effects, leading to a partial loss of HCN2 channel function. By confocal imaging, we found that the p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp) pathogenic variants impaired membrane trafficking, resulting in a complete loss of HCN2 elicited

Published
2024

11. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R. F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C. O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E. H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L. I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M. C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., and Kleefstra, Tjitske

Published
2021
Full Text
View/download PDF

14. Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12

Author

de Sain-van der Velden, Monique G. M., Kuper, Willemijn F. E., Kuijper, Marie-Anne, van Kats, Lenneke A. T., Prinsen, Hubertus C. M. T., Balemans, Astrid C. J., Visser, Gepke, van Gassen, Koen L. I., van Hasselt, Peter M., Baumgartner, Matthias, Series Editor, Patterson, Marc, Series Editor, Rahman, Shamima, Series Editor, Peters, Verena, Series Editor, Morava, Eva, Editor-in-Chief, and Zschocke, Johannes, Series Editor

Published
2018
Full Text
View/download PDF

15. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Author

Gillentine, Madelyn A., Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N., De Vries, Bert B. A., Vissers, Lisenka E. L. M., Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A., Bhat, Gifty, Cobian, Katherine, Bird, Lynne M., Friedman, Jennifer, Wright, Meredith S., Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K., White, Kerry M., Elpeleg, Orly, Berger, Itai, Espineli, Edward J., Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L. Manace, Mckee, Shane, Mirzaa, Ghayda M., Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E. H., van Gassen, Koen L. I., Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K., Nowakowski, Tomasz, Bernier, Raphael A., and Eichler, Evan E.

Published
2021
Full Text
View/download PDF

16. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Author

Flex, Elisabetta, Martinelli, Simone, Van Dijck, Anke, Ciolfi, Andrea, Cecchetti, Serena, Coluzzi, Elisa, Pannone, Luca, Andreoli, Cristina, Radio, Francesca Clementina, Pizzi, Simone, Carpentieri, Giovanna, Bruselles, Alessandro, Catanzaro, Giuseppina, Pedace, Lucia, Miele, Evelina, Carcarino, Elena, Ge, Xiaoyan, Chijiwa, Chieko, Lewis, M.E. Suzanne, Meuwissen, Marije, Kenis, Sandra, Van der Aa, Nathalie, Larson, Austin, Brown, Kathleen, Wasserstein, Melissa P., Skotko, Brian G., Begtrup, Amber, Person, Richard, Karayiorgou, Maria, Roos, J. Louw, Van Gassen, Koen L., Koopmans, Marije, Bijlsma, Emilia K., Santen, Gijs W.E., Barge-Schaapveld, Daniela Q.C.M., Ruivenkamp, Claudia A.L., Hoffer, Mariette J.V., Lalani, Seema R., Streff, Haley, Craigen, William J., Graham, Brett H., van den Elzen, Annette P.M., Kamphuis, Daan J., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, Wojcik, Monica H., Viberti, Clara, Di Gaetano, Cornelia, Bertini, Enrico, Petrucci, Simona, De Luca, Alessandro, Rota, Rossella, Ferretti, Elisabetta, Matullo, Giuseppe, Dallapiccola, Bruno, Sgura, Antonella, Walkiewicz, Magdalena, Kooy, R. Frank, and Tartaglia, Marco

Published
2019
Full Text
View/download PDF

17. De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Author

Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruzhnikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, and Vissers, Lisenka E.L.M.

Published
2019
Full Text
View/download PDF

18. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Author

Johnston, Jennifer J., van der Smagt, Jasper J., Rosenfeld, Jill A., Pagnamenta, Alistair T., Alswaid, Abdulrahman, Baker, Eva H., Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B., van Gassen, Koen L., Gulsuner, Suleyman, Harr, Margaret H., Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A., McDonald-McGinn, Donna M., Can, Ngoc Thi Bich, Peleg, Amir, Roeder, Elizabeth R., Rogers, R.Curtis, Sagi-Dain, Lena, Sapp, Julie C., Schäffer, Alejandro A., Schanze, Denny, Stewart, Helen, Taylor, Jenny C., Verbeek, Nienke E., Walkiewicz, Magdalena A., Zackai, Elaine H., Zweier, Christiane, Zenker, Martin, Lee, Brendan, and Biesecker, Leslie G.

Published
2018
Full Text
View/download PDF

19. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Author

Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E. L. M., and de Vries, Bert B. A.

Published
2019
Full Text
View/download PDF

20. Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., and van Hasselt, Peter M.

Published
2019
Full Text
View/download PDF

21. A New Approach for Fast Metabolic Diagnostics in CMAMMA

Author

de Sain-van der Velden, Monique G. M., van der Ham, Maria, Jans, Judith J., Visser, Gepke, Prinsen, Hubertus C. M. T., Verhoeven-Duif, Nanda M., van Gassen, Koen L. I., van Hasselt, Peter M., Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2016
Full Text
View/download PDF

24. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., and van Hasselt, Peter M.

Published
2021
Full Text
View/download PDF

25. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Author

Morleo, Manuela, Venditti, Rossella, Theodorou, Evangelos, Briere, Lauren C, Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, Al-Badri, Nour, High, Frances A, Shi, Jiahai, Putti, Elena, Ferrante, Luigi, Cetrangolo, Viviana, Torella, Annalaura, Walker, Melissa A, Tenconi, Romano, Iascone, Maria, Mei, Davide, Guerrini, Renzo, van der Smagt, Jasper, Kroes, Hester Y, van Gassen, Koen L I, Bilal, Muhammad, Umair, Muhammad, Pingault, Veronica, Attie-Bitach, Tania, Amiel, Jeannine, Ejaz, Resham, Rodan, Lance, Zollino, Marcella, Agrawal, Pankaj B, Del Bene, Filippo, Nigro, Vincenzo, Sweetser, David A, Franco, Brunella, Morleo, Manuela, Venditti, Rossella, Theodorou, Evangelo, Briere, Lauren C, Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, Al-Badri, Nour, High, Frances A, Shi, Jiahai, Putti, Elena, Ferrante, Luigi, Cetrangolo, Viviana, Torella, Annalaura, Walker, Melissa A, Tenconi, Romano, Iascone, Maria, Mei, Davide, Guerrini, Renzo, van der Smagt, Jasper, Kroes, Hester Y, van Gassen, Koen L I, Bilal, Muhammad, Umair, Muhammad, Pingault, Veronica, Attie-Bitach, Tania, Amiel, Jeannine, Ejaz, Resham, Rodan, Lance, Zollino, Marcella, Agrawal, Pankaj B, Del Bene, Filippo, Nigro, Vincenzo, Sweetser, David A, and Franco, Brunella

Subjects
PIP5K1C, developmental delay, intellectual disability, phosphatidylinositol 4,5 bisphosphate (PI(4,5)P(2)), de novo gain-of-function variant, zebrafish, endosome, phosphoinositide
Abstract

Phosphoinositides (PIs) are membrane phospholipids produced through the local activity of PI kinases and phosphatases that selectively add or remove phosphate groups from the inositol head group. PIs control membrane composition and play key roles in many cellular processes including actin dynamics, endosomal trafficking, autophagy, and nuclear functions. Mutations in phosphatidylinositol 4,5 bisphosphate [PI(4,5)P2] phosphatases cause a broad spectrum of neurodevelopmental disorders such as Lowe and Joubert syndromes and congenital muscular dystrophy with cataracts and intellectual disability, which are thus associated with increased levels of PI(4,5)P2. Here, we describe a neurodevelopmental disorder associated with an increase in the production of PI(4,5)P2 and with PI-signaling dysfunction. We identified three de novo heterozygous missense variants in PIP5K1C, which encodes an isoform of the phosphatidylinositol 4-phosphate 5-kinase (PIP5KIγ), in nine unrelated children exhibiting intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features. We provide evidence that the PIP5K1C variants result in an increase of the endosomal PI(4,5)P2 pool, giving rise to ectopic recruitment of filamentous actin at early endosomes (EEs) that in turn causes dysfunction in EE trafficking. In addition, we generated an invivo zebrafish model that recapitulates the disorder we describe with developmental defects affecting the forebrain, including the eyes, as well as craniofacial abnormalities, further demonstrating the pathogenic effect of the PIP5K1C variants.

