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All Publications

Displaying 8 results.
    • Journal article
    The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.
    Jia, Yaojuan Louw, Jacoba J Breckpot, Jeroen Callewaert, Bert Barréa, Catherine[UCL] Sznajer, Yves[UCL] Gewillig, Marc Souche, Erika Dehaspe, Luc Vermeesch, Joris Robert Lambrechts, Diether Devriendt, Koenraad Corveleyn, Anniek (2015) American Journal of Medical Genetics. Part A — Vol. 167, no. 8, p. 1822-1829 (2015)
    • Journal article
    The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y
    Vermeesch, Joris Robert Petit, Paul Kermouni, Abdenaïm Renauld, Jean-Christophe[UCL] Van Den Berghe, Herman Marynen, Peter (1997) Human Molecular Genetics — Vol. 6, no.1, p. 1-8 (1997)
    • Journal article
    Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation.
    Tšuiko, Olga Vanneste, Michiel Melotte, Cindy Ding, Jia Debrock, Sophie Masset, Heleen Peters, Maire Salumets, Andres De Leener, Anne[UCL] Pirard, Céline[UCL] Kluyskens, Candice[UCL] Hostens, Katleen van de Vijver, Arne Peeraer, Karen Denayer, Ellen Vermeesch, Joris Robert Dimitriadou, Eftychia (2021) NPJ genomic medicine — Vol. 6, no. 1, p. 81 [1-10] (2021)
    • Journal article
    Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
    Tsuiko, Olga El Ayeb, Yasmine Jatsenko, Tatjana Allemeersch, Joke Melotte, Cindy Ding, Jia Debrock, Sophie Peeraer, Karen Vanhie, Arne De Leener, Anne[UCL] Pirard, Céline[UCL] Kluyskens, Candice[UCL] Denayer, Ellen Legius, Eric Vermeesch, Joris Robert Brems, Hilde Dimitriadou, Eftychia (2023) Human reproduction — Vol. 38, no.3, p. 511-519 (2023)
    • Journal article
    Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
    Balikova, Irina Martens, Kevin Melotte, Cindy Amyere, Mustapha[UCL] Van Vooren, Steven Moreau, Yves Vetrie, David Fiegler, Heike Carter, Nigel P Liehr, Thomas Vikkula, Miikka[UCL] Matthijs, Gert Fryns, Jean-Pierre Casteels, Ingele Devriendt, Koen Vermeesch, Joris Robert (2008) American journal of human genetics — Vol. 82, no. 1, p. 181-7 (2008)
    • Journal article
    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[UCL] Désir, Julie Devriendt, Koenraad Dheedene, Annelies Duquenne, Armelle[UCL] 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[UCL] Van den Bogaert, Kris Vancoillie, Leen Vandeputte, Lotte Vantroys, Elise Vermeesch, Joris Robert Janssens, Katrien (2021) Obstetrics and gynecology — Vol. 137, no. 6, p. 1102-1108 (2021)
    • Journal article
    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[UCL] De Rademaeker, Marjan Désir, Julie Dheedene, Annelies Duquenne, Armelle[UCL] 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 (2021) Genetics in medicine — Vol. 23, no.6, p. 1137-1142 (2021)
    • Journal article
    Primary mediastinal large B-cell lymphoma is characterized by large-scale copy-neutral loss of heterozygosity.
    Tuveri, Stefania Debackere, Koen Marcelis, Lukas Dierckxsens, Nicolas Demeulemeester, Jonas Dimitriadou, Eftychia Dierickx, Daan Lefesvre, Pierre Deraedt, Karen Graux, Carlos[UCL] Michaux, Lucienne Cools, Jan Tousseyn, Thomas Vermeesch, Joris Robert Wlodarska, Iwona (2022) Genes, chromosomes & cancer — Vol. 61, no. 10, p. 603-615 (2022)