Educational paper: Connective tissue disorders with vascular involvement: from gene to therapy

por Van Laer, Lut, Proost, Dorien, Loeys, Bart L.
Publicado 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 2014

pBRIT: gene prioritization by correlating functional and phenotypic annotations through integrative data fusion

por Kumar, Ajay Anand, Van Laer, Lut, Alaerts, Maaike, Ardeshirdavani, Amin, Moreau, Yves, Laukens, Kris, Loeys, Bart, Vandeweyer, Geert
Publicado 2018

varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data

por Kumar, Ajay Anand, Loeys, Bart, Van De Beek, Gerarda, Peeters, Nils, Wuyts, Wim, Van Laer, Lut, Vandeweyer, Geert, Alaerts, Maaike
Publicado 2022

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

por Cannaerts, Elyssa, Shukla, Anju, Hasanhodzic, Mensuda, Alaerts, Maaike, Schepers, Dorien, Van Laer, Lut, Girisha, Katta M., Hojsak, Iva, Loeys, Bart, Verstraeten, Aline
Publicado 2018

Host genetic factors associated to proviral load in Peruvian HTLV-1 infected

por Talledo, Michael, López1, Giovanni, Huyghe, Jeroen R, Verdonck, Kristien, González, Elsa, Tipismana, Martin, Clark, Daniel, Vanham, Guido, Gotuzzo, Eduardo, Van Camp, Guy, Van Laer, Lut
Publicado 2011

HLA-G 14 bp insertion/deletion polymorphism is not associated to proviral load levels and presence of HAM/TSP in Peruvian HTLV-1 infected individuals

por Morales, Sandra, Rosado, Jason, López1, Giovanni, Huyghe, Jeroen, Verdonck, Kristien, González, Elsa, Tipismana, Martin, Clark, Daniel, Vanham, Guido, Gotuzzo, Eduardo, Van Camp, Guy, Van laer, Lut, Talledo, Michael
Publicado 2011

Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier

por Perik, Melanie H. A. M., Govaerts, Emmanuela, Laga, Steven, Goovaerts, Inge, Saenen, Johan, Van Craenenbroeck, Emeline, Meester, Josephina A. N., Luyckx, Ilse, Rodrigus, Inez, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Publicado 2023

Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy

por Boen, Hanne M., Loeys, Bart L., Alaerts, Maaike, Saenen, Johan B., Goovaerts, Inge, Van Laer, Lut, Vorlat, Anne, Vermeulen, Tom, Franssen, Constantijn, Pauwels, Patrick, Rodrigus, Inez, Heidbuchel, Hein, Van Craenenbroeck, Emeline M
Publicado 2022

Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report

por Nijak, Aleksandra, Labro, Alain J., De Wilde, Hans, Dewals, Wendy, Peigneur, Steve, Tytgat, Jan, Snyders, Dirk, Sieliwonczyk, Ewa, Simons, Eline, Van Craenenbroeck, Emeline, Schepers, Dorien, Van Laer, Lut, Saenen, Johan, Loeys, Bart, Alaerts, Maaike
Publicado 2020

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

por Sieliwonczyk, Ewa, Alaerts, Maaike, Simons, Eline, Snyders, Dirk, Nijak, Aleksandra, Vandendriessche, Bert, Schepers, Dorien, Akdeniz, Dogan, Van Craenenbroeck, Emeline, Knaepen, Katleen, Rabaut, Laura, Heidbuchel, Hein, Van Laer, Lut, Saenen, Johan, Labro, Alain J., Loeys, Bart
Publicado 2023

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants

por Rodrigues Bento, Jotte, Krebsová, Alice, Van Gucht, Ilse, Valdivia Callejon, Irene, Van Berendoncks, An, Votypka, Pavel, Luyckx, Ilse, Peldova, Petra, Laga, Steven, Havelka, Marek, Van Laer, Lut, Trunecka, Pavel, Boeckx, Nele, Verstraeten, Aline, Macek, Milan, Meester, Josephina A. N., Loeys, Bart
Publicado 2022

Cardiogeneticsbank@UZA: A Collection of DNA, Tissues, and Cell Lines as a Translational Tool

por Alaerts, Maaike, van de Beek, Gerarda, Luyckx, Ilse, Meester, Josephina, Schepers, Dorien, Verstraeten, Aline, Saenen, Johan, Van Craenenbroeck, Emeline, Goovaerts, Inge, Rodrigus, Inez, Laga, Steven, Hendriks, Jeroen, Goethals, Sofie, De Wilde, Annemieke, Smits, Elke, Jorens, Philippe, Huizing, Manon, Van Laer, Lut, Loeys, Bart
Publicado 2019

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

por Lantoine, Joséphine, Brysse, Anne, Dideberg, Vinciane, Claes, Kathleen, Symoens, Sofie, Coucke, Wim, Benoit, Valérie, Rombout, Sonia, De Rycke, Martine, Seneca, Sara, Van Laer, Lut, Wuyts, Wim, Corveleyn, Anniek, Van Den Bogaert, Kris, Rydlewski, Catherine, Wilkin, Françoise, Ravoet, Marie, Fastré, Elodie, Capron, Arnaud, Vandevelde, Nathalie Monique
Publicado 2021

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

por Van Gucht, Ilse, Krebsova, Alice, Diness, Birgitte Rode, Laga, Steven, Adlam, Dave, Kempers, Marlies, Samani, Nilesh J., Webb, Tom R., Baranowska, Ania A., Van Den Heuvel, Lotte, Perik, Melanie, Luyckx, Ilse, Peeters, Nils, Votypka, Pavel, Macek, Milan, Meester, Josephina, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart L.
Publicado 2021

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

por Nayak, Shalini S., Schneeberger, Pauline E., Patil, Siddaramappa J., Arun, Karegowda M., Suresh, Pujar V., Kiran, Viralam S., Siddaiah, Sateesh, Maiya, Shreesha, Venkatachalagupta, Shrikanth K., Kausthubham, Neethukrishna, Kortüm, Fanny, Rau, Isabella, Wey-Fabrizius, Alexandra, Van Den Heuvel, Lotte, Meester, Josephina, Van Laer, Lut, Shukla, Anju, Loeys, Bart, Girisha, Katta M., Kutsche, Kerstin
Publicado 2021

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

por Kishita, Yoshihito, Pajak, Aleksandra, Bolar, Nikhita Ajit, Marobbio, Carlo M.T., Maffezzini, Camilla, Miniero, Daniela V., Monné, Magnus, Kohda, Masakazu, Stranneheim, Henrik, Murayama, Kei, Naess, Karin, Lesko, Nicole, Bruhn, Helene, Mourier, Arnaud, Wibom, Rolf, Nennesmo, Inger, Jespers, Ann, Govaert, Paul, Ohtake, Akira, Van Laer, Lut, Loeys, Bart L., Freyer, Christoph, Palmieri, Ferdinando, Wredenberg, Anna, Okazaki, Yasushi, Wedell, Anna
Publicado 2015

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 2017

Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm

por Doyle, Alexander J., Doyle, Jefferson J., Bessling, Seneca L., Maragh, Samantha, Lindsay, Mark E., Schepers, Dorien, Gillis, Elisabeth, Mortier, Geert, Homfