Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients von Van Roy, Nadine, Van Der Linden, Malaïka, Menten, Björn, Dheedene, Annelies, Vandeputte, Charlotte, Van Dorpe, Jo, Laureys, Geneviève, Renard, Marleen, Sante, Tom, Lammens, Tim, De Wilde, Bram, Speleman, Frank, De Preter, Katleen

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Outcome of publicly funded nationwide first-tier noninvasive prenatal screening von 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

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Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India von Shenoy, Rathika D., Shetty, Vikram, Dheedene, Annelies, Menten, Björn, Pandyanda Nanjappa, Dechamma, Chakraborty, Gunimala, Sips, Patrick, de Paepe, Anne, Callewaert, Bert, Chakraborty, Anirban

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

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Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts von Deleye, Lieselot, M.Sc, Dheedene, Annelies, M.Sc, De Coninck, Dieter, Ph.D, Sante, Tom, M.Sc, Christodoulou, Christodoulos, M.Sc, Heindryckx, Björn, Ph.D, Van den Abbeel, Etienne, Ph.D, De Sutter, Petra, Ph.D, Deforce, Dieter, Ph.D, Menten, Björn, Ph.D, Van Nieuwerburgh, Filip, Ph.D

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Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans von Symoens, Sofie, Malfait, Fransiska, D'hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans Peter, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul J

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ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation von Sante, Tom, Vergult, Sarah, Volders, Pieter-Jan, Kloosterman, Wigard P, Trooskens, Geert, De Preter, Katleen, Dheedene, Annelies, Speleman, Frank, De Meyer, Tim, Menten, Björn

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A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment von SCHRAUWEN, Isabelle, HELFMANN, Sarah, DHEEDENE, Annelies, CLAES, Charlotte, FRANSEN, Erik, HASHEMZADEH CHALESHTORI, Morteza, COUCKE, Paul, LEE, Amy, MOSER, Tobias, VAN CAMP, Guy, INAGAKI, Akira, PREDOEHL, Friederike, AMIN TABATABAIEFAR, Mohammad, MAGDALENA PICHER, Maria, SOMMEN, Manou, ZAZO SECO, Celia, OOSTRIK, Jaap, KREMER, Hannie

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Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage von Christodoulou, Christodoulos, M.Sc, Dheedene, Annelies, M.Sc, Heindryckx, Björn, Ph.D, van Nieuwerburgh, Filip, Ph.D, Deforce, Dieter, Ph.D, De Sutter, Petra, M.D., Ph.D, Menten, Björn, Ph.D, Van den Abbeel, Etienne, Ph.D

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

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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants von 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, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies, Cui, Hong, Kumar, Vishal, Thomson, Glen, Riccardi, Florence, Gecz, Jozef, Villard, Laurent

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Performance of a TthPrimPol-based whole genome amplification kit for copy number alteration detection using massively parallel sequencing von Deleye, Lieselot, De Coninck, Dieter, Dheedene, Annelies, De Sutter, Petra, Menten, Björn, Deforce, Dieter, Van Nieuwerburgh, Filip

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Confirmation of an ARID2 defect in SWI/SNF‐related intellectual disability von Van Paemel, Ruben, De Bruyne, Pauline, van der Straaten, Saskia, D'hondt, Marleen, Fränkel, Urlien, Dheedene, Annelies, Menten, Björn, Callewaert, Bert

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Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia von Hellemans, Jan, Simon, Marleen, Dheedene, Annelies, Alanay, Yasemin, Mihci, Ercan, Rifai, Laila, Sefiani, Abdelaziz, van Bever, Yolande, Meradji, Morteza, Superti-Furga, Andrea, Mortier, Geert

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WisecondorX: improved copy number detection for routine shallow whole-genome sequencing von Raman, Lennart, Dheedene, Annelies, De Smet, Matthias, Van Dorpe, Jo, Menten, Björn

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Low feasibility of in vitro matured oocytes originating from cumulus complexes found during ovarian tissue preparation at the moment of gender confirmation surgery and during testo... von Lierman, Sylvie, Tolpe, Annelies, De Croo, Ilse, De Gheselle, Stefanie, Defreyne, Justine, Baetens, Machteld, Dheedene, Annelies, Colman, Roos, Menten, Björn, T’Sjoen, Guy, De Sutter, Petra, Tilleman, Kelly

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Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis von Syryn, Hannes, Van de Velde, Julie, De Clercq, Griet, Verdin, Hannah, Dheedene, Annelies, Peelman, Frank, Sinclair, Andrew, Ayers, Katie L, Bathgate, Ross A D, Cools, Martine, De Baere, Elfride

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PREFACE: In silico pipeline for accurate cell‐free fetal DNA fraction prediction von Raman, Lennart, Baetens, Machteld, De Smet, Matthias, Dheedene, Annelies, Van Dorpe, Jo, Menten, Björn

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WisecondorX : improved copy number detection for routine shallow whole-genome sequencing von Raman, Lennart, Dheedene, Annelies, De Smet, Matthias, Van Dorpe, Jo, Menten, Björn

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Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability von Vergult, Sarah, Dheedene, Annelies, Meurs, Alfred, Faes, Fran, Isidor, Bertrand, Janssens, Sandra, Gautier, Agnès, Le Caignec, Cédric, Menten, Björn

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