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184 results on '"Dheedene, Annelies"'

1. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Author: Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, and Colin, Estelle
Published: 2024
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2. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Author: Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, and Callewaert, Bert
Published: 2024
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3. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Author: 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, and Villard, Laurent
Subjects: Biological Sciences, Genetics, Rare Diseases, Digestive Diseases, Liver Disease, Brain Disorders, Clinical Research, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Deafness, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intellectual Disability, Loss of Function Mutation, Male, Membrane Proteins, Mutation, Missense, Pedigree, Phenotype, Syndrome, Care4Rare Canada Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract: The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families (six loss of function (LoF) and one missense). Patients had severe intellectual disability (ID), dystonia, deafness, and central hypomyelination, delineating a so-called deafness, dystonia and cerebral hypomyelination syndrome (DDCH). Female carriers are mostly asymptomatic but may present with deafness. BCAP31 is flanked by the SLC6A8 and ABCD1 genes. Contiguous deletions of BCAP31 and ABCD1 and/or SLC6A8 have been described in 12 patients. Patients with deletions including BCAP31 and SLC6A8 have the same phenotype as BCAP31 patients. Patients with deletions of BCAP31 and ABCD1 have contiguous ABCD1 and DXS1375E/BCAP31 deletion syndrome (CADDS), and demonstrate a more severe neurological phenotype with cholestatic liver disease and early death. We report 17 novel families, 14 with intragenic BCAP31 variants (LoF and missense) and three with a deletion of BCAP31 and adjacent genes (comprising two CADDS patients, one male and one symptomatic female). Our study confirms the phenotype reported in males with intragenic LoF variants and shows that males with missense variants exhibit a milder phenotype. Most patients with a LoF pathogenic BCAP31 variant have permanent or transient liver enzyme elevation. We further demonstrate that carrier females (n = 10) may have a phenotype comprising LD, ID, and/or deafness. The male with CADDS had a severe neurological phenotype, but no cholestatic liver disease, and the symptomatic female had moderate ID and cholestatic liver disease.
Published: 2021

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

Author: 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 RP, 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, and Bhoj, Elizabeth J
Subjects: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Amino Acid Sequence, Cadherins, Cell Adhesion, Cell Movement, Craniofacial Abnormalities, Female, Foot Deformities, Congenital, Genetic Variation, Hand Deformities, Congenital, Heterozygote, Homozygote, Humans, Hypertelorism, Male, Pedigree, Phenotype, Genetics, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine
Abstract: Teebi hypertelorism syndrome (THS; OMIM 145420) is a rare craniofacial disorder characterized by hypertelorism, prominent forehead, short nose with broad or depressed nasal root. Some cases of THS have been attributed to SPECC1L variants. Homozygous variants in CDH11 truncating the transmembrane and intracellular domains have been implicated in Elsahy-Waters syndrome (EWS; OMIM 211380) with hypertelorism. We report THS due to CDH11 heterozygous missense variants on 19 subjects from 9 families. All affected residues in the extracellular region of Cadherin-11 (CHD11) are highly conserved across vertebrate species and classical cadherins. Six of the variants that cluster around the EC2-EC3 and EC3-EC4 linker regions are predicted to affect Ca2+ binding that is required for cadherin stability. Two of the additional variants [c.164G > C, p.(Trp55Ser) and c.418G > A, p.(Glu140Lys)] are also notable as they are predicted to directly affect trans-homodimer formation. Immunohistochemical study demonstrates that CDH11 is strongly expressed in human facial mesenchyme. Using multiple functional assays, we show that five variants from the EC1, EC2-EC3 linker, and EC3 regions significantly reduced the cell-substrate trans adhesion activity and one variant from EC3-EC4 linker results in changes in cell morphology, focal adhesion, and migration, suggesting dominant negative effect. Characteristic features in this cohort included depressed nasal root, cardiac and umbilical defects. These features distinguished this phenotype from that seen in SPECC1L-related hypertelorism syndrome and CDH11-related EWS. Our results demonstrate heterozygous variants in CDH11, which decrease cell-cell adhesion and increase cell migratory behavior, cause a form of THS, as termed CDH11-related THS.
Published: 2021

5. Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.