Published
2023

27. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

Author

Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C. A. J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J. A., van Gassen, Koen L., van Rooij, Iris A. L. M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M. H. F., Renkema, Kirsten Y., Knoers, Nine V. A. M., van Reeuwijk, Jeroen, and Lilien, Marc R.

Published
2018
Full Text
View/download PDF

28. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Author

Kievit, Anneke, Tessadori, Federico, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo, Motter, Connie, Melver, Catherine, Cunningham, Michael, Hing, Anne, Kokitsu-Nakata, Nancy M., Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio, Baas, Annette F., Breugem, Corstiaan C., Duran, Karen, Massink, Maarten, Derksen, Patrick W. B., van IJcken, Wilfred F. J., van Unen, Leontine, Santos-Simarro, Fernando, Lapunzina, Pablo, Gil-da Silva Lopes, Vera L., Lustosa-Mendes, Elaine, Krall, Max, Slavotinek, Anne, Martinez-Glez, Victor, Bakkers, Jeroen, van Gassen, Koen L. I., de Klein, Annelies, van den Boogaard, Marie-José H., and van Haaften, Gijs

Published
2018
Full Text
View/download PDF

29. Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Author

Monroe, Glen R., Frederix, Gerardus W., Savelberg, Sanne M.C., de Vries, Tamar I., Duran, Karen J., van der Smagt, Jasper J., Terhal, Paulien A., van Hasselt, Peter M., Kroes, Hester Y., Verhoeven-Duif, Nanda M., Nijman, Isaäc J., Carbo, Ellen C., van Gassen, Koen L., Knoers, Nine V., Hövels, Anke M., van Haelst, Mieke M., Visser, Gepke, and van Haaften, Gijs

Published
2016
Full Text
View/download PDF

30. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author

Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, The DDD study, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., and Campeau, Philippe M.

Published
2019
Full Text
View/download PDF

31. Identification of human D lactate dehydrogenase deficiency

Author

Monroe, Glen R., van Eerde, Albertien M., Tessadori, Federico, Duran, Karen J., Savelberg, Sanne M. C., van Alfen, Johanna C., Terhal, Paulien A., van der Crabben, Saskia N., Lichtenbelt, Klaske D., Fuchs, Sabine A., Gerrits, Johan, van Roosmalen, Markus J., van Gassen, Koen L., van Aalderen, Mirjam, Koot, Bart G., Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J., Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G. M., Knoers, Nine V., Bakkers, Jeroen, Verhoeven-Duif, Nanda M., van Haaften, Gijs, and Jans, Judith J.

Published
2019
Full Text
View/download PDF

32. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author

Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, The DDD study, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., and Campeau, Philippe M.

Published
2019
Full Text
View/download PDF

33. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author

Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, The DDD study, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., and Campeau, Philippe M.

