Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
Van Den Bogaert, Kris, Lannoo, Lore, Brison, Nathalie, Gatinois, Vincent, Baetens, Machteld, Blaumeiser, Bettina, Boemer, François, Bourlard, Laura, Bours, Vincent, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Dheedene, Annelies, Duquenne, Armelle, Fieremans, Nathalie, Fieuw, Annelies, Gatot, Jean-Stéphane, Grisart, Bernard, Janssens, Katrien, Janssens, Sandra, Lederer, Damien, Marichal, Axel, Menten, Björn, Meunier, Colombine, Palmeira, Leonor, Pichon, Bruno, Sammels, Eva, Smits, Guillaume, Sznajer, Yves, Vantroys, Elise, Devriendt, Koenraad, Vermeesch, Joris Robert
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
Schepers, Dorien, Tortora, Giada, Morisaki, Hiroko, MacCarrick, Gretchen, Lindsay, Mark, Liang, David, Mehta, Sarju G., Hague, Jennifer, Verhagen, Judith, de Laar, Ingrid, Wessels, Marja, Detisch, Yvonne, Haelst, Mieke, Baas, Annette, Lichtenbelt, Klaske, Braun, Kees, der Linde, Denise, Roos‐Hesselink, Jolien, McGillivray, George, Meester, Josephina, Maystadt, Isabelle, Coucke, Paul, El‐Khoury, Elie, Parkash, Sandhya, Diness, Birgitte, Risom, Lotte, Scurr, Ingrid, Hilhorst‐Hofstee, Yvonne, Morisaki, Takayuki, Richer, Julie, Désir, Julie, Kempers, Marlies, Rideout, Andrea L., Horne, Gabrielle, Bennett, Chris, Rahikkala, Elisa, Vandeweyer, Geert, Alaerts, Maaike, Verstraeten, Aline, Dietz, Hal, Laer, Lut, Loeys, Bart
Published in Human mutation (01.05.2018)
Published in Human mutation (01.05.2018)
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tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans
Igoillo-Esteve, Mariana, Genin, Anne, Lambert, Nelle, Désir, Julie, Pirson, Isabelle, Abdulkarim, Baroj, Simonis, Nicolas, Drielsma, Anais, Marselli, Lorella, Marchetti, Piero, Vanderhaeghen, Pierre, Eizirik, Décio L, Wuyts, Wim, Julier, Cécile, Chakera, Ali J, Ellard, Sian, Hattersley, Andrew T, Abramowicz, Marc, Cnop, Miriam
Published in PLoS genetics (01.10.2013)
Published in PLoS genetics (01.10.2013)
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WDR62 is associated with the spindle pole and is mutated in human microcephaly
Abramowicz, Marc, Woods, C Geoffrey, Nicholas, Adeline K, Khurshid, Maryam, Désir, Julie, Carvalho, Ofélia P, Cox, James J, Thornton, Gemma, Kausar, Rizwana, Ansar, Muhammad, Ahmad, Wasim, Verloes, Alain, Passemard, Sandrine, Misson, Jean-Paul, Lindsay, Susan, Gergely, Fanni, Dobyns, William B, Roberts, Emma
Published in Nature genetics (01.11.2010)
Published in Nature genetics (01.11.2010)
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Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
Drielsma, Anais, Jalas, Chaim, Simonis, Nicolas, Désir, Julie, Simanovsky, Natalia, Pirson, Isabelle, Elpeleg, Orly, Abramowicz, Marc, Edvardson, Simon
Published in Journal of medical genetics (01.11.2012)
Published in Journal of medical genetics (01.11.2012)
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Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis
Ghesh, Leïla, Désir, Julie, Haye, Damien, Le Tanno, Pauline, Devillard, Françoise, Cogné, Benjamin, Marangoni, Martina, Tecco, Laura, Heron, Delphine, Le Vaillant, Claudine, Joubert, Madeleine, Beneteau, Claire
Published in Clinical genetics (01.05.2023)
Published in Clinical genetics (01.05.2023)
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Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
Parijs, Ilse, Brison, Nathalie, Vancoillie, Leen, Baetens, Machteld, Blaumeiser, Bettina, Boulanger, Sébastien, Désir, Julie, Dimitrov, Boyan, Fieremans, Nathalie, Janssens, Katrien, Janssens, Sandra, Marichal, Axel, Menten, Björn, Meunier, Colombine, Van Berkel, Kim, Van Den Bogaert, Ann, Devriendt, Koenraad, Van Den Bogaert, Kris, Vermeesch, Joris Robert
Published in European journal of human genetics : EJHG (01.01.2024)
Published in European journal of human genetics : EJHG (01.01.2024)
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GNA11‐mutated Sturge–Weber syndrome has distinct neurological and dermatological features
Dompmartin, Anne, Vleuten, Carine J. M., Dekeuleneer, Valérie, Duprez, Thierry, Revencu, Nicole, Désir, Julie, Loo, D. Maroeska W. M., Flucke, Uta, Eijkelenboom, Astrid, Schultze Kool, Leo, Vikkula, Miikka, Boon, Laurence
Published in European journal of neurology (01.10.2022)
Published in European journal of neurology (01.10.2022)
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Rfx6 directs islet formation and insulin production in mice and humans