Author: Syryn, Hannes, Velde, Julie Van de, Clercq, Griet De, Verdin, Hannah, Dheedene, Annelies, Peelman, Frank, Sinclair, Andrew, Ayers, Katie L, Bathgate, Ross A D, Cools, Martine, and Baere, Elfride De
Subjects: MALE infertility, CYCLIC adenylic acid, MISSENSE mutation, FETAL development, REPORTER genes, SPERMATOGENESIS
Abstract: STUDY QUESTION Does RXFP2 disruption impair male fertility? SUMMARY ANSWER We identified biallelic variants in RXFP2 in patients with male infertility due to spermatogenic arrest at the spermatid stage, supporting a role of RXFP2 in human spermatogenesis, specifically in germ cell maturation. WHAT IS KNOWN ALREADY Since RXFP2, the receptor for INSL3, plays a crucial role in testicular descent during prenatal development, biallelic variants lead to bilateral cryptorchidism, as described in four families to date. While animal models have also suggested a function in spermatogenesis, the postnatal functions of RXFP2 and its ligand INSL3, produced in large amounts by the testes from puberty throughout adulthood, are largely unknown. STUDY DESIGN, SIZE, DURATION A family with two male members affected by impaired fertility due to spermatogenic maturation arrest and a history of bilateral cryptorchidism underwent clinical, endocrinological, histological, genomic, in vitro cellular, and in silico investigations. PARTICIPANTS/MATERIALS, SETTING, METHODS The endocrinological and histological findings were correlated with publicly available single-cell RNA sequencing (scRNA-seq) data. The genomic defects have been characterized using long-read sequencing and validated with in silico modeling and an in vitro cyclic AMP reporter gene assay. MAIN RESULTS AND THE ROLE OF CHANCE An intragenic deletion of exon 1–5 of RXFP2 (NM_130806.5) was detected in trans with a hemizygous missense variant c.229G>A, p.(Glu77Lys). The p.(Glu77Lys) variant caused no clear change in cell surface expression or ability to bind INSL3, but displayed absence of a cAMP signal in response to INSL3, indicating a loss-of-function. Testicular biopsy in the proband showed a maturation arrest at the spermatid stage, corresponding to the highest level of RXFP2 expression in scRNA-seq data, thereby providing a potential explanation for the impaired fertility. LIMITATIONS, REASONS FOR CAUTION Although this is so far the only study of human cases that supports the role of RXFP2 in spermatogenic maturation, this is corroborated by several animal studies that have already demonstrated a postnatal function of INSL3 and RXFP2 in spermatogenesis. WIDER IMPLICATIONS OF THE FINDINGS This study corroborates RXFP2 as gene implicated in autosomal recessive congenital bilateral cryptorchidism due to biallelic variants, rather than autosomal-dominant cryptorchidism due to monoallelic RXFP2 variants. Our findings also support that RXFP2 is essential in human spermatogenesis, specifically in germ cell maturation, and that biallelic disruption can cause male infertility through spermatogenic arrest at the spermatid stage. STUDY FUNDING/COMPETING INTEREST(S) Funding was provided by the Bellux Society for Pediatric Endocrinology and Diabetology (BELSPEED) and supported by a Research Foundation Flanders (FWO) senior clinical investigator grant (E.D.B. 1802220N) and a Ghent University Hospital Special Research Fund grant (M.C. FIKO-IV institutional fund). The authors declare no conflict of interest. TRIAL REGISTRATION NUMBER N/A. [ABSTRACT FROM AUTHOR]
Published: 2024
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6. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Author: 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, and Lecoquierre, François
Published: 2022
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7. 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 testosterone treatment for fertility preservation in transgender men

Author: 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, and Tilleman, Kelly
Published: 2021
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8. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Author: 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, and Vermeesch, Joris Robert
Published: 2021
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9. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Author: Genetica, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, Colin, Estelle, Genetica, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, and Colin, Estelle
Published: 2024

10. Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Author: Pozza, Elise, Verdin, Hannah, Deconinck, Hilde, Dheedene, Annelies, Menten, Björn, De Baere, Elfride, and Balikova, Irina
Published: 2020
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11. Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue

Author: Van der Linden, Malaika, Raman, Lennart, Trappen, Ansel Vander, Dheedene, Annelies, de Smet, Matthias, Sante, Tom, Creytens, David, Lievens, Yolande, Menten, Bjorn, Van Dorpe, Jo, and Van Roy, Nadine
Subjects: Agilent Technologies Inc., DNA sequencing -- Usage -- Analysis -- Genetic aspects, Tumors -- Genetic aspects, Medical research -- Analysis -- Usage, Cytogenetics -- Usage -- Analysis -- Genetic aspects, Genomes -- Analysis -- Usage -- Genetic aspects, Formaldehyde -- Usage, Genomics -- Usage -- Genetic aspects -- Analysis, Health
Abstract: Context.--In routine clinical practice, tumor tissue is stored in formalin-fixed, paraffin-embedded blocks. However, the use of formalin-fixed, paraffin-embedded tissue for genome analysis is challenged by poorer DNA quality and quantity. Although several studies have reported genome-wide massive parallel sequencing applied on formalin-fixed, paraffin-embedded samples for mutation analysis, copy number analysis is not yet commonly performed. Objective.--To evaluate the use of formalin-fixed, paraffin-embedded tissue for copy number alteration detection using shallow whole-genome sequencing, more generally referred to as copy number variation sequencing. Design.--We selected samples from 21 patients, covering a range of different tumor entities. The performance of copy number detection was compared across 3 setups: array comparative genomic hybridization in combination with fresh material; copy number variation sequencing on fresh material; and copy number variation sequencing on formalin-fixed, paraffin-embedded material. Results.--Very similar copy number profiles between paired samples were obtained. Although formalin-fixed, paraffin-embedded profiles often displayed more noise, detected copy numbers seemed equally reliable if the tumor fraction was at least 20%. Conclusions.--Copy number variation sequencing of formalin-fixed, paraffin-embedded material represents a trustworthy method. It is very likely that copy number variation sequencing of routinely obtained biopsy material will become important for individual patient care and research. Moreover, the basic technology needed for copy number variation sequencing is present in most molecular diagnostics laboratories. doi: 10.5858/arpa.2019-0010-OA, The preparation of formalin-fixed, paraffin-embedded (FFPE) tissue is routine clinical practice in every laboratory for surgical pathology. This process ensures preservation of cell and tissue structures and proteins important for [...]
Published: 2020
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12. supplemental figures from Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients

Author: Van Roy, Nadine, primary, Van Der Linden, Malaïka, primary, Menten, Björn, primary, Dheedene, Annelies, primary, Vandeputte, Charlotte, primary, Van Dorpe, Jo, primary, Laureys, Geneviève, primary, Renard, Marleen, primary, Sante, Tom, primary, Lammens, Tim, primary, De Wilde, Bram, primary, Speleman, Frank, primary, and De Preter, Katleen, primary
Published: 2023
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13. A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

Author: del Rocío Pérez Baca, María, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, Maria, Carels, Marieke, Demaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, and Callewaert, Bert
Subjects: Article
Abstract: Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function variation in ZFHX3 as a novel cause for syndromic intellectual disability (ID). ZFHX3, previously known as ATBF1, is a zinc-finger homeodomain transcription factor involved in multiple biological processes including cell differentiation and tumorigenesis. Through international collaboration, we collected clinical and morphometric data (Face2Gene) of 41 individuals with protein truncating variants (PTVs) or (partial) deletions of ZFHX3 . We used data mining, RNA and protein analysis to identify the subcellular localization and spatiotemporal expression of ZFHX3 in multiple in vitro models. We identified the DNA targets of ZFHX3 using ChIP seq. Immunoprecipitation followed by mass spectrometry indicated potential binding partners of endogenous ZFHX3 in neural stem cells that were subsequently confirmed by reversed co-immunoprecipitation and western blot. We evaluated a DNA methylation profile associated with ZFHX3 haploinsufficiency using DNA methylation analysis on whole blood extracted DNA of six individuals with ZFHX3 PTVs and four with a (partial) deletion of ZFHX3 . A reversed genetic approach characterized the ZFHX3 orthologue in Drosophila melanogaster . Loss-of-function variation of ZFHX3 consistently associates with (mild) ID and/or behavioural problems, postnatal growth retardation, feeding difficulties, and recognizable facial characteristics, including the rare occurrence of cleft palate. Nuclear abundance of ZFHX3 increases during human brain development and neuronal differentiation in neural stem cells and SH-SY5Y cells, ZFHX3 interacts with the chromatin remodelling BRG1/Brm-associated factor complex and the cleavage and polyadenylation complex. In line with a role for chromatin remodelling, ZFHX3 haploinsufficiency associates with a specific DNA methylation profile in leukocyte-derived DNA. The target genes of ZFHX3 are implicated in neuron and axon development. In Drosophila melanogaster , z fh2, considered to be the ZFHX3 orthologue, is expressed in the third instar larval brain. Ubiquitous and neuron-specific knockdown of zfh2 results in adult lethality underscoring a key role for zfh2 in development and neurodevelopment. Interestingly, ectopic expression of zfh2 as well as ZFHX3 in the developing wing disc results in a thoracic cleft phenotype. Collectively, our data shows that loss-of-function variants in ZFHX3 are a cause of syndromic ID, that associates with a specific DNA methylation profile. Furthermore, we show that ZFHX3 participates in chromatin remodelling and mRNA processing.
Published: 2023

14. Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

Author: Vanakker, Olivier, Vilain, Catheline, Janssens, Katrien, Van der Aa, Nathalie, Smits, Guillaume, Bandelier, Claude, Blaumeiser, Bettina, Bulk, Saskia, Caberg, Jean-Hubert, De Leener, Anne, De Rademaeker, Marjan, de Ravel, Thomy, Desir, Julie, Destree, Anne, Dheedene, Annelies, Gaillez, Stéphane, Grisart, Bernard, Hellin, Ann-Cécile, Janssens, Sandra, Keymolen, Kathelijn, Menten, Björn, Pichon, Bruno, Ravoet, Marie, Revencu, Nicole, Rombout, Sonia, Staessens, Catherine, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris R., Kooy, Frank, Sznajer, Yves, and Devriendt, Koen
Published: 2014
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15. Confirmation of an ARID2 defect in SWI/SNF‐related intellectual disability

Author: Van Paemel, Ruben, De Bruyne, Pauline, van der Straaten, Saskia, Dʼhondt, Marleen, Fränkel, Urlien, Dheedene, Annelies, Menten, Björn, and Callewaert, Bert
Published: 2017
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16. FOXP1-related intellectual disability syndrome: a recognisable entity

Author: 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, and Callewaert, Bert
Published: 2017
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17. Expanding the Phenotype of B3GALNT2-Related Disorders

Author: D’haenens, Erika, primary, Vergult, Sarah, additional, Menten, Björn, additional, Dheedene, Annelies, additional, Kooy, R. Frank, additional, and Callewaert, Bert, additional
Published: 2022
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18. A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

