Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting

by Lumaka, Aimé, Lukoo, Rita, Mubungu, Gerrye, Lumbala, Paul, Mbayabo, Gloire, Mupuala, Aimée, Tshilobo, Prosper Lukusa, Devriendt, Koenraad
Published 2016

Platelet studies in autism spectrum disorder patients and first-degree relatives

by Bijl, Nora, Thys, Chantal, Wittevrongel, Christine, De la Marche, Wouter, Devriendt, Koenraad, Peeters, Hilde, Van Geet, Chris, Freson, Kathleen
Published 2015

Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa

by Mbuyi-Musanzayi, Sébastien, Lumaka, Aimé, Yogolelo Asani, Bienvenu, Lubala Kasole, Toni, Lukusa Tshilobo, Prosper, Kalenga Muenze, Prosper, Tshilombo Katombe, François, Devriendt, Koenraad
Published 2014

Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability

by Mubungu, Gerrye, Lumaka, Aimé, Matondo, Rosette, Mbayabo, Gloire, Tuka, Deborah, Kayembe, Claudarche, Mulowhe, Didier, Molua, Antoine, Tady, Bruno-Paul, Nkidiaka, Emmanuel, Bunga, Paulo, Lukusa Tshilobo, Prosper, Devriendt, Koenraad
Published 2014

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

by Mbuyi-Musanzayi, Sébastien, Lubala Kasole, Toni, Lumaka, Aimé, Kayembe Kitenge, Tony, Kabamba Ngombe, Leon, Kalenga Muenze, Prosper, Lukusa Tshilobo, Prosper, Tshilombo Katombe, François, Banza Lubaba Nkulu, Célestin, Devriendt, Koenraad
Published 2014

A catalog of hemizygous variation in 127 22q11 deletion patients

by Hestand, Matthew S, Nowakowska, Beata A, Vergaelen, Elfi, Van Houdt, Jeroen, Dehaspe, Luc, Suhl, Joshua A, Del-Favero, Jurgen, Mortier, Geert, Zackai, Elaine, Swillen, Ann, Devriendt, Koenraad, Gur, Raquel E, McDonald-McGinn, Donna M, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R
Published 2016

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

by Lu, Weining, Quintero-Rivera, Fabiola, Fan, Yanli, Alkuraya, Fowzan S, Donovan, Diana J, Xi, Qiongchao, Turbe-Doan, Annick, Li, Qing-Gang, Campbell, Craig G, Shanske, Alan L, Sherr, Elliott H, Ahmad, Ayesha, Peters, Roxana, Rilliet, Benedict, Parvex, Paloma, Bassuk, Alexander G, Harris, David J, Ferguson, Heather, Kelly, Chantal, Walsh, Christopher A, Gronostajski, Richard M, Devriendt, Koenraad, Higgins, Anne, Ligon, Azra H, Quade, Bradley J, Morton, Cynthia C, Gusella, James F, Maas, Richard L
Published 2007

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

by Soemedi, Rachel, Topf, Ana, Wilson, Ian J., Darlay, Rebecca, Rahman, Thahira, Glen, Elise, Hall, Darroch, Huang, Ni, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J. David, Granados-Riveron, Javier, Setchfield, Kerry, Bu'Lock, Frances, Thornborough, Chris, Devriendt, Koenraad, Breckpot, Jeroen, Hofbeck, Michael, Lathrop, Mark, Rauch, Anita, Blue, Gillian M., Winlaw, David S., Hurles, Matthew, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.
Published 2012

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

by Uddin, Mohammed, Pellecchia, Giovanna, Thiruvahindrapuram, Bhooma, D’Abate, Lia, Merico, Daniele, Chan, Ada, Zarrei, Mehdi, Tammimies, Kristiina, Walker, Susan, Gazzellone, Matthew J., Nalpathamkalam, Thomas, Yuen, Ryan K. C., Devriendt, Koenraad, Mathonnet, Géraldine, Lemyre, Emmanuelle, Nizard, Sonia, Shago, Mary, Joseph-George, Ann M., Noor, Abdul, Carter, Melissa T., Yoon, Grace, Kannu, Peter, Tihy, Frédérique, Thorland, Erik C., Marshall, Christian R., Buchanan, Janet A., Speevak, Marsha, Stavropoulos, Dimitri J., Scherer, Stephen W.
Published 2016

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

by Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E.L.M., Schraders, Margit, Altunoglu, Umut, Buckley, Michael F., Brunner, Han G., Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A., Gilissen, Christian, Mancini, Grazia M.S., Delrée, Paul, Willemsen, Michèl A., Ramadža, Danijela Petković, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A.J., Tan-Sindhunata, Gita M.B., de Die-Smulders, Christine E., Devriendt, Koenraad, Kayserili, Hülya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L., Lefeber, Dirk J., Lin, Yung-Yao, van Bokhoven, Hans
Published 2012

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

by Schmidts, Miriam, Arts, Heleen H, Bongers, Ernie M H F, Yap, Zhimin, Oud, Machteld M, Antony, Dinu, Duijkers, Lonneke, Emes, Richard D, Stalker, Jim, Yntema, Jan-Bart L, Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A, Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elçioğlu, Nursel, van Maarle, Merel C, Graul-Neumann, Luitgard M, Devriendt, Koenraad, Smithson, Sarah F, Wellesley, Diana, Verbeek, Nienke E, Hennekam, Raoul C M, Kayserili, Hulya, Scambler, Peter J, Beales, Philip L, Knoers, Nine VAM, Roepman, Ronald, Mitchison, Hannah M
Published 2013

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

by Mirzaa, Ghayda, Timms, Andrew E., Conti, Valerio, Boyle, Evan August, Girisha, Katta M., Martin, Beth, Kircher, Martin, Olds, Carissa, Juusola, Jane, Collins, Sarah, Park, Kaylee, Carter, Melissa, Glass, Ian, Krägeloh-Mann, Inge, Chitayat, David, Parikh, Aditi Shah, Bradshaw, Rachael, Torti, Erin, Braddock, Stephen, Burke, Leah, Ghedia, Sondhya, Stephan, Mark, Stewart, Fiona, Prasad, Chitra, Napier, Melanie, Saitta, Sulagna, Straussberg, Rachel, Gabbett, Michael, O’Connor, Bridget C., Keegan, Catherine E., Yin, Lim Jiin, Lai, Angeline Hwei Meeng, Martin, Nicole, McKinnon, Margaret, Addor, Marie-Claude, Boccuto, Luigi, Schwartz, Charles E., Lanoel, Agustina, Conway, Robert L., Devriendt, Koenraad, Tatton-Brown, Katrina, Pierpont, Mary Ella, Painter, Michael, Worgan, Lisa, Reggin, James, Hennekam, Raoul, Tsuchiya, Karen, Pritchard, Colin C., Aracena, Mariana, Gripp, Karen W., Cordisco, Maria, Van Esch, Hilde, Garavelli, Livia, Curry, Cynthia, Goriely, Anne, Kayserilli, Hulya, Shendure, Jay, Graham, John, Guerrini, Renzo, Dobyns, William B.
Published 2016

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

by Bertoli-Avella, Aida M., Gillis, Elisabeth, Morisaki, Hiroko, Verhagen, Judith M.A., de Graaf, Bianca M., van de Beek, Gerarda, Gallo, Elena, Kruithof, Boudewijn P.T., Venselaar, Hanka, Myers, Loretha A., Laga, Steven, Doyle, Alexander J., Oswald, Gretchen, van Cappellen, Gert W.A., Yamanaka, Itaru, van der Helm, Robert M., Beverloo, Berna, de Klein, Annelies, Pardo, Luba, Lammens, Martin, Evers, Christina, Devriendt, Koenraad, Dumoulein, Michiel, Timmermans, Janneke, Bruggenwirth, Hennie T., Verheijen, Frans, Rodrigus, Inez, Baynam, Gareth, Kempers, Marlies, Saenen, Johan, Van Craenenbroeck, Emeline M., Minatoya, Kenji, Matsukawa, Ritsu, Tsukube, Takuro, Kubo, Noriaki, Hofstra, Robert, Goumans, Marie Jose, Bekkers, Jos A., Roos-Hesselink, Jolien W., van de Laar, Ingrid M.B.H., Dietz, Harry C., Van Laer, Lut, Morisaki, Takayuki, Wessels, Marja W., Loeys, Bart L.
Published 2015

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

by Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Turki, Saeed H Al, Thienpont, Bernard, McRae, Jeremy, Fitzgerald, Tomas W, Singh, Tarjinder, Swaminathan, Ganesh Jawahar, Prigmore, Elena, Rajan, Diana, Abdul-Khaliq, Hashim, Banka, Siddharth, Bauer, Ulrike M.M., Bentham, Jamie, Berger, Felix, Bhattacharya, Shoumo, Bu'Lock, Frances A., Canham, Natalie, Colgiu, Irina-Gabriela, Cosgrove, Catherine, Cox, Helen, Daehnert, Ingo, Daly, Allan, Danesh, John, Fryer, Alan, Gewillig, Marc, Hobson, Emma, Hoff, Kirstin, Homfray, Tessa, Kahlert, Anne-Karin, Ketley, Ami, Kramer, Hans-Heiner, Lachlan, Katherine, Lampe, Anne Katrin, Louw, Jacoba J., Manickara, Ashok Kumar, Manase, Dorin, McCarthy, Karen P., Metcalfe, Kay, Moore, Carmel, Newbury-Ecob, Ruth, Omer, Seham Osman, Ouwehand, Willem H., Park, Soo-Mi, Parker, Michael J., Pickardt, Thomas, Pollard, Martin O., Robert, Leema, Roberts, David J., Sambrook, Jennifer, Setchfield, Kerry, Stiller, Brigitte, Thornborough, Christopher, Toka, Okan, Watkins, Hugh, Williams, Denise, Wright, Michael, Mital, Seema, Daubeney, Piers E.F., Keavney, Bernard, Goodship, Judith, Abu-Sulaiman, Riyadh Mahdi, Klaassen, Sabine, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Devriendt, Koenraad, FitzPatrick, David R., Brook, J. David, Hurles, Matthew E.
Published 2016