Polychronakos, Constantin, German, Michael S, Smith, Stuart B, Qu, Hui-Qi, Taleb, Nadine, Kishimoto, Nina Y, Scheel, David W, Lu, Yang, Patch, Ann-Marie, Grabs, Rosemary, Wang, Juehu, Lynn, Francis C, Miyatsuka, Takeshi, Mitchell, John, Seerke, Rina, Désir, Julie, Eijnden, Serge Vanden, Abramowicz, Marc, Kacet, Nadine, Weill, Jacques, Renard, Marie-Ève, Gentile, Mattia, Hansen, Inger, Dewar, Ken, Hattersley, Andrew T, Wang, Rennian, Wilson, Maria E, Johnson, Jeffrey D
Published in Nature (London) (11.02.2010)
Published in Nature (London) (11.02.2010)
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RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
Jeanson, Ludovic, Copin, Bruno, Papon, Jean-François, Dastot-Le Moal, Florence, Duquesnoy, Philippe, Montantin, Guy, Cadranel, Jacques, Corvol, Harriet, Coste, André, Désir, Julie, Souayah, Anissa, Kott, Esther, Collot, Nathalie, Tissier, Sylvie, Louis, Bruno, Tamalet, Aline, de Blic, Jacques, Clement, Annick, Escudier, Estelle, Amselem, Serge, Legendre, Marie
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants
Bauwens, Miriam, De Man, Vincent, Audo, Isabelle, Balikova, Irina, Zein, Wadih M., Smirnov, Vasily, Held, Sebastian, Vermeer, Sascha, Loos, Elke, Jacob, Julie, Casteels, Ingele, Désir, Julie, Depasse, Fanny, Van de Sompele, Stijn, Van Heetvelde, Mattias, De Bruyne, Marieke, Andrieu, Camille, Condroyer, Christel, Antonio, Aline, Hufnagel, Robert, Carvalho, Ana Luísa, Marques, João Pedro, Zeitz, Christina, De Baere, Elfride, Damme, Markus
Published in Clinical genetics (28.08.2024)
Published in Clinical genetics (28.08.2024)
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Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy
Moortgat, Stéphanie, Désir, Julie, Benoit, Valérie, Boulanger, Sébastien, Pendeville, Hélène, Nassogne, Marie-Cécile, Lederer, Damien, Maystadt, Isabelle
Published in American journal of medical genetics. Part A (01.11.2016)
Published in American journal of medical genetics. Part A (01.11.2016)
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LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
DESIR, Julie, SZNAJER, Yves, DEPASSE, Fanny, ROULEZ, Françoise, SCHROOYEN, Marc, MEIRE, Françoise, ABRAMOWICZ, Marc
Published in European journal of human genetics : EJHG (01.07.2010)
Published in European journal of human genetics : EJHG (01.07.2010)
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Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations
van Riel, Margot, Brison, Nathalie, Baetens, Machteld, Blaumeiser, Bettina, Boemer, François, Bourlard, Laura, Bulk, Saskia, De Leener, Anne, Désir, Julie, Devriendt, Koenraad, Dheedene, Annelies, Duquenne, Armelle, Fieremans, Nathalie, Fieuw, Annelies, Gatot, Jean-Stéphane, Grisart, Bernard, Janssens, Sandra, Khudashvili, Naïri, Lannoo, Lore, Marichal, Axel, Meunier, Colombine, Palmeira, Leonor, Parijs, Ilse, Pichon, Bruno, Roets, Ellen, Sammels, Eva, Smits, Guillaume, Suenaert, Marion, Sznajer, Yves, Van den Bogaert, Kris, Vancoillie, Leen, Vandeputte, Lotte, Vantroys, Elise, Vermeesch, Joris Robert, Janssens, Katrien
Published in Obstetrics and gynecology (New York. 1953) (01.06.2021)
Published in Obstetrics and gynecology (New York. 1953) (01.06.2021)
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Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
Marangoni, Martina, Smits, Guillaume, Ceysens, Gilles, Costa, Elena, Coulon, Robert, Daelemans, Caroline, De Coninck, Caroline, Derisbourg, Sara, Gajewska, Kalina, Garofalo, Giulia, Gounongbe, Caroline, Guizani, Meriem, Holoye, Anne, Houba, Catherine, Makhoul, Jean, Norgaard, Christian, Regnard, Cecile, Romée, Stephanie, Soto, Jamil, Stagel-Trabbia, Aurore, Van Rysselberge, Michel, Vercoutere, An, Zaytouni, Siham, Bouri, Sarah, D'Haene, Nicky, D'Onle, Dominique, Dugauquier, Christian, Racu, Marie-Lucie, Rocq, Laureen, Segers, Valérie, Verocq, Camille, Avni, Ephraim Freddy, Cassart, Marie, Massez, Anne, Blaumeiser, Bettina, Brischoux-Boucher, Elise, Bulk, Saskia, De Ravel, Thomy, Debray, Guillaume, Dimitrov, Boyan, Janssens, Sandra, Keymolen, Kathelijn, Laterre, Marie, van Berkel, Kim, Van Maldergem, Lionel, Vandernoot, Isabelle, Vilain, Catheline, Donner, Catherine, Tecco, Laura, Thomas, Dominique, Désir, Julie, Abramowicz, Marc, Migeotte, Isabelle
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation
De Graer, Celine, Marangoni, Martina, Romnée, Stephanie, Delaunoy, Mélanie, Zaytouni, Siham, D'Haene, Nicky, Désir, Julie, Donner, Catherine
Published in European journal of medical genetics (01.04.2020)
Published in European journal of medical genetics (01.04.2020)
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