Published
2018
Full Text
View/download PDF

34. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Author

Cuinat, Silvestre, primary, Nizon, Mathilde, additional, Isidor, Bertrand, additional, Stegmann, Alexander, additional, van Jaarsveld, Richard H., additional, van Gassen, Koen L., additional, van der Smagt, Jasper J., additional, Volker-Touw, Catharina M.L., additional, Holwerda, Sjoerd J.B., additional, Terhal, Paulien A., additional, Schuhmann, Sarah, additional, Vasileiou, Georgia, additional, Khalifa, Mohamed, additional, Nugud, Alaa A., additional, Yasaei, Hemad, additional, Ousager, Lilian Bomme, additional, Brasch-Andersen, Charlotte, additional, Deb, Wallid, additional, Besnard, Thomas, additional, Simon, Marleen E.H., additional, Amsterdam, Karin Huijsdens-van, additional, Verbeek, Nienke E., additional, Matalon, Dena, additional, Dykzeul, Natalie, additional, White, Shana, additional, Spiteri, Elizabeth, additional, Devriendt, Koen, additional, Boogaerts, Anneleen, additional, Willemsen, Marjolein, additional, Brunner, Han G., additional, Sinnema, Margje, additional, De Vries, Bert B.A., additional, Gerkes, Erica H., additional, Pfundt, Rolph, additional, Izumi, Kosuke, additional, Krantz, Ian D., additional, Xu, Zhou L., additional, Murrell, Jill R., additional, Valenzuela, Irene, additional, Cusco, Ivon, additional, Rovira-Moreno, Eulàlia, additional, Yang, Yaping, additional, Bizaoui, Varoona, additional, Patat, Olivier, additional, Faivre, Laurence, additional, Tran-Mau-Them, Frederic, additional, Vitobello, Antonio, additional, Denommé-Pichon, Anne-Sophie, additional, Philippe, Christophe, additional, Bezieau, Stéphane, additional, and Cogné, Benjamin, additional

Published
2022
Full Text
View/download PDF

35. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H, van Gassen, Koen L, van der Smagt, Jasper J, Volker-Touw, Catharina M L, Holwerda, Sjoerd J B, Terhal, Paulien A, Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A, Yasaei, Hemad, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Deb, Wallid, Besnard, Thomas, Simon, Marleen E H, Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E, Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G, Sinnema, Margje, De Vries, Bert B A, Gerkes, Erica H, Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D, Xu, Zhou L, Murrell, Jill R, Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, Cogné, Benjamin, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H, van Gassen, Koen L, van der Smagt, Jasper J, Volker-Touw, Catharina M L, Holwerda, Sjoerd J B, Terhal, Paulien A, Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A, Yasaei, Hemad, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Deb, Wallid, Besnard, Thomas, Simon, Marleen E H, Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E, Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G, Sinnema, Margje, De Vries, Bert B A, Gerkes, Erica H, Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D, Xu, Zhou L, Murrell, Jill R, Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, and Cogné, Benjamin

Published
2022

36. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Author

Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M, Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y, Oegema, Renske, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale, Nawara, Magdalena, Rzońca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmüller, Janine, Krause, Roland, May, Patrick, Becker, Felicitas, Balling, Rudi, Biskup, Saskia, Haas, Stefan A, Nürnberg, Peter, van Gassen, Koen L I, Lerche, Holger, Zara, Federico, Maljevic, Snezana, and Leshinsky-Silver, Esther

Published
2017
Full Text
View/download PDF

37. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

Author

Møller, Rikke S., Wuttke, Thomas V., Helbig, Ingo, Marini, Carla, Johannesen, Katrine M., Brilstra, Eva H., Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L., Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T., Larsen, Line H.G., Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L., Dahl, Hans A., Tommerup, Niels, Mefford, Heather C., Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R., Lerche, Holger, Muhle, Hiltrud, and Maljevic, Snezana

Published
2017
Full Text
View/download PDF

40. Additional file 3 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Author

Gillentine, Madelyn A., Tianyun Wang, Hoekzema, Kendra, Rosenfeld, Jill, Pengfei Liu, Guo, Hui, Kim, Chang N., De Vries, Bert B. A., Lisenka E. L. M. Vissers, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Siddharth Srivastava, Paldeep Atwal, Bacino, Carlos A., Gifty Bhat, Cobian, Katherine, Bird, Lynne M., Friedman, Jennifer, Wright, Meredith S., Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Celenie K. Christensen, White, Kerry M., Elpeleg, Orly, Berger, Itai, Espineli, Edward J., Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Suneeta Madan-Khetarpal, Sebastian, Jessica, Vento, Jodie, Vats, Divya, L. Manace Benman, Mckee, Shane, Ghayda M. Mirzaa, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E. H., Van Gassen, Koen L. I., Simpson, Kara, Stratton, Robert, Sabeen Syed, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K., Nowakowski, Tomasz, Bernier, Raphael A., and Eichler, Evan E.

Subjects
Data_FILES
Abstract

Additional file 3: Table S13. GenBank accession numbers.

Published
2021
Full Text
View/download PDF

41. Additional file 2 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Author

Gillentine, Madelyn A., Tianyun Wang, Hoekzema, Kendra, Rosenfeld, Jill, Pengfei Liu, Guo, Hui, Kim, Chang N., De Vries, Bert B. A., Lisenka E. L. M. Vissers, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Siddharth Srivastava, Paldeep Atwal, Bacino, Carlos A., Gifty Bhat, Cobian, Katherine, Bird, Lynne M., Friedman, Jennifer, Wright, Meredith S., Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Celenie K. Christensen, White, Kerry M., Elpeleg, Orly, Berger, Itai, Espineli, Edward J., Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Suneeta Madan-Khetarpal, Sebastian, Jessica, Vento, Jodie, Vats, Divya, L. Manace Benman, Mckee, Shane, Ghayda M. Mirzaa, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E. H., Van Gassen, Koen L. I., Simpson, Kara, Stratton, Robert, Sabeen Syed, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K., Nowakowski, Tomasz, Bernier, Raphael A., and Eichler, Evan E.

Abstract

Additional file 2: Supplementary Figures S1-S5. Fig. S1. Dendrogram of hnRNPs based on multiple sequence alignment of canonical amino acid sequences. Colors match those seen in Fig. 2. NDD hnRNPs are shown in black boxes. Fig. S2. Pathogenicity assessment of variation in hnRNPs. A) Gene Variation Intolerance Ranking (GeVIR), loss-of-function observed/expected upper bound fraction (LOEUF), and Variation Intolerant Region Loss-of-Function (VIRLoF) percentiles. Average LOEUF percentile is significantly higher for NDD HNRNPs (n = 13) compared to other HNRNPs (n = 15). B) Average fold change for GeVIR, LEOUF, and VIRLoF for autosomal dominant (AD) and autosomal recessive (AR) variants. Average LEOUF fold change for AD mutations is significantly higher for NDD HNRNPs compared to other HNRNPs, with the AD VIRLoF fold change trending in the same direction. The AR LEOUF fold change is trending towards being significantly higher among other HNRNPs compared to NDD HNRNPs. One-way t-test. * p

Published
2021
Full Text
View/download PDF

42. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes (Genetics in Medicine, (2019), 21, 2, (319-330), 10.1038/s41436-018-0048-y)

Author

Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., and van Hasselt, Peter M.

Abstract

The reported QARS deficient patient carries the QARS1 mutation (NM_005051.2) c.793C>T p.(Arg265Cys and not Arg25Cys). In addition, in Fig. 5, the reported p.Lys476* in QARS1 should have been p.Lys496* (Kodera H, Osaka H, Iai M, et al. Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet. 2015;60:97–101. https://doi.org/10.1038/ jhg.2014.103). Finally, we have been informed that the patient described by Datta et al. (Datta A, Ferguson A, Simonson C, et al. Case report: QARS deficiency and favorable outcome following treatment of seizures with ketogenic diet. J Child Neurol. 2017;32(4):403–407. https://doi. org/10.1177/0883073816685508) is the same patient previously published by Salvarinova et al. (Salvarinova R, Ye CX, Rossi A, et al. Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities. Neurogenetics. 2015;16(2):145–149. https://doi.org/10.1007/s10048-014-0432-y), and this patient is compound heterozygous for the nonsense variant c.1387C>T (p.Arg463*) and the missense variant c.2226G>C (p.Gln742His). These points have now been corrected in both the PDF and HTML versions of the Article.

