Distinct disorders affecting the brain share common genetic origins

Por Kooy, R Frank
Publicado em 2010

Targeting fragile X

Por Gantois, Ilse, Kooy, R Frank
Publicado em 2002

Metabonomics adds a new dimension to fragile X syndrome

Por Heulens, Inge, Braat, Sien, Kooy, R Frank
Publicado em 2011

On the spot: very local chromosomal rearrangements

Por Helsmoortel, Céline, Vandeweyer, Geert, Kooy, R. Frank
Publicado em 2012

A Robust Protocol to Increase NimbleGen SeqCap EZ Multiplexing Capacity to 96 Samples

Por van der Werf, Ilse M., Kooy, R. Frank, Vandeweyer, Geert
Publicado no PLoS One (2015)

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

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

Por Vandeweyer, Geert, Van Laer, Lut, Loeys, Bart, Van den Bulcke, Tim, Kooy, R Frank
Publicado em 2014

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

Por Winnepenninckx, Birgitta , Debacker, Kim , Ramsay, Jacqueline , Smeets, Dominique , Smits, Arie , FitzPatrick, David R. , Kooy, R. Frank 
Publicado em 2007

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

FRA18C: a new aphidicolin‐inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage

Por Debacker, Kim, Winnepenninckx, Birgitta, Ben‐Porat, Neta, FitzPatrick, David, Van Luijk, Rob, Scheers, Stefaan, Kerem, Batsheva, Kooy, R Frank
Publicado em 2007

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings

Por Gozes, Illana, Patterson, Marc C., Van Dijck, Anke, Kooy, R. Frank, Peeden, Joseph N., Eichenberger, Jacob A., Zawacki-Downing, Angela, Bedrosian-Sermone, Sandra
Publicado no Front Endocrinol (Lausanne) (2017)

The GABA(A) receptor is an FMRP target with therapeutic potential in fragile X syndrome

Por Braat, Sien, D'Hulst, Charlotte, Heulens, Inge, De Rubeis, Silvia, Mientjes, Edwin, Nelson, David L, Willemsen, Rob, Bagni, Claudia, Van Dam, Debby, De Deyn, Peter P, Kooy, R Frank
Publicado no Cell Cycle (2015)

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)

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome

Por Ligsay, Andrew, Van Dijck, Anke, Nguyen, Danh V., Lozano, Reymundo, Chen, Yanjun, Bickel, Erika S., Hessl, David, Schneider, Andrea, Angkustsiri, Kathleen, Tassone, Flora, Ceulemans, Berten, Kooy, R. Frank, Hagerman, Randi J.
Publicado no J Neurodev Disord (2017)

Positron Emission Tomography (PET) Quantification of GABA(A) Receptors in the Brain of Fragile X Patients

Por D’Hulst, Charlotte, Heulens, Inge, Van der Aa, Nathalie, Goffin, Karolien, Koole, Michel, Porke, Kathleen, Van De Velde, Marc, Rooms, Liesbeth, Van Paesschen, Wim, Van Esch, Hilde, Van Laere, Koen, Kooy, R. Frank
Publicado no PLoS One (2015)

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

The Transcriptional Regulator ADNP Links the BAF (SWI/SNF) Complexes With Autism

Por Vandeweyer, Geert, Helsmoortel, Céline, Van Dijck, Anke, Silfhout, Anneke T. Vulto-van, Coe, Bradley P., Bernier, Raphael, Gerdts, Jennifer, Rooms, Liesbeth, Bakshi, Madhura, van den Ende, Jenneke, Wilson, Meredith, Nordgren, Ann, Hendon, Laura G., Abdulrahman, Omar A., Romano, Corrado, de Vries, Bert B.A., Kleefstra, Tjitske, Eichler, Evan E., Van der Aa, Nathalie, Kooy, R. Frank
Publicado em 2014

A SWI/SNF related autism syndrome caused by de novo mutations in ADNP

Por Helsmoortel, Céline, Vulto-van Silfhout, Anneke T., Coe, Bradley P., Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H.M., Marcelis, Carlo L., Willemsen, Marjolein H., Vissers, Lisenka E.L.M., Yntema, Helger G., Bakshi, Madhura, Wilson, Meredith, Witherspoon, Kali T, Malmgren, Helena, Nordgren, Ann, Annerén, Göran, Fichera, Marco, Bosco, Paolo, Romano, Corrado, de Vries, Bert B.A., Kleefstra, Tjitske, Kooy, R. Frank, Eichler, Evan E., Van der Aa, Nathalie
Publicado em 2014