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Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
Author / Creator: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
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-06, Vol.23 (6), p.1137-1142
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Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
Author / Creator:De Clercq, Griet ; Vantomme, Lies ; Dewaele, Barbara ; Callewaert, Bert ; Vanakker, Olivier ; Janssens, Sandra ; Loeys, Bart ; Strazisar, Mojca ; De Coster, Wouter ; Vermeesch, Joris Robert ; Dheedene, Annelies ; Menten, Björn
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-11, Vol.14 (1), p.29142-12, Article 29142
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Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Author / Creator:Symoens, Sofie ; Malfait, Fransiska ; D’hondt, Sanne ; Callewaert, Bert ; Dheedene, Annelies ; Steyaert, Wouter ; Bächinger, Hans Peter ; De Paepe, Anne ; Kayserili, Hulya ; Coucke, Paul J
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-09, Vol.8 (1), p.154-154, Article 154
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ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation
Author / Creator:Sante, Tom ; Vergult, Sarah ; Volders, Pieter-Jan ; Kloosterman, Wigard P. ; Trooskens, Geert ; De Preter, Katleen ; Dheedene, Annelies ; Speleman, Frank ; De Meyer, Tim ; Menten, Björn
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-12, Vol.9 (12), p.e113800-e113800
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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Author / Creator:Whalen, Sandra ; Shaw, Marie ; Mignot, Cyril ; Héron, Delphine ; Bastaraud, Sandra Chantot ; Walti, Cecile Cieuta ; Liebelt, Jan ; Elmslie, Frances ; Yap, Patrick ; Hurst, Jane ; Forsythe, Elisabeth ; Kirmse, Brian ; Ozmore, Jillian ; Spinelli, Alessandro Mauro ; Calabrese, Olga ; de Villemeur, Thierry Billette ; Tabet, Anne Claude ; Levy, Jonathan ; Guet, Agnes ; Kossorotoff, Manoëlle ; Kamien, Benjamin ; Morton, Jenny ; McCabe, Anne ; Brischoux-Boucher, Elise ; Raas-Rothschild, Annick ; Pini, Antonella ; Carroll, Renée ; Hartley, Jessica N. ; Boycott, Kym ; Brudno, Michael ; Bernier, Francois ; van Karnebeek, Clara ; Dyment, David ; Kernohan, Kristin ; Innes, Micheil ; Lamont, Ryan ; Parboosingh, Jillian ; Marshall, Deborah ; Marshall, Christian ; Mendoza, Roberto ; Dowling, James ; Hayeems, Robin ; Knoppers, Bartha ; Lehman, Anna ; Mostafavi, Sara ; Frosk, Patrick ; Slavotinek, Anne ; Truxal, Kristen ; Jennifer, Carroll ; Dheedene, Annelies ; Cui, Hong ; Kumar, Vishal ; Thomson, Glen ; Riccardi, Florence ; Gecz, Jozef ; Villard, Laurent
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1405-1417
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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
Author / Creator:Li, Dong ; March, Michael E. ; Fortugno, Paola ; Cox, Liza L. ; Matsuoka, Leticia S. ; Monetta, Rosanna ; Seiler, Christoph ; Pyle, Louise C. ; Bedoukian, Emma C. ; Sánchez-Soler, María José ; Caluseriu, Oana ; Grand, Katheryn ; Tam, Allison ; Aycinena, Alicia R. P. ; Camerota, Letizia ; Guo, Yiran ; Sleiman, Patrick ; Callewaert, Bert ; Kumps, Candy ; Dheedene, Annelies ; Buckley, Michael ; Kirk, Edwin P. ; Turner, Anne ; Kamien, Benjamin ; Patel, Chirag ; Wilson, Meredith ; Roscioli, Tony ; Christodoulou, John ; Cox, Timothy C. ; Zackai, Elaine H. ; Brancati, Francesco ; Hakonarson, Hakon ; Bhoj, Elizabeth J.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-07, Vol.140 (7), p.1061-1076
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Performance of a TthPrimPol-based whole genome amplification kit for copy number alteration detection using massively parallel sequencing
Author / Creator:Deleye, Lieselot ; De Coninck, Dieter ; Dheedene, Annelies ; De Sutter, Petra ; Menten, Björn ; Deforce, Dieter ; Van Nieuwerburgh, Filip
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-08, Vol.6 (1), p.31825-31825, Article 31825
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Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
Author / Creator:Vergult, Sarah ; Dheedene, Annelies ; Meurs, Alfred ; Faes, Fran ; Isidor, Bertrand ; Janssens, Sandra ; Gautier, Agnès ; Le Caignec, Cédric ; Menten, Björn
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-05, Vol.23 (5), p.628-632
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Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue
Author / Creator:Van der Linden, Malaïka ; Raman, Lennart ; Vander Trappen, Ansel ; Dheedene, Annelies ; De Smet, Matthias ; Sante, Tom ; Creytens, David ; Lievens, Yolande ; Menten, Björn ; Van Dorpe, Jo ; Van Roy, Nadine
Publisher:United States: College of American Pathologists
Journal title:Archives of pathology & laboratory medicine (1976), 2020-08, Vol.144 (8), p.974-981