Published
2020
Full Text
View/download PDF

43. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Author

Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L I, Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, and van Gassen, Koen L I

Published
2020

44. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Author

Genetica Klinische Genetica, Child Health, CMM Groep Cuppen, Cancer, Arts-assistenten Radiologie, Other research (not in main researchprogram), Pathologie Pathologen staf, MKA/BT Onderzoek, Poli BT 9A-MFP, Opleiding Neurologie, MS Oogheelkunde, Infection & Immunity, CMM, Genetica, Genetica Sectie Genoomdiagnostiek, Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L I, Genetica Klinische Genetica, Child Health, CMM Groep Cuppen, Cancer, Arts-assistenten Radiologie, Other research (not in main researchprogram), Pathologie Pathologen staf, MKA/BT Onderzoek, Poli BT 9A-MFP, Opleiding Neurologie, MS Oogheelkunde, Infection & Immunity, CMM, Genetica, Genetica Sectie Genoomdiagnostiek, Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, and van Gassen, Koen L I

Published
2020

45. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Metabole ziekten onderzoek 2, Pathologie Groep Derksen, Pathologie Pathologen staf, Cancer, Genetica, Genetica Sectie Genoomdiagnostiek, MS Neonatologie, Infection & Immunity, MDL patientenzorg, Cluster C, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, van Hasselt, Peter M, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Metabole ziekten onderzoek 2, Pathologie Groep Derksen, Pathologie Pathologen staf, Cancer, Genetica, Genetica Sectie Genoomdiagnostiek, MS Neonatologie, Infection & Immunity, MDL patientenzorg, Cluster C, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, and van Hasselt, Peter M

Published
2020

46. The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

Author

Metabole ziekten onderzoek 1, Genetica Sectie Genoomdiagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Infection & Immunity, Kuper, Willemijn F E, van Alfen, Claudia, van Eck, Linda, de Man, Stella A, Willemsen, Marjolein H, van Gassen, Koen L I, Losekoot, Monique, van Hasselt, Peter M, Metabole ziekten onderzoek 1, Genetica Sectie Genoomdiagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Infection & Immunity, Kuper, Willemijn F E, van Alfen, Claudia, van Eck, Linda, de Man, Stella A, Willemsen, Marjolein H, van Gassen, Koen L I, Losekoot, Monique, and van Hasselt, Peter M

Published
2020

47. De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

Author

Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Nakashima, Mitsuko, Kato, Mitsuhiro, Matsukura, Masaru, Kira, Ryutaro, Ngu, Lock-Hock, Lichtenbelt, Klaske D, van Gassen, Koen L I, Mitsuhashi, Satomi, Saitsu, Hirotomo, Matsumoto, Naomichi, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Nakashima, Mitsuko, Kato, Mitsuhiro, Matsukura, Masaru, Kira, Ryutaro, Ngu, Lock-Hock, Lichtenbelt, Klaske D, van Gassen, Koen L I, Mitsuhashi, Satomi, Saitsu, Hirotomo, and Matsumoto, Naomichi

