CNV-WebStore: Online CNV Analysis, Storage and Interpretation

Por Vandeweyer, Geert, Reyniers, Edwin, Wuyts, Wim, Rooms, Liesbeth, Kooy, R Frank
Publicado em 2011

The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome

Por Vandeweyer, Geert, Van der Aa, Nathalie, Reyniers, Edwin, Kooy, R. Frank
Publicado em 2012

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome

Por Jensen, Matthew, Kooy, R. Frank, Simon, Tony J., Reyniers, Edwin, Girirajan, Santhosh, Tassone, Flora
Publicado no Eur J Med Genet (2017)

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11

Por Reyniers, Edwin, Van Bogaert, Patrick, Peeters, Nils, Vits, Lieve, Pauly, Fernand, Fransen, Erik, Van Regemorter, Nicole, Kooy, R. Frank
Publicado em 1999

The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior

Por Lenski, Claus , Frank Kooy, R. , Reyniers, Edwin , Loessner, Daniela , Wanders, Ronald J. A. , Winnepenninckx, Birgitta , Hellebrand, Heide , Engert, Stefanie , Schwartz, Charles E. , Meindl, Alfons , Ramser, Juliane 
Publicado em 2007

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

Por van der Werf, Ilse M, Buiting, Karin, Czeschik, Christina, Reyniers, Edwin, Vandeweyer, Geert, Vanhaesebrouck, Piet, Lüdecke, Hermann-Josef, Wieczorek, Dagmar, Horsthemke, Bernhard, Mortier, Geert, Leroy, Jules G, Kooy, R Frank
Publicado no Eur J Hum Genet (2016)

Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)

Por Holinski-Feder, Elke, Reyniers, Edwin, Uhrig, Sabine, Golla, Astrid, Wauters, Jan, Kroisel, Peter, Bossuyt, Paul, Rost, Imma, Jedele, Kerry, Zierler, Hannelore, Schwab, Sieglinde, Wildenauer, Dieter, Speicher, Michael R., Willems, Patrick J., Meitinger, Thomas, Kooy, R. Frank
Publicado em 2000

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

Por Metsu, Sofie, Rooms, Liesbeth, Rainger, Jacqueline, Taylor, Martin S., Bengani, Hemant, Wilson, David I., Chilamakuri, Chandra Sekhar Reddy, Morrison, Harris, Vandeweyer, Geert, Reyniers, Edwin, Douglas, Evelyn, Thompson, Geoffrey, Haan, Eric, Gecz, Jozef, FitzPatrick, David R., Kooy, R. Frank
Publicado em 2014

Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11

Por Wuyts, Wim, Ramlakhan, Sarvan, Van Hul, Wim, Hecht, Jacqueline T., van den Ouweland, Ans M. W., Raskind, Wendy H., Hofstede, Floris C., Reyniers, Edwin, Wells, Dan E., de Vries, Bert, Conrad, Ernest U., Hill, April, Zalatayev, Dmitry, Weissenbach, Jean, Wagner, Michael J., Bakker, Egbert, Halley, Dicky J. J., Willems, Patrick J.
Publicado em 1995

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene

Por Luyckx, Ilse, Kumar, Ajay A., Reyniers, Edwin, Dekeyser, Emily, Vanderstraeten, Kathleen, Vandeweyer, Geert, Wünnemann, Florian, Preuss, Christoph, Mazzella, Jean-Michaël, Goudot, Guillaume, Messas, Emmanuel, Albuisson, Juliette, Jeunemaitre, Xavier, Eriksson, Per, Mohamed, Salah A., Kempers, Marlies, Salemink, Simone, Duijnhouwer, Anthonie, Andelfinger, Gregor, Dietz, Harry C, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Publicado no Eur J Hum Genet (2019)

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Por Meester, Josephina A.N., Vandeweyer, Geert, Pintelon, Isabel, Lammens, Martin, Van Hoorick, Lana, De Belder, Simon, Waitzman, Kathryn, Young, Luciana, Markham, Larry W., Vogt, Julie, Richer, Julie, Beauchesne, Luc M., Unger, Sheila, Superti-Furga, Andrea, Prsa, Milan, Dhillon, Rami, Reyniers, Edwin, Dietz, Harry C., Wuyts, Wim, Mortier, Geert, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Publicado no Genet Med (2017)

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Por El Chehadeh, Salima, Kerstjens-Frederikse, Wilhelmina S, Thevenon, Julien, Kuentz, Paul, Bruel, Ange-Line, Thauvin-Robinet, Christel, Bensignor, Candace, Dollfus, Hélène, Laugel, Vincent, Rivière, Jean-Baptiste, Duffourd, Yannis, Bonnet, Caroline, Robert, Matthieu P, Isaiko, Rodica, Straub, Morgane, Creuzot-Garcher, Catherine, Calvas, Patrick, Chassaing, Nicolas, Loeys, Bart, Reyniers, Edwin, Vandeweyer, Geert, Kooy, Frank, Hančárová, Miroslava, Havlovicová, Marketa, Prchalová, Darina, Sedláček, Zdenek, Gilissen, Christian, Pfundt, Rolph, Wassink-Ruiter, Jolien S Klein, Faivre, Laurence
Publicado no Eur J Hum Genet (2017)