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FOXP1-related intellectual disability syndrome: a recognisable entity
Author / Creator:Meerschaut, Ilse ; Rochefort, Daniel ; Revençu, Nicole ; Pètre, Justine ; Corsello, Christina ; Rouleau, Guy A ; Hamdan, Fadi F ; Michaud, Jacques L ; Morton, Jenny ; Radley, Jessica ; Ragge, Nicola ; García-Miñaúr, Sixto ; Lapunzina, Pablo ; Bralo, Maria Palomares ; Mori, Maria Ángeles ; Moortgat, Stéphanie ; Benoit, Valérie ; Mary, Sandrine ; Bockaert, Nele ; Oostra, Ann ; Vanakker, Olivier ; Velinov, Milen ; de Ravel, Thomy JL ; Mekahli, Djalila ; Sebat, Jonathan ; Vaux, Keith K ; DiDonato, Nataliya ; Hanson-Kahn, Andrea K ; Hudgins, Louanne ; Dallapiccola, Bruno ; Novelli, Antonio ; Tarani, Luigi ; Andrieux, Joris ; Parker, Michael J ; Neas, Katherine ; Ceulemans, Berten ; Schoonjans, An-Sofie ; Prchalova, Darina ; Havlovicova, Marketa ; Hancarova, Miroslava ; Budisteanu, Magdalena ; Dheedene, Annelies ; Menten, Björn ; Dion, Patrick A ; Lederer, Damien ; Callewaert, Bert
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2017-09, Vol.54 (9), p.613-623
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Author / Creator:Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle M. ; Schramm, Catherine ; Zamora, Francisca Millan ; Shanmugham, Anita ; Liu, Shuxi ; Zou, Fanggeng ; Bilan, Frédéric ; Le Guyader, Gwenaël ; Bruel, Ange-Line ; Denommé-Pichon, Anne-Sophie ; Faivre, Laurence ; Tran Mau-Them, Frédéric ; Tessarech, Marine ; Colin, Estelle ; El Chehadeh, Salima ; Gérard, Bénédicte ; Schaefer, Elise ; Cogne, Benjamin ; Isidor, Bertrand ; Nizon, Mathilde ; Doummar, Diane ; Valence, Stéphanie ; Héron, Delphine ; Keren, Boris ; Mignot, Cyril ; Coutton, Charles ; Devillard, Françoise ; Alaix, Anne-Sophie ; Amiel, Jeanne ; Colleaux, Laurence ; Munnich, Arnold ; Poirier, Karine ; Rio, Marlène ; Rondeau, Sophie ; Barcia, Giulia ; Callewaert, Bert ; Dheedene, Annelies ; Kumps, Candy ; Vergult, Sarah ; Menten, Björn ; Chung, Wendy K. ; Hernan, Rebecca ; Larson, Austin ; Nori, Kelly ; Stewart, Sarah ; Wheless, James ; Kresge, Christina ; Pletcher, Beth A. ; Caumes, Roseline ; Smol, Thomas ; Sigaudy, Sabine ; Coubes, Christine ; Helm, Margaret ; Smith, Rosemarie ; Morrison, Jennifer ; Wheeler, Patricia G. ; Kritzer, Amy ; Jouret, Guillaume ; Afenjar, Alexandra ; Deleuze, Jean-François ; Olaso, Robert ; Boland, Anne ; Poitou, Christine ; Frebourg, Thierry ; Houdayer, Claude ; Saugier-Veber, Pascale ; Nicolas, Gaël ; Lecoquierre, François
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-01, Vol.141 (1), p.65-80
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Expanding the Phenotype of B3GALNT2-Related Disorders
Author / Creator:D’haenens, Erika ; Vergult, Sarah ; Menten, Björn ; Dheedene, Annelies ; Kooy, R. Frank ; Callewaert, Bert
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-04, Vol.13 (4), p.694
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Redefining the MED13L syndrome
Author / Creator:Adegbola, Abidemi ; Musante, Luciana ; Callewaert, Bert ; Maciel, Patricia ; Hu, Hao ; Isidor, Bertrand ; Picker-Minh, Sylvie ; Le Caignec, Cedric ; Delle Chiaie, Barbara ; Vanakker, Olivier ; Menten, Björn ; Dheedene, Annelies ; Bockaert, Nele ; Roelens, Filip ; Decaestecker, Karin ; Silva, João ; Soares, Gabriela ; Lopes, Fátima ; Najmabadi, Hossein ; Kahrizi, Kimia ; Cox, Gerald F ; Angus, Steven P ; Staropoli, John F ; Fischer, Ute ; Suckow, Vanessa ; Bartsch, Oliver ; Chess, Andrew ; Ropers, Hans-Hilger ; Wienker, Thomas F ; Hübner, Christoph ; Kaindl, Angela M ; Kalscheuer, Vera M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1308-1317
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Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method
Author / Creator:Deleye, Lieselot ; Coninck, Dieter De ; Christodoulou, Christodoulos ; Sante, Tom ; Dheedene, Annelies ; Heindryckx, Björn ; Abbeel, Etienne Van den ; Sutter, Petra De ; Menten, Björn ; Deforce, Dieter ; Nieuwerburgh, Filip Van
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2015-06, Vol.5 (1), p.11711-11711, Article 11711
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Author / Creator:Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle ; Schramm, Catherine ; Zamora, Francisca Millan ; Shanmugham, Anita ; Liu, Shuxi ; Zou, Fanggeng ; Bilan, Frédéric ; Le Guyader, Gwenaël ; Bruel, Ange-Line ; Denommé-Pichon, Anne-Sophie ; Faivre, Laurence ; Tran Mau-Them, Frédéric ; Tessarech, Marine ; Colin, Estelle ; El Chehadeh, Salima ; Gérard, Bénédicte ; Schaefer, Elise ; Cogne, Benjamin ; Isidor, Bertrand ; Nizon, Mathilde ; Doummar, Diane ; Valence, Stéphanie ; Héron, Delphine ; Keren, Boris ; Mignot, Cyril ; Coutton, Charles ; Devillard, Françoise ; Alaix, Anne-Sophie ; Amiel, Jeanne ; Colleaux, Laurence ; Munnich, Arnold ; Poirier, Karine ; Rio, Marlène ; Rondeau, Sophie ; Barcia, Giulia ; Callewaert, Bert ; Dheedene, Annelies ; Kumps, Candy ; Vergult, Sarah ; Menten, Björn ; Chung, Wendy ; Hernan, Rebecca ; Larson, Austin ; Nori, Kelly ; Stewart, Sarah ; Wheless, James ; Kresge, Christina ; Pletcher, Beth ; Caumes, Roseline ; Smol, Thomas ; Sigaudy, Sabine ; Coubes, Christine ; Helm, Margaret ; Smith, Rosemarie ; Morrison, Jennifer ; Wheeler, Patricia ; Kritzer, Amy ; Jouret, Guillaume ; Afenjar, Alexandra ; Deleuze, Jean-François ; Olaso, Robert ; Boland, Anne ; Poitou, Christine ; Frebourg, Thierry ; Houdayer, Claude ; Saugier-Veber, Pascale ; Nicolas, Gaël ; Lecoquierre, François
