Beach-ridge formation as a possible indicator for an open Limfjord – North Sea connection von Freiesleben, Trine, Rokkedahl Berntsen, Lasse, Blæsbjerg, Maria, Høffer, Emilia, Rasmussen, Christian, Krog Larsen, Nicolaj

Volltext

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants von Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariëtte J. V., Van der Ven, Amelie, Thiele, Holger, Altmüller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K., Lessel, Davor

Volltext

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders von Sollis, Elliot, Deriziotis, Pelagia, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi, Hoffer, Mariëtte J.V., Ruivenkamp, Claudia A.L., Alders, Mariëlle, Okamoto, Nobuhiko, Bijlsma, Emilia K., Plomp, Astrid S., Fisher, Simon E.

Volltext

Prenatal exome sequencing: A useful tool for the fetal neurologist von Koning, Maayke A., Hoffer, Mariëtte J. V., Nibbeling, Esther A. R., Bijlsma, Emilia K., Toirkens, Menno J. P., Adama‐Scheltema, Phebe N., Verweij, E. Joanne, Veenhof, Marieke B., Santen, Gijs W. E., Peeters‐Scholte, Cacha M. P. C. D.

Volltext

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging von 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, Tartaglia, Marco

Volltext

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders von Guo, Hui, Bettella, Elisa, Marcogliese, Paul C., Zhao, Rongjuan, Andrews, Jonathan C., Nowakowski, Tomasz J., Gillentine, Madelyn A., Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein H., van Bon, Bregje W., Rinne, Tuula, Stevens, Servi J. C., Kleefstra, Tjitske, Brunner, Han G., Yntema, Helger G., Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles E., Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta U., Erwin, Deanna J., Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Herman, Kristin, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy B., Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather C., Muir, Alison M., Scheffer, Ingrid E., Regan, Brigid M., Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan M., Waisfisz, Quinten, Bijlsma, Emilia K., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Sartori, Stefano, Xia, Fan, Rosenfeld, Jill A., Bernier, Raphael A., Wangler, Michael F., Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander P. A., Bellen, Hugo J., Murgia, Alessandra, Eichler, Evan E.

Volltext

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy von Lemke, Johannes R, Geider, Kirsten, Helbig, Katherine L, Heyne, Henrike O, Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S, Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A, Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L, Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J, Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J, Doherty, Emily S, Bijlsma, Emilia K, Ruivenkamp, Claudia A, Hoffer, Mariette J.V, Goldstein, Amy, Rajan, Deepa S, Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C, Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F, Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L, Laube, Bodo, Syrbe, Steffen

Volltext

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content von Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna

Volltext

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency von 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

Volltext

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration von Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Pochiero, Francesca, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Lopez, Javier F., Maleady-Crowe, Fiona, Minneci, Federico, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Rahim, Tahrima, Rendon, Augusto, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Ratto, Gian Michele, Guerrini, Renzo

Volltext

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism von Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

Volltext

Putting genome-wide sequencing in neonates into perspective von van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q. C. M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Donker Kaat, Laura, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D. J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J. V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A. R., Peeters-Scholte, Cacha M. P. C. D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A. L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N. G. B., van der Tuin, Karin, Visser, Remco, van der Werf –’t Lam, Anne-Sophie, Williams, Monique, Witlox, Ruben, Santen, Gijs W. E.

Volltext

Correction: Putting genome-wide sequencing in neonates into perspective von van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q.C.M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Kaat, Laura Donker, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D.J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J.V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A.R., Peeters-Scholte, Cacha M.P.C.D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A.L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N.G.B., van der Tuin, Karin, Visser, Remco, van der Werf –’t Lam, Anne-Sophie, Williams, Monique, Witlox, Ruben, Santen, Gijs W.E.

Volltext

The Flash Environmental Assessment Tool: Worldwide first aid for chemical accidents response, pro action, prevention and preparedness von Posthuma, Leo, Wahlstrom, Emilia, Nijenhuis, René, Dijkens, Chris, de Zwart, Dick, van de Meent, Dik, Hollander, Anne, Brand, Ellen, den Hollander, Henri A., van Middelaar, Johan, van Dijk, Sander, Hall, E.F., Hoffer, Sally

Volltext

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content von Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J.V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie Jose H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O'Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna

Volltext

Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism von Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta, Kaur, Anupriya, Kaur, Parmeet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia, Capuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra, Wilke, Martina, Thompson, Michelle, Bebin, Martina, Bijlsma, Emilia, Hoffer, Mariette, Peters-Scholte, Cacha, Slavotinek, Anne, Weiss, William, Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Yachelevich, Naomi, Wilaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Kloechner, Chiara, Kamphausen, Susanne, Jamra, Rami, Arelin, Maria, Innes, Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damien, de Burca, Anna, Kini, Usha, Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher

Volltext

eP148 - Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism von Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta, Kaur, Anupriya, Kaur, Parmeet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia, Capuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra, Wilke, Martina, Thompson, Michelle, Bebin, Martina, Bijlsma, Emilia, Hoffer, Mariette, Peters-Scholte, Cacha, Slavotinek, Anne, Weiss, William, Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Yachelevich, Naomi, Wilaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Kloechner, Chiara, Kamphausen, Susanne, Jamra, Rami, Arelin, Maria, Innes, Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damien, de Burca, Anna, Kini, Usha, Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher

Volltext

A 400 kb duplication, 2.4 Mb triplication and 130 kb duplication of 9q34.3 in a patient with severe mental retardation von Gijsbers, Antoinet C.J, Bijlsma, Emilia K, Weiss, Marjan M, Bakker, Egbert, Breuning, Martijn H, Hoffer, Mariëtte J.V, Ruivenkamp, Claudia A.L

Volltext

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy von Lemke, Johannes R, Geider, Kirsten, Helbig, Katherine L, Heyne, Henrike O, Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S, Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A, Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L, Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J, Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J, Doherty, Emily S, Bijlsma, Emilia K, Ruivenkamp, Claudia A, Hoffer, Mariette J.V, Goldstein, Amy, Rajan, Deepa S, Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C, Sá, Joaquim, Mendoncą, Carla, de Kovel, Carolien G F, Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, Meirleir, Linda De, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L, Laube, Bodo, Syrbe, Steffen

Volltext

The Flash Environmental Assessment Tool: Worldwide first aid for chemical accidents response, pro action, prevention and preparedness: Recent Developments in assessing and managing... von POSTHUMA, Leo, WAHLSTROM, Emilia, VAN DIJK, Sander, HALL, E. F, HOFFER, Sally, NIJENHUIS, René, DIJKENS, Chris, DE ZWART, Dick, VAN DE MEENT, Dik, HOLLANDER, Anne, BRAND, Ellen, DEN HOLLANDER, Henri A, VAN MIDDELAAR, Johan

Volltext