CNV-WebStore: Online CNV Analysis, Storage and Interpretation

Autor Vandeweyer, Geert, Reyniers, Edwin, Wuyts, Wim, Rooms, Liesbeth, Kooy, R Frank
Vydáno 2011

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

Autor Vandeweyer, Geert, Van der Aa, Nathalie, Reyniers, Edwin, Kooy, R. Frank
Vydáno 2012

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

Autor Jensen, Matthew, Kooy, R. Frank, Simon, Tony J., Reyniers, Edwin, Girirajan, Santhosh, Tassone, Flora
Vydáno v Eur J Med Genet (2017)

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

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

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example

Autor Beysen, Diane, De Cordt, Chania, Dielman, Charlotte, Ogunjimi, Benson, Dandelooy, Julie, Reyniers, Edwin, Janssens, Katrien, Meuwissen, Marije M.E.
Vydáno v Front Neurol (2021)

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

Autor 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 
Vydáno 2007

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

Autor 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
Vydáno v Eur J Hum Genet (2016)

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

Autor 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
Vydáno 2000

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

Autor 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
Vydáno 2014

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

Autor 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.
Vydáno 1995

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

Autor 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.
Vydáno v 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

Autor 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.
Vydáno v Genet Med (2017)

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

Autor 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
Vydáno v Eur J Hum Genet (2017)