Author: Pérez Baca, Maria del Rocio, Jacobs, Eva, Vantomme, Lies, LeBlanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Dermaut, Bart, Foroutan, Aidin, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Consortium, ZFHX3, Menten, Björn, Yuan, Bo, Vergult, Sarah, and Callewaert, Bert
Subjects: Medicine and Health Sciences
Abstract: Neurodevelopmental disorders result from impaired development and functioning of the brain. Here, we identify loss-of-function variation in ZFHX3 as a novel cause for syndromic intellectual disability (ID). ZFHX3, previously known as ATBF1, is a zinc-finger homeodomain transcription factor involved in multiple biological processes including cell differentiation and tumorigenesis. Through international collaboration, we collected clinical data of 34 individuals with premature truncating variants or (partial) deletions of ZFHX3. Loss-of-function variation of ZFHX3 consistently associates with (mild) ID, postnatal growth retardation, feeding difficulties, and recognizable facial characteristics as supported by artificial intelligence (Face2Gene). Data-mining and in-house generated expression data show increased nuclear expression of ZFHX3 during human brain development and neuronal differentiation. To identify the direct binding partners of ZFHX3, we performed immunoprecipitation followed by mass spectrometry in neural stem cells and SH-SY5Y. We show that ZFHX3 interacts with the chromatin remodelling BRG1/Brm-associated factor complex and the cleavage and polyadenylation complex. In addition, we identified a specific DNA methylation signature in leukocyte-derived DNA. In Drosophila melanogaster, ZFH2 is considered the ZFHX3 orthologue. We used a reverse genetic approach to characterize ZFH2 deficiency in Drosophila melanogaster. ZFH2 is expressed in the third instar larval brain and its knockdown results in an adult lethal phenotype, suggestive for a key role in development. In conclusion, loss-of-function variants in ZFHX3 are a novel cause for syndromic ID and are associated with a specific DNA methylation episignature. Our results indicate a role for ZFHX3 in chromatin remodelling and mRNA processing.
Published: 2022

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

Author: Coursimault, Juliette, primary, Guerrot, Anne-Marie, additional, Morrow, Michelle M., additional, Schramm, Catherine, additional, Zamora, Francisca Millan, additional, Shanmugham, Anita, additional, Liu, Shuxi, additional, Zou, Fanggeng, additional, Bilan, Frédéric, additional, Le Guyader, Gwenaël, additional, Bruel, Ange-Line, additional, Denommé-Pichon, Anne-Sophie, additional, Faivre, Laurence, additional, Tran Mau-Them, Frédéric, additional, Tessarech, Marine, additional, Colin, Estelle, additional, El Chehadeh, Salima, additional, Gérard, Bénédicte, additional, Schaefer, Elise, additional, Cogne, Benjamin, additional, Isidor, Bertrand, additional, Nizon, Mathilde, additional, Doummar, Diane, additional, Valence, Stéphanie, additional, Héron, Delphine, additional, Keren, Boris, additional, Mignot, Cyril, additional, Coutton, Charles, additional, Devillard, Françoise, additional, Alaix, Anne-Sophie, additional, Amiel, Jeanne, additional, Colleaux, Laurence, additional, Munnich, Arnold, additional, Poirier, Karine, additional, Rio, Marlène, additional, Rondeau, Sophie, additional, Barcia, Giulia, additional, Callewaert, Bert, additional, Dheedene, Annelies, additional, Kumps, Candy, additional, Vergult, Sarah, additional, Menten, Björn, additional, Chung, Wendy K., additional, Hernan, Rebecca, additional, Larson, Austin, additional, Nori, Kelly, additional, Stewart, Sarah, additional, Wheless, James, additional, Kresge, Christina, additional, Pletcher, Beth A., additional, Caumes, Roseline, additional, Smol, Thomas, additional, Sigaudy, Sabine, additional, Coubes, Christine, additional, Helm, Margaret, additional, Smith, Rosemarie, additional, Morrison, Jennifer, additional, Wheeler, Patricia G., additional, Kritzer, Amy, additional, Jouret, Guillaume, additional, Afenjar, Alexandra, additional, Deleuze, Jean-François, additional, Olaso, Robert, additional, Boland, Anne, additional, Poitou, Christine, additional, Frebourg, Thierry, additional, Houdayer, Claude, additional, Saugier-Veber, Pascale, additional, Nicolas, Gaël, additional, and Lecoquierre, François, additional
Published: 2021
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20. Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India

Author: Shenoy, Rathika D., primary, Shetty, Vikram, additional, Dheedene, Annelies, additional, Menten, Björn, additional, Pandyanda Nanjappa, Dechamma, additional, Chakraborty, Gunimala, additional, Sips, Patrick, additional, de Paepe, Anne, additional, Callewaert, Bert, additional, and Chakraborty, Anirban, additional
Published: 2021
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21. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

Author: Huckert, Mathilde, Stoetzel, Corinne, Morkmued, Supawich, Laugel-Haushalter, Virginie, Geoffroy, Véronique, Muller, Jean, Clauss, François, Prasad, Megana K., Obry, Frédéric, Raymond, Jean Louis, Switala, Marzena, Alembik, Yves, Soskin, Sylvie, Mathieu, Eric, Hemmerlé, Joseph, Weickert, Jean-Luc, Dabovic, Branka Brukner, Rifkin, Daniel B., Dheedene, Annelies, Boudin, Eveline, Caluseriu, Oana, Cholette, Marie-Claude, Mcleod, Ross, Antequera, Reynaldo, Gellé, Marie-Paule, Coeuriot, Jean-Louis, Jacquelin, Louis-Frédéric, Bailleul-Forestier, Isabelle, Manière, Marie-Cécile, Van Hul, Wim, Bertola, Debora, Dollé, Pascal, Verloes, Alain, Mortier, Geert, Dollfus, Hélène, and Bloch-Zupan, Agnès
Published: 2015
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22. Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis–van Creveld syndrome

Author: DʼAmbrosio, Valentina, Votino, Carmela, Cos, Teresa, Boulanger, Sebastien, Dheedene, Annelies, Jani, Jacques, and Keymolen, Kathelijn
Published: 2015
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23. Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.