Published
2020

48. SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Author

Dubail, Johanne, Huber, Céline, Chantepie, Sandrine, Sonntag, Stephan, Tüysüz, Beyhan, Mihci, Ercan, Gordon, Christopher T., Steichen-Gersdorf, Elisabeth, Amiel, Jeanne, Nur, Banu, Stolte-Dijkstra, Irene, van Eerde, Albertien M., van Gassen, Koen L., Breugem, Corstiaan C., Stegmann, Alexander, Lekszas, Caroline, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Bruneel, Arnaud, Seta, Nathalie, Munnich, Arnold, Papy-Garcia, Dulce, De La Dure-Molla, Muriel, Cormier-Daire, Valérie, ARD - Amsterdam Reproduction and Development, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Croissance cellulaire, réparation et régénération tissulaires (CRRET), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), PolyGene AG [Rümlang, Switzerland], Department of Pediatric Genetics [Istanbul, Turkey] (Cerrahpasa Medicine School), Istanbul University, Paediatric Genetic Department [Antalya, Turkey], Akdeniz University, Innsbruck Medical University [Austria] (IMU), University Medical Center Groningen [Groningen] (UMCG), University Medical Center [Utrecht], Division of Paediatric Plastic Surgery [Utrecht, The Netherlands], Wilhelmina Children´s Hopsital [Utrecht, The Netherlands], Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Radboud University Medical Center [Nijmegen], Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU), Molecular and Clinical Sciences Institute - St George’s [London, UK] (Genetics Research Centre), University of London [London], Next Generation Genetic Clinic [Mashhad, Iran], Razavi Cancer Research Center [Mashhad, Iran] (Razavi Hospital), Imam Reza International University [Mashhad, Iran], CIC Hôpital Bichat, Institut National de la Santé et de la Recherche Médicale (INSERM)-UFR de Médecine-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), This work was supported by the European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement number 602300 (SYBIL) and the Fondation pour la Recherche Médicale (FRM) funding (DEQ20120323703)., European Project: 602300,EC:FP7:HEALTH,FP7-HEALTH-2013-INNOVATION-1,SYBIL(2013), Gestionnaire, Hal Sorbonne Université, Systems biology for the functional validation of genetic determinants of skeletal diseases - SYBIL - - EC:FP7:HEALTH2013-10-01 - 2018-09-30 - 602300 - VALID, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Julius-Maximilians-Universität Würzburg (JMU), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-UFR de Médecine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA Pat Cytologie (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Wilhelmina Children’s Hospital, and École Pratique des Hautes Études (EPHE)

Subjects
Electrophoresis, Chemistry(all), Amelogenesis Imperfecta, DISORDERS, PROTEINS, Science, GROWTH-PLATE, [SDV]Life Sciences [q-bio], Organic Anion Transporters, Sodium-Dependent, HEPARAN-SULFATE PROTEOGLYCANS, PHENOTYPES, Physics and Astronomy(all), Osteochondrodysplasias, Article, CALCIUM, Mice, Chlorocebus aethiops, Animals, Humans, Exome, Child, lcsh:Science, Glycoproteins, GLYCOSAMINOGLYCANS, Mice, Knockout, Bone Diseases, Developmental, Symporters, Biochemistry, Genetics and Molecular Biology(all), Body Weight, CHONDROITIN, Infant, GENE, [SDV] Life Sciences [q-bio], Disease Models, Animal, HEK293 Cells, Child, Preschool, COS Cells, Mutation, lcsh:Q, REGULATOR
Abstract

Skeletal dysplasia with multiple dislocations are severe disorders characterized by dislocations of large joints and short stature. The majority of them have been linked to pathogenic variants in genes encoding glycosyltransferases, sulfotransferases or epimerases required for glycosaminoglycan synthesis. Using exome sequencing, we identify homozygous mutations in SLC10A7 in six individuals with skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. SLC10A7 encodes a 10-transmembrane-domain transporter located at the plasma membrane. Functional studies in vitro demonstrate that SLC10A7 mutations reduce SLC10A7 protein expression. We generate a Slc10a7−/− mouse model, which displays shortened long bones, growth plate disorganization and tooth enamel anomalies, recapitulating the human phenotype. Furthermore, we identify decreased heparan sulfate levels in Slc10a7−/− mouse cartilage and patient fibroblasts. Finally, we find an abnormal N-glycoprotein electrophoretic profile in patient blood samples. Together, our findings support the involvement of SLC10A7 in glycosaminoglycan synthesis and specifically in skeletal development., The majority of skeletal dysplasia are caused by pathogenic variants in genes required for glycosaminoglycan (GAG) metabolism. Here, Dubail et al. identify genetic variants in the solute carrier family protein SLC10A7 in families with skeletal dysplasia and amelogenesis imperfecta that disrupt GAG synthesis.

Published
2018
Full Text
View/download PDF

49. A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Author

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, and Nelen, Marcel R.

Published
2013
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results