Publisher:Springer Verlag
Journal title:Human genetics, 2022-01, Vol.141 (1), p.65-80
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A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome
Author / Creator:Meerschaut, Ilse ; Vergult, Sarah ; Dheedene, Annelies ; Menten, Björn ; De Groote, Katya ; De Wilde, Hans ; Muiño Mosquera, Laura ; Panzer, Joseph ; Vandekerckhove, Kristof ; Coucke, Paul J. ; De Wolf, Daniël ; Callewaert, Bert
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-07, Vol.12 (7), p.1048
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Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance
Author / Creator:De Witte, Lisa ; Baetens, Machteld ; Tilleman, Kelly ; Vanden Meerschaut, Frauke ; Janssens, Sandra ; Van Tongerloo, Ariane ; Szymczak, Virginie ; Stoop, Dominic ; Dheedene, Annelies ; Symoens, Sofie ; Menten, Björn
Publisher:England: Oxford University Press
Journal title:Human reproduction open, 2024, Vol.2024 (4), p.hoae056
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The Heterozygous Lemd3+/GT Mouse Is Not a Murine Model for Osteopoikilosis in Humans
Author / Creator:Dheedene, Annelies ; Deleye, Steven ; Hellemans, Jan ; Staelens, Steven ; Vandenberghe, Stefaan ; Mortier, Geert
Publisher:New York: Springer-Verlag
Journal title:Calcified tissue international, 2009-12, Vol.85 (6), p.546-551
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The Heterozygous Lemd3 super( +/GT ) Mouse Is Not a Murine Model for Osteopoikilosis in Humans
Author / Creator:Dheedene, Annelies ; Deleye, Steven ; Hellemans, Jan ; Staelens, Steven ; Vandenberghe, Stefaan ; Mortier, Geert
Journal title:Calcified tissue international, 2009-12, Vol.85 (6), p.546-551
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ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation: e113800
Author / Creator:Sante, Tom ; Vergult, Sarah ; Volders, Pieter-Jan ; Kloosterman, Wigard P ; Trooskens, Geert ; Preter, Katleen De ; Dheedene, Annelies ; Speleman, Frank ; Meyer, Tim De ; Menten, Bjorn
Journal title:PloS one, 2014-12, Vol.9 (12)
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Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

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Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

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Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

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ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation

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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

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Performance of a TthPrimPol-based whole genome amplification kit for copy number alteration detection using massively parallel sequencing

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Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

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Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue

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FOXP1-related intellectual disability syndrome: a recognisable entity

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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

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Expanding the Phenotype of B3GALNT2-Related Disorders

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Redefining the MED13L syndrome

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Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method

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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

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A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome

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Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance

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The Heterozygous Lemd3+/GT Mouse Is Not a Murine Model for Osteopoikilosis in Humans

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The Heterozygous Lemd3 super( +/GT ) Mouse Is Not a Murine Model for Osteopoikilosis in Humans

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ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation: e113800

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