Author: Shenoy, Rathika D., Shetty, Vikram, Dheedene, Annelies, Menten, Björn, Pandyanda Nanjappa, Dechamma, Chakraborty, Gunimala, Sips, Patrick, de Paepe, Anne, Callewaert, Bert, and Chakraborty, Anirban
Subjects: MANDIBULOFACIAL dysostosis, DEAFNESS, HEALTH outcome assessment, COLOBOMA, MICROCEPHALY, GENOTYPES, MEDICAL genetics, PHENOTYPES
Abstract: Objective: Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic information from South India. Design: The study is a case series. Setting: This was an international collaborative study involving a tertiary craniofacial clinic and medical genetics unit. Patients, Participants: The participants were 9 families with 17 affected individuals of facial dysostosis. Intervention: Exome analysis focused on known genes associated with acrofacial and mandibulofacial syndromes. Main Outcome Measure: The outcome measure was to report phenotyptic and genetic heterogeneity in affected individuals. Results: A Tessier cleft was seen in 7 (41%), lower eyelid coloboma in 12 (65%), ear anomalies in 10 (59%), uniolateral or bilateral aural atresia in 4 (24%), and deafness in 6 (35%). The facial gestalt of Treacher Collins syndrome (TCS) showed extensive phenotypic variations. Pathogenic variants in TCOF1 (Treacher Collins syndrome) were seen in six families, POLR1A (acrofacial dysostosis, Cincinnati type) and EFTUD2 (mandibulofacial dysostosis with microcephaly) in one each. One family (11.1%) had no detectable variation. Five out of six probands with Treacher Collins syndrome had other affected family members (83.3%), including a non-penetrant mother, identified after sequencing. Conclusion: Our report illustrates the molecular heterogeneity of mandibulofacial dysostosis in India. [ABSTRACT FROM AUTHOR]
Published: 2022
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24. A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome

Author: Meerschaut, Ilse, primary, Vergult, Sarah, additional, Dheedene, Annelies, additional, Menten, Björn, additional, De Groote, Katya, additional, De Wilde, Hans, additional, Muiño Mosquera, Laura, additional, Panzer, Joseph, additional, Vandekerckhove, Kristof, additional, Coucke, Paul J., additional, De Wolf, Daniël, additional, and Callewaert, Bert, additional
Published: 2021
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25. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.

Author: UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, 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, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, 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, and Janssens, Katrien
Abstract: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies. We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography. Follow-up invasive testing was carried out in the event of positive NIPT results. Sensitivity and specificity were calculated for the detection of trisomy 21, 18, and 13 in the dichorionic-diamniotic twin cohort. Unique NIPT analyses were performed for 4,150 pregnant women with a multiple gestation and an additional 767 with vanishing gestations. The failure rate in multiple gestations excluding vanishing gestations ranged from 0% to 11.7% among the different genetic centers. Overall, the failure rate was 4.8%, which could be reduced to 1.2% after single resampling. There were no common fetal trisomies detected among the 86 monochorionic-monoamniotic and 25 triplet cases. Two monochorionic-diamniotic twins had an NIPT result indicative of a trisomy 21, which was confirmed in both fetuses. Among 2,716 dichorionic-diamniotic twin gestations, a sensitivity of 100% (95% CI 74.12-100%) and a specificity of 100% (95% CI 99.86-100%) was reached for trisomy 21 (n=12). For trisomy 18 (n=3), the respective values were 75% (95% CI 30.06-95.44%) sensitivity and 100% (95% CI 99.86-100%) specificity, and for trisomy 13 (n=2), 100% (95% CI 20.65-100%) sensitivity and 99.96% (95% CI 99.79-99.99%) specificity. In the vanishing gestation group, 28 NIPT results were positive for trisomy 21, 18, or 13, with only five confirmed trisomies. Genome-wide NIPT performed accurately for detection of aneuploidy in dichorionic-diamniotic twin gestations.
Published: 2021

26. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.

Author: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, 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, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, 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, and Vermeesch, Joris Robert
Abstract: Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first-tier screening test offered to all pregnant women. A consortium consisting of all Belgian genetic centers report the outcome of two years genome-wide NIPS implementation. The performance for the common trisomies and for secondary findings was evaluated based on 153,575 genome-wide NIP tests. Furthermore, the evolution of the number of invasive tests and the incidence of Down syndrome live births was registered. Trisomies 21, 18, and 13 were detected in respectively 0.32%, 0.07%, and 0.06% of cases, with overall positive predictive values (PPVs) of 92.4%, 84.6%, and 43.9%. Rare autosomal trisomies and fetal segmental imbalances were detected in respectively 0.23% and 0.07% of cases with PPVs of 4.1% and 47%. The number of invasive obstetric procedures decreased by 52%. The number of trisomy 21 live births dropped to 0.04%. Expanding the scope of NIPS beyond trisomy 21 fetal screening allows the implementation of personalized genomic medicine for the obstetric population. This genome-wide NIPS approach has been embedded successfully in prenatal genetic care in Belgium and might serve as a framework for other countries offering NIPS.
Published: 2021

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

Author: Dheedene, Annelies, Deleye, Steven, Hellemans, Jan, Staelens, Steven, Vandenberghe, Stefaan, and Mortier, Geert
Published: 2009
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28. Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia

Author: Hellemans, Jan, Simon, Marleen, Dheedene, Annelies, Alanay, Yasemin, Mihci, Ercan, Rifai, Laila, Sefiani, Abdelaziz, van Bever, Yolande, Meradji, Morteza, Superti-Furga, Andrea, and Mortier, Geert
Subjects: Dysplasia -- Genetic aspects, Gene mutations -- Analysis, Human genome -- Analysis, Bones -- Abnormalities, Bones -- Genetic aspects, Biological sciences
Abstract: Several studies are conducted to explain the different causes, symptoms and effects of spon dylo-megaepiphyseal-metaphyseal dysplasia (SMMD), a very rare skeletal dysplasia caused in humans. The results demonstrate that the mutations taking place in the NKX3-2 gene play an extremely significant role in the onset of the disorder.
Published: 2009

29. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

Author: van Riel, Margot, primary, Brison, Nathalie, additional, Baetens, Machteld, additional, Blaumeiser, Bettina, additional, Boemer, François, additional, Bourlard, Laura, additional, Bulk, Saskia, additional, De Leener, Anne, additional, Désir, Julie, additional, Devriendt, Koenraad, additional, Dheedene, Annelies, additional, Duquenne, Armelle, additional, Fieremans, Nathalie, additional, Fieuw, Annelies, additional, Gatot, Jean-Stéphane, additional, Grisart, Bernard, additional, Janssens, Sandra, additional, Khudashvili, Naïri, additional, Lannoo, Lore, additional, Marichal, Axel, additional, Meunier, Colombine, additional, Palmeira, Leonor, additional, Parijs, Ilse, additional, Pichon, Bruno, additional, Roets, Ellen, additional, Sammels, Eva, additional, Smits, Guillaume, additional, Suenaert, Marion, additional, Sznajer, Yves, additional, Van den Bogaert, Kris, additional, Vancoillie, Leen, additional, Vandeputte, Lotte, additional, Vantroys, Elise, additional, Vermeesch, Joris Robert, additional, and Janssens, Katrien, additional
Published: 2021
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30. Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.

Author: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Muys, Joke, Jacquemyn, Yves, Blaumeiser, Bettina, Bourlard, Laura, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Duquenne, Armelle, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Jamar, Mauricette, Janssens, Sandra, Kerstjens, Jorien, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris, Janssens, Katrien, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Muys, Joke, Jacquemyn, Yves, Blaumeiser, Bettina, Bourlard, Laura, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Duquenne, Armelle, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Jamar, Mauricette, Janssens, Sandra, Kerstjens, Jorien, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris, and Janssens, Katrien
Abstract: OBJECTIVE: Belgian genetic centers established a database containing data on all chromosomal microarrays performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally with a non-benign copy number variant (CNV). METHODS: All children diagnosed with a prenatally detected non-benign CNV in a Belgian genetic center between May 2013 and February 2015 were included in the patient population. The control population consisted of children who had undergone an invasive procedure during pregnancy, with no or only benign CNVs. Child development was evaluated at 36 months using three (3) questionnaires: Ages and Stages Questionnaire Third edition, Ages and Stages Questionnaire Social-Emotional Second Edition and a general questionnaire. RESULTS: A significant difference in communication and personal-social development was detected between children with a reported susceptibility CNV and both children with an unreported susceptibility CNV and the control population. The outcome of children with a particular CNV is discussed in a case-by-case manner. CONCLUSION: Our postnatal follow-up project of children with a prenatally detected non-benign CNV is the first nationwide project of its kind. A higher number of cases for each CNV category is however needed to confirm our findings.
Published: 2020

31. Expanding the Phenotype of B3GALNT2-Related Disorders.

Author: D'haenens, Erika, Vergult, Sarah, Menten, Björn, Dheedene, Annelies, Kooy, R. Frank, and Callewaert, Bert
Subjects: LIMB-girdle muscular dystrophy, MUSCULAR dystrophy, AUTISM spectrum disorders, PHENOTYPES, EXOMES, DEVELOPMENTAL delay
Abstract: Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle–eye–brain disease, Walker–Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical heterogeneity, CMDs are characterized by genetic heterogeneity. To date, 18 genes have been associated with CMDs. One of them is B3GALNT2, which encodes the β-1,3-N-acetylgalactosaminyltransferase 2 that glycosylates α-dystroglycan. In this study, using exome sequencing, we identify a homozygous frameshift variant in B3GALNT2 due to a mixed uniparental disomy of chromosome 1 in a 7-year-old girl with global developmental delay, severely delayed active language development, and autism spectrum disorder but without any symptoms of muscular dystrophy. In addition to this case, we also provide an overview of all previously reported cases, further expanding the phenotypic spectrum. [ABSTRACT FROM AUTHOR]
Published: 2022
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32. Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

Author: Jacobs, Eva Z., primary, Brown, Kathleen, additional, Byler, Melissa C., additional, D'haenens, Erika, additional, Dheedene, Annelies, additional, Henderson, Lindsay B., additional, Humberson, Jennifer B., additional, van Jaarsveld, Richard H., additional, Kanani, Farah, additional, Lebel, Robert Roger, additional, Millan, Francisca, additional, Oegema, Renske, additional, Oostra, Ann, additional, Parker, Michael J., additional, Rhodes, Lindsay, additional, Saenz, Margarita, additional, Seaver, Laurie H., additional, Si, Yue, additional, Vanlander, Arnaud, additional, Vergult, Sarah, additional, and Callewaert, Bert, additional
Published: 2020
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33. Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study

