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Persistent Uninterpretable or Failed Prenatal Cell-Free DNA Screening Indicates a High-Risk Pregnancy and is Associated With Biological Factors Interfering With cfDNA-Analysis: A Prospective Cohort Study Lannoo, L.; van den Bogaert, K.; Belmans, A.; Brison, N.; Dehaspe, L.; De Langhe, E.; Vancoillie, L.; Parijs, I.; Vermeesch, J. R.; Devriendt, K.; Van Calsteren, K. Share Save
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy van der Sluijs, Pleuntje J.; Moutton, Sebastien; Dingemans, Alexander J. M.; Weis, Denisa; Levy, Michael A.; Boycott, Kym M.; Arberas, Claudia; Baldassarri, Margherita; Beneteau, Claire; Brusco, Alfredo; Coutton, Charles; Dabir, Tabib; Dentici, Maria L.; Devriendt, Koenraad; Faivre, Laurence; Haelst, Mieke M. van; Jizi, Khadije; Kempers, Marlies J.; Kerkhof, Jennifer; Kharbanda, Mira; Lachlan, Katherine; Marle, Nathalie; Mcconkey, Haley; Mencarelli, Maria A.; Mowat, David.; Niceta, Marcello; Nicolas, Claire; Novelli, Antonio; Orlando, Valeria; Pichon, Olivier; Rankin, Julia; Relator, Raissa.; Ropers, Fabienne G.; Rosenfeld, Jill A.; Sachdev, Rani; Sandaradura, Sarah A.; Shukarova-Angelovska, Elena; Steenbeek, Duco; Tartaglia, Marco; Tedder, Matthew A.; Trajkova, Slavica; Winer, Norbert; Woods, Jeremy; de Vries, Bert B. A.; Sadikovic, Bekim; Alders, Marielle; Santen, Gijs W. E. Share Save
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A.; Farholt, Stense; Ferreira, Carlos R.; Wolfe, Lynne A.; Gahl, William A.; Gnazzo, Maria; Goel, Himanshu; Gronborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A.; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F.; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W.; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P.; Sawyer, Sarah; Smeland, Marie Falkenberg; Stegmann, Sander; Stumpel, Constanze T.; Goel, Amy; Taylor, Juliet M.; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan Share Save
Induced Pluripotent Stem Cell-based Cardiac Tissue Modeling Of Mitogenic Cardiomyopathy In Alstrom Syndrome Duelen, Robin; Ekhteraeitousi, Samaneh; Costamagna, Domiziana; Caluwe, Ellen; Gillijns, Hilde; Jacobs, Johanna; Wu, Ming; Malgrange, Brigitte; Devriendt, Koenraad; Roderick, Llewelyn; Zhang, Jianyi J.; Sampaolesi, Maurilio; Janssens, Stefan Share Save
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles Parijs, Ilse; Brison, Nathalie; Vancoillie, Leen; Baetens, Machteld; Blaumeiser, Bettina; Boulanger, Sebastien; Desir, Julie; Dimitrov, Boyan; Fieremans, Nathalie; Janssens, Katrien; Janssens, Sandra; Marichal, Axel; Menten, Bjorn; Meunier, Colombine; Van Berkel, Kim; Van Den Bogaert, Ann; Devriendt, Koenraad; Van Den Bogaert, Kris; Vermeesch, Joris Robert Share Save
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge Lannoo, Lore; van Straaten, Khaila; Breckpot, Jeroen; Brison, Nathalie; De Catte, Luc; Dimitriadou, Eftychia; Legius, Eric; Peeters, Hilde; Parijs, Ilse; Tsuiko, Olga; Vancoillie, Leen; Vermeesch, Joris Robert; Van Buggenhout, Griet; Van den Bogaert, Kris; Van Calsteren, Kristel; Devriendt, Koenraad Share Save
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group Lumaka, Aime; Carstens, Nadia; Devriendt, Koenraad; Krause, Amanda; Kulohoma, Benard; Kumuthini, Judit; Mubungu, Gerrye; Mukisa, John; Nel, Melissa; Olanrewaju, Timothy O.; Lombard, Zane; Landoure, Guida Share Save
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (vol 17, e1009679, 2021) Audain, Enrique; Wilsdon, Anna; Breckpot, Jeroen; Izarzugaza, Jose M. G.; Fitzgerald, Tomas W.; Kahlert, Anne-Karin; Sifrim, Alejandro; Wunnemann, Florian; Perez-Riverol, Yasset; Abdul-Khaliq, Hashim; Bak, Mads; Bassett, Anne S.; Benson, D. Woodrow; Berger, Felix; Daehnert, Ingo; Devriendt, Koenraad; Dittrich, Sven; Daubeney, Piers E. F.; Garg, Vidu; Hackmann, Karl; Hoff, Kirstin; Hofmann, Philipp; Dombrowsky, Gregor; Pickardt, Thomas; Bauer, Ulrike; Keavney, Bernard D.; Klaassen, Sabine; Kramer, Hans-Heiner; Marshall, Christian R.; Milewicz, Dianna M.; Lemaire, Scott; Coselli, Joseph S.; Mitchell, Michael E.; Tomita-Mitchell, Aoy; Prakash, Siddharth K.; Stamm, Karl; Stewart, Alexandre F. R.; Silversides, Candice K.; Siebert, Reiner; Stiller, Brigitte; Rosenfeld, Jill A.; Vater, Inga; Postma, Alex V.; Caliebe, Almuth; Brook, J. David; Andelfinger, Gregor; Hurles, Matthew E.; Thienpont, Bernard; Larsen, Lars Allan; Hitz, Marc-Phillip Share Save
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening Van den Bogaert, Kris; Lannoo, Lore; Brison, Nathalie; Gatinois, Vincent; Baetens, Machteld; Blaumeiser, Bettina; Boemer, Francois; Bourlard, Laura; Bours, Vincent; De Leener, Anne; De Rademaeker, Marjan; Desir, Julie; Dheedene, Annelies; Duquenne, Armelle; Fieremans, Nathalie; Fieuw, Annelies; Gatot, Jean-Stephane; Grisart, Bernard; Janssens, Katrien; Janssens, Sandra; Lederer, Damien; Marichal, Axel; Menten, Bjorn; Meunier, Colombine; Palmeira, Leonor; Pichon, Bruno; Sammels, Eva; Smits, Guillaume; Sznajer, Yves; Vantroys, Elise; Devriendt, Koenraad; Vermeesch, Joris Robert Share Save
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations van Riel, Margot; Brison, Nathalie; Baetens, Machteld; Blaumeiser, Bettina; Boemer, Francois; Bourlard, Laura; Bulk, Saskia; De Leener, Anne; Desir, Julie; Devriendt, Koenraad; Dheedene, Annelies; Duquenne, Armelle; Fieremans, Nathalie; Fieuw, Annelies; Gatot, Jean-Stephane; Grisart, Bernard; Janssens, Sandra; Khudashvili, Nairi; 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 Share Save
Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies Lenaerts, Liesbeth; Brison, Nathalie; Maggen, Charlotte; Vancoillie, Leen; Che, Huiwen; Vandenberghe, Peter; Dierickx, Daan; Michaux, Lucienne; Dewaele, Barbara; Neven, Patrick; Floris, Giuseppe; Tousseyn, Thomas; Lannoo, Lore; Jatsenko, Tatjana; Vanden Bempt, Isabelle; Van Calsteren, Kristel; Vandecaveye, Vincent; Dehaspe, Luc; Devriendt, Koenraad; Legius, Eric; Van Den Bogaert, Kris; Vermeesch, Joris Robert; Amant, Frederic Share Save
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frederic; Toutain, Annick; Bonnet-Brilhault, Frederique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna K.; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju G.; Chung, Wendy K.; Devriendt, Koenraad; Holder, Susan E.; Jewett, Tamison; Baldwin, Lauren M.; Wilson, William G.; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah F.; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sebastien; Sullivan, Jennifer A.; Shashi, Vandana; Koudijs, Suzanne M.; Heijligers, Malou; Kivuva, Emma; McTague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie L.; Houge, Gunnar; Janssens, Veerle Share Save
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age Peeters, Silke; Declerck, Ken; Thomas, Muriel; Boudin, Eveline; Beckers, Dominique; Chivu, Olimpia; Heinrichs, Claudine; Devriendt, Koenraad; de Zegher, Francis; Van Hul, Wim; Vanden Berghe, Wim; De Schepper, Jean; Rooman, Raoul; Mortier, Geert Share Save
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Mak, Christopher C. Y.; Doherty, Dan; Lin, Angela E.; Vegas, Nancy; Cho, Megan T.; Viot, Geraldine; Dimartino, Clemantine; Weisfeld-Adams, James D.; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A.; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G.; Lee, Youngha; Ishak, Gisele E.; Leung, Gordon; Pritchard, Amanda Barone; Yang, Sandra; Bend, Eric G.; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G.; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J. V.; Henderson, Lindsay B.; McGowan, Ruth; Wentzensen, Ingrid M.; Pei, Steven; Zahir, Farah R.; Yu, Mullin; Gibson, William T.; Seman, Ann; Steeves, Marcie; Murrell, Jill R.; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M.; Amlie-Wolf, Louise; Kaindl, Angela M.; Wilson, William G.; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E. L. M.; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M.; Bamshad, Michael J.; Nickerson, Deborah A.; Reid, Russell R.; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zoe; Bienvenu, Thierry; Tan, Tiong Y.; Orenstein, Naama; Dobyns, William B.; Shieh, Joseph T.; Choi, Murim; Waggoner, Darrel; Gripp, Karen W.; Parker, Michael J.; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valerie; Viskochil, David; Hoffman, Trevor L.; Amiel, Jeanne; Chung, Brian H. Y.; Gordon, Christopher T. Share Save
