Male Infertility: Genetics, Mechanism, and Therapies

por Coutton, Charles, Fissore, Rafael A., Palermo, Gianpiero D., Stouffs, Katrien, Touré, Aminata
Publicado 2016

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

por Stouffs, Katrien, Gheldof, Alexander, Tournaye, Herman, Vandermaelen, Deborah, Bonduelle, Maryse, Lissens, Willy, Seneca, Sara
Publicado 2016

Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene

por de Filette, Jeroen, Hasaerts, Danielle, Seneca, Sara, Gheldof, Alexander, Stouffs, Katrien, Keymolen, Kathelijn, Velkeniers, Brigitte
Publicado 2016

Convert your favorite protein modeling program into a mutation predictor: “MODICT”

por Tanyalcin, Ibrahim, Stouffs, Katrien, Daneels, Dorien, Al Assaf, Carla, Lissens, Willy, Jansen, Anna, Gheldof, Alexander
Publicado 2016

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

por Jehasse, Kevin, Jacquerie, Kathleen, de Froidmont, Alice, Lemoine, Camille, Grisar, Thierry, Stouffs, Katrien, Lakaye, Bernard, Seutin, Vincent
Publicado 2021

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

por Stouffs, Katrien, Verloo, Patrick, Brock, Stefanie, Régal, Luc, Beysen, Diane, Ceulemans, Berten, Jansen, Anna C., Meuwissen, Marije E.C.
Publicado 2020

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

por Brock, Stefanie, Stouffs, Katrien, Scalais, Emmanuel, D’Hooghe, Marc, Keymolen, Kathelijn, Guerrini, Renzo, Dobyns, William B., Di Donato, Nataliya, Jansen, Anna C.
Publicado 2018

Clinical implementation of gene panel testing for lysosomal storage diseases

por Gheldof, Alexander, Seneca, Sara, Stouffs, Katrien, Lissens, Willy, Jansen, Anna, Laeremans, Hilde, Verloo, Patrick, Schoonjans, An‐Sofie, Meuwissen, Marije, Barca, Diana, Martens, Geert, De Meirleir, Linda
Publicado 2018

A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome

por Vancampenhout, Kim, Caljon, Ben, Spits, Claudia, Stouffs, Katrien, Jonckheere, An, De Meirleir, Linda, Lissens, Willy, Vanlander, Arnaud, Smet, Joél, De Paepe, Boel, Van Coster, Rudy, Seneca, Sara
Publicado 2014

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing

por Stutterd, Chloe A, Brock, Stefanie, Stouffs, Katrien, Fanjul-Fernandez, Miriam, Lockhart, Paul J, McGillivray, George, Mandelstam, Simone, Pope, Kate, Delatycki, Martin B, Jansen, Anna, Leventer, Richard J
Publicado 2020

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders

por Chen, Xiumin, Wilson, Katie A., Schaefer, Natascha, De Hayr, Lachlan, Windsor, Mark, Scalais, Emmanuel, van Rijckevorsel, Germaine, Stouffs, Katrien, Villmann, Carmen, O’Mara, Megan L., Lynch, Joseph W., Harvey, Robert J.
Publicado 2022

Defining the phenotypical spectrum associated with variants in TUBB2A

por Brock, Stefanie, Vanderhasselt, Tim, Vermaning, Sietske, Keymolen, Kathelijn, Régal, Luc, Romaniello, Romina, Wieczorek, Dagmar, Storm, Tim Matthias, Schaeferhoff, Karin, Hehr, Ute, Kuechler, Alma, Krägeloh-Mann, Ingeborg, Haack, Tobias B, Kasteleijn, Esmee, Schot, Rachel, Mancini, Grazia Maria Simonetta, Webster, Richard, Mohammad, Shekeeb, Leventer, Richard J, Mirzaa, Ghayda, Dobyns, William B, Bahi-Buisson, Nadia, Meuwissen, Marije, Jansen, Anna C, Stouffs, Katrien
Publicado 2021