Author: Muys, Joke, primary, Jacquemyn, Yves, additional, Blaumeiser, Bettina, additional, Bourlard, Laura, additional, Brison, Nathalie, additional, Bulk, Saskia, additional, Chiarappa, Patrizia, additional, De Leener, Anne, additional, De Rademaeker, Marjan, additional, Désir, Julie, additional, Destrée, Anne, additional, Devriendt, Koenraad, additional, Dheedene, Annelies, additional, Duquenne, Armelle, additional, Fieuw, Annelies, additional, Fransen, Erik, additional, Gatot, Jean‐Stéphane, additional, Jamar, Mauricette, additional, Janssens, Sandra, additional, Kerstjens, Jorien, additional, Keymolen, Kathelijn, additional, Lederer, Damien, additional, Menten, Björn, additional, Pichon, Bruno, additional, Rombout, Sonia, additional, Sznajer, Yves, additional, Van Den Bogaert, Ann, additional, Van Den Bogaert, Kris, additional, Vermeesch, Joris, additional, and Janssens, Katrien, additional
Published: 2020
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34. Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue

Author: Van der Linden, Malaïka, primary, Raman, Lennart, additional, Vander Trappen, Ansel, additional, Dheedene, Annelies, additional, De Smet, Matthias, additional, Sante, Tom, additional, Creytens, David, additional, Lievens, Yolande, additional, Menten, Björn, additional, Van Dorpe, Jo, additional, and Van Roy, Nadine, additional
Published: 2019
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35. The BElgian PREnatal MicroArray (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

Author: Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destree, Anne, Devriendt, Koenraad, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauicette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris, and Janssens, Katrien
Subjects: Human medicine, Biology
Abstract: Objective With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. Methods The BElgian PREnatal MicroArray (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. Results In this three‐year period, 13266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs 31.5% would have remained undetected with NIPT as the first‐tier test. Conclusion The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype‐phenotype correlation.
Published: 2018

36. PREFACE: In silico pipeline for accurate cell‐free fetal DNA fraction prediction

Author: Raman, Lennart, primary, Baetens, Machteld, additional, De Smet, Matthias, additional, Dheedene, Annelies, additional, Van Dorpe, Jo, additional, and Menten, Björn, additional
Published: 2019
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37. Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family

Author: Heireman, Laura, primary, Luyckx, Ariane, additional, Schynkel, Katrien De, additional, Dheedene, Annelies, additional, Delaunoy, Mélanie, additional, Adam, Anne-Sophie, additional, Gulbis, Béatrice, additional, and Dierick, Johan, additional
Published: 2019
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38. WisecondorX: improved copy number detection for routine shallow whole-genome sequencing

Author: Raman, Lennart, primary, Dheedene, Annelies, additional, De Smet, Matthias, additional, Van Dorpe, Jo, additional, and Menten, Björn, additional
Published: 2018
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39. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.

Author: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris, Janssens, Katrien, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris, and Janssens, Katrien
Abstract: OBJECTIVE: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. METHODS: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. RESULTS: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non-invasive prenatal test as the first-tier test. CONCLUSION: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype-phenotype correlation.
Published: 2018

40. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

Author: Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Donckier De Donceel, Annette, Devriendt, Koen, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije E C, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris Robert, Janssens, Katrien, Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Donckier De Donceel, Annette, Devriendt, Koen, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean-Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije E C, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris Robert, and Janssens, Katrien
Abstract: Objective: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. Methods: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. Results: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non-invasive prenatal test as the first-tier test. Conclusion: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype–phenotype correlation., SCOPUS: ar.j, DecretOANoAutActif, info:eu-repo/semantics/published
Published: 2018

41. Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Author: Jacobs, Eva Z., Brown, Kathleen, Byler, Melissa C., D'haenens, Erika, Dheedene, Annelies, Henderson, Lindsay B., Humberson, Jennifer B., Jaarsveld, Richard H., Kanani, Farah, Lebel, Robert Roger, Millan, Francisca, Oegema, Renske, Oostra, Ann, Parker, Michael J., Rhodes, Lindsay, Saenz, Margarita, Seaver, Laurie H., Si, Yue, Vanlander, Arnaud, and Vergult, Sarah
Subjects: MOLECULAR spectra, PHENOTYPES, DNA copy number variations, INTELLECTUAL disabilities, DEVELOPMENTAL delay, EXOMES
Abstract: The CAMTA1‐associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, with or without intellectual disability. Here, we describe 10 individuals with CAMTA1 variants: nine previously unreported (likely) pathogenic variants comprising one missense, four frameshift and four nonsense variants, and one missense variant of unknown significance. Six patients were diagnosed following whole exome sequencing and four individuals with exome‐based targeted panel analysis. Most of them present with developmental delay, manifesting in speech and motor delay. Other frequent findings are hypotonia, cognitive impairment, cerebellar dysfunction, oculomotor abnormalities, and behavioral problems. Feeding problems occur more frequently than previously observed. In addition, we present a systematic review of 19 previously published individuals with causal variants, including copy number, truncating, and missense variants. We note a tendency of more severe cognitive impairment and recurrent dysmorphic features in individuals with a copy number variant. Pathogenic variants are predominantly observed in and near the N‐ and C‐ terminal functional domains. Clinical heterogeneity is observed, but 3′‐terminal variants seem to associate with less pronounced cerebellar dysfunction. [ABSTRACT FROM AUTHOR]
Published: 2021
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42. De novo variants in SP9cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Author: Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, and Colin, Estelle
Abstract: Interneuronopathies are a group of neurodevelopmental disorders characterized by deficient migration and differentiation of gamma-aminobutyric acidergic interneurons resulting in a broad clinical spectrum, including autism spectrum disorders, early-onset epileptic encephalopathy, intellectual disability, and schizophrenic disorders. SP9 is a transcription factor belonging to the Krüppel-like factor and specificity protein family, the members of which harbor highly conserved DNA-binding domains. SP9plays a central role in interneuron development and tangential migration, but it has not yet been implicated in a human neurodevelopmental disorder.
Published: 2024
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43. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