PEDIA: prioritization of exome data by image analysis Hsieh, Tzung-Chien; Mensah, Martin A.; Pantel, Jean T.; Aguilar, Dione; Bar, Omri; Bayat, Allan; Becerra-Solano, Luis; Bentzen, Heidi B.; Biskup, Saskia; Borisov, Oleg; Braaten, Oivind; Ciaccio, Claudia; Coutelier, Marie; Cremer, Kirsten; Danyel, Magdalena; Daschkey, Svenja; Eden, Hilda David; Devriendt, Koenraad; Wilson, Sandra; Douzgou, Sofia; Dukic, Dejan; Ehmke, Nadja; Fauth, Christine; Fischer-Zirnsak, Bjoern; Fleischer, Nicole; Gabriel, Heinz; Graul-Neumann, Luitgard; Gripp, Karen W.; Gurovich, Yaron; Gusina, Asya; Haddad, Nechama; Hajjir, Nurulhuda; Hanani, Yair; Hertzberg, Jakob; Hoertnagel, Konstanze; Howell, Janelle; Ivanovski, Ivan; Kaindl, Angela; Kamphans, Tom; Kamphausen, Susanne; Karimov, Catherine; Kathom, Hadil; Keryan, Anna; Knaus, Alexej; Koehler, Sebastian; Kornak, Uwe; Lavrov, Alexander; Leitheiser, Maximilian; Lyon, Gholson J.; Mangold, Elisabeth; Marin Reina, Purificacion; Martinez Carrascal, Antonio; Mitter, Diana; Morlan Herrador, Laura; Nadav, Guy; Noethen, Markus; Orrico, Alfredo; Ott, Claus-Eric; Park, Kristen; Peterlin, Borut; Poeisler, Laura; Raas-Rothschild, Annick; Randolph, Linda; Revencu, Nicole; Fagerberg, Christina Ringmann; Robinson, Peter Nick; Rosnev, Stanislav; Rudnik, Sabine; Rudolf, Gorazd; Schatz, Ulrich; Schossig, Anna; Schubach, Max; Shanoon, Or; Sheridan, Eamonn; Smirin-Yosef, Pola; Spielmann, Malte; Suk, Eun-Kyung; Sznajer, Yves; Thiel, Christian T.; Thiel, Gundula; Verloes, Alain; Vrecar, Irena; Wahl, Dagmar; Weber, Ingrid; Winter, Korina; Wisniewska, Marzena; Wollnik, Bernd; Yeung, Ming W.; Zhao, Max; Zhu, Na; Zschocke, Johannes; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M. Share Save
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening Brison, Nathalie; Storms, Jazz; Villela, Darine; Claeys, Kristl G.; Dehaspe, Luc; de Ravel, Thorny; De Waele, Liesbeth; Goemans, Nathalie; Legius, Eric; Peeters, Hilde; Van Esch, Hilde; Race, Valerie; Vermeesch, Joris Robert; Devriendt, Koenraad; Van den Bogaert, Kris Share Save
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aime; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amalia; Vogt, Julie; de Munnik, Sonja A.; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Goncalves, Ana R.; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L.; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Sacoto, Maria J. Guillen; Douglas, Ganka; Alexander, Nora; Buckley, Michael F.; Mark, Paul R.; Ades, Lesley C.; Sandaradura, Sarah A.; Lupski, James R.; Roscioli, Tony; Agrawal, Pankaj B.; Kline, Antonie D.; Wang, Kai; Timmers, H. T. Marc; Lyon, Gholson J. Share Save
Arterial tortuosity syndrome: 40 new families and literature review (vol 20, pg 1236, 2017) Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul J.; Cousin, Margot A.; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; Devriendt, Koenraad; De Wandele, Inge; Deyle, David R.; Dietz, Harry; Dupuis-Girod, Sophie; Fontenot, Eudice; Fischer-Zirnsak, Bjoern; Gezdirici, Alper; Ghoumid, Jamal; Giuliano, Fabienne; Baena, Neus; Haider, Mohammed Z.; Hardin, Joshua S.; Jeunemaitre, Xavier; Klee, Eric W.; Kornak, Uwe; Landecho, Manuel F.; Legrand, Anne; Loeys, Bart; Lyonnet, Stanislas; Michael, Helen; Moceri, Pamela; Mohammed, Shehla; Muino-Mosquera, Laura; Nampoothiri, Sheela; Pichler, Karin; Prescott, Katrina; Rajeb, Anna; Ramos-Arroyo, Maria; Rossi, Massimiliano; Salih, Mustafa; Seidahmed, Mohammed Z.; Schaefer, Elise; Steichen-Gersdorf, Elisabeth; Temel, Sehime; Uysal, Fahrettin; Vanhomwegen, Marine; Van Laer, Lut; Van Maldergem, Lionel; Warner, David; Willaert, Andy; Collins, Tom R., II; Taylor, Andrea; Davis, Elaine C.; Zarate, Yuri; Callewaert, Bert Share Save
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