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

por Maia, Nuno, Potelle, Sven, Yildirim, Hamide, Duvet, Sandrine, Akula, Shyam K., Schulz, Celine, Wiame, Elsa, Gheldof, Alexander, O’Kane, Katherine, Lai, Abbe, Sermon, Karen, Proisy, Maïa, Loget, Philippe, Attié-Bitach, Tania, Quelin, Chloé, Fortuna, Ana Maria, Soares, Ana Rita, de Brouwer, Arjan P.M., Van Schaftingen, Emile, Nassogne, Marie-Cécile, Walsh, Christopher A., Stouffs, Katrien, Jorge, Paula, Jansen, Anna C., Foulquier, François
Publicado 2022

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

por Banka, Siddharth, Bennington, Abigail, Baker, Martin J, Rijckmans, Ellen, Clemente, Giuliana D, Ansor, Nurhuda Mohamad, Sito, Hilary, Prasad, Pritha, Anyane-Yeboa, Kwame, Badalato, Lauren, Dimitrov, Boyan, Fitzpatrick, David, Hurst, Anna C E, Jansen, Anna C, Kelly, Melissa A, Krantz, Ian, Rieubland, Claudine, Ross, Meredith, Rudy, Natasha L, Sanz, Javier, Stouffs, Katrien, Xu, Zhuo Luan, Malliri, Angeliki, Kazanietz, Marcelo G, Millard, Tom H
Publicado 2022

International consensus recommendations on the diagnostic work-up for malformations of cortical development

por Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., Di Donato, Nataliya
Publicado 2020

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

por Alston, Charlotte L., Compton, Alison G., Formosa, Luke E., Strecker, Valentina, Oláhová, Monika, Haack, Tobias B., Smet, Joél, Stouffs, Katrien, Diakumis, Peter, Ciara, Elżbieta, Cassiman, David, Romain, Nadine, Yarham, John W., He, Langping, De Paepe, Boel, Vanlander, Arnaud V., Seneca, Sara, Feichtinger, René G., Płoski, Rafal, Rokicki, Dariusz, Pronicka, Ewa, Haller, Ronald G., Van Hove, Johan L.K., Bahlo, Melanie, Mayr, Johannes A., Van Coster, Rudy, Prokisch, Holger, Wittig, Ilka, Ryan, Michael T., Thorburn, David R., Taylor, Robert W.
Publicado 2016

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

por Vandervore, Laura V, Schot, Rachel, Kasteleijn, Esmee, Oegema, Renske, Stouffs, Katrien, Gheldof, Alexander, Grochowska, Martyna M, van der Sterre, Marianne L T, van Unen, Leontine M A, Wilke, Martina, Elfferich, Peter, van der Spek, Peter J, Heijsman, Daphne, Grandone, Anna, Demmers, Jeroen A A, Dekkers, Dick H W, Slotman, Johan A, Kremers, Gert-Jan, Schaaf, Gerben J, Masius, Roy G, van Essen, Anton J, Rump, Patrick, van Haeringen, Arie, Peeters, Els, Altunoglu, Umut, Kalayci, Tugba, Poot, Raymond A, Dobyns, William B, Bahi-Buisson, Nadia, Verheijen, Frans W, Jansen, Anna C, Mancini, Grazia M S
Publicado 2019

The landscape of epilepsy-related GATOR1 variants

por Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., Baulac, Stéphanie
Publicado 2018

Correction: The landscape of epilepsy-related GATOR1 variants

por Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik H., Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, NordliJr, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., Baulac, Stéphanie
Publicado 2018

Correction to: The landscape of epilepsy-related GATOR1 variants

por Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, Martin, Anne de Saint, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor, Braun, Kees, Jong, Daniëlle de, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, NordliJr, Douglas R., Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, Bellescize, Julitta de, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., Baulac, Stéphanie
Publicado 2018