Author: Muys, Joke, primary, Blaumeiser, Bettina, additional, Jacquemyn, Yves, additional, Bandelier, Claude, additional, Brison, Nathalie, additional, Bulk, Saskia, additional, Chiarappa, Patrizia, additional, Courtens, Winnie, additional, De Leener, Anne, additional, De Rademaeker, Marjan, additional, Désir, Julie, additional, Destrée, Anne, additional, Devriendt, Koenraad, additional, Dheedene, Annelies, additional, Fieuw, Annelies, additional, Fransen, Erik, additional, Gatot, Jean‐Stéphane, additional, Holmgren, Philip, additional, Jamar, Mauricette, additional, Janssens, Sandra, additional, Keymolen, Kathelijn, additional, Lederer, Damien, additional, Menten, Björn, additional, Meuwissen, Marije, additional, Parmentier, Benoit, additional, Pichon, Bruno, additional, Rombout, Sonia, additional, Sznajer, Yves, additional, Van Den Bogaert, Ann, additional, Van Den Bogaert, Kris, additional, Vanakker, Olivier, additional, Vermeesch, Joris, additional, and Janssens, Katrien, additional
Published: 2018
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44. LINE- andAlu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

Author: Szafranski, Przemyslaw, primary, Kośmider, Ewelina, additional, Liu, Qian, additional, Karolak, Justyna A., additional, Currie, Lauren, additional, Parkash, Sandhya, additional, Kahler, Stephen G., additional, Roeder, Elizabeth, additional, Littlejohn, Rebecca O., additional, DeNapoli, Thomas S., additional, Shardonofsky, Felix R., additional, Henderson, Cody, additional, Powers, George, additional, Poisson, Virginie, additional, Bérubé, Denis, additional, Oligny, Luc, additional, Michaud, Jacques L., additional, Janssens, Sandra, additional, De Coen, Kris, additional, Van Dorpe, Jo, additional, Dheedene, Annelies, additional, Harting, Matthew T., additional, Weaver, Matthew D., additional, Khan, Amir M., additional, Tatevian, Nina, additional, Wambach, Jennifer, additional, Gibbs, Kathleen A., additional, Popek, Edwina, additional, Gambin, Anna, additional, and Stankiewicz, Paweł, additional
Published: 2018
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45. FOXP1 -related intellectual disability syndrome: a recognisable entity

Author: UCL - (SLuc) Département de biologie clinique et d'anatomie pathologique, UCL - (SLuc) Centre de génétique médicale UCL, Meerschaut, Ilse, Rochefort, Daniel, Revencu, 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, UCL - (SLuc) Département de biologie clinique et d'anatomie pathologique, UCL - (SLuc) Centre de génétique médicale UCL, Meerschaut, Ilse, Rochefort, Daniel, Revencu, 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, and Callewaert, Bert
Abstract: BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting. RESULTS: Patients show ID, SLI, neuromotor delay (NMD) and recurrent facial features including a high broad forehead, bent downslanting palpebral fissures, ptosis and/or blepharophimosis and a bulbous nasal tip. Behavioural problems and autistic features are common. Brain, cardiac and urogenital malformations can be associated. More severe ID and NMD, sensorineural hearing loss and feeding difficulties are more common in patients with interstitial 3p deletions (14 patients) versus patients with monogenic FOXP1 defects (34 patients). Mutations result in impaired transcriptional repression and/or reduced protein stability. CONCLUSIONS: FOXP1-related ID syndrome is a recognisable entity with a wide clinical spectrum and frequent systemic involvement. Our data will be helpful to evaluate genotype-phenotype correlations when interpreting next-generation sequencing data obtained in patients with ID and/or SLI and will guide clinical management.
Published: 2017

46. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author: Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E
Published: 2017

47. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author: Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E
Published: 2017

48. Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients

Author: Van Roy, Nadine, primary, Van Der Linden, Malaïka, additional, Menten, Björn, additional, Dheedene, Annelies, additional, Vandeputte, Charlotte, additional, Van Dorpe, Jo, additional, Laureys, Geneviève, additional, Renard, Marleen, additional, Sante, Tom, additional, Lammens, Tim, additional, De Wilde, Bram, additional, Speleman, Frank, additional, and De Preter, Katleen, additional
Published: 2017
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49. NR4A2 causes an autism spectrum disorder

Author: Verhelst, Helene, primary, Verloo, Patrick, additional, Dheedene, Annelies, additional, Callewaert, Bert, additional, and Menten, Björn, additional
Published: 2017
Full Text: View/download PDF

50. Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage

Author: Christodoulou, Christodoulos, primary, Dheedene, Annelies, additional, Heindryckx, Björn, additional, van Nieuwerburgh, Filip, additional, Deforce, Dieter, additional, De Sutter, Petra, additional, Menten, Björn, additional, and Van den Abbeel, Etienne, additional
Published: 2017
Full Text: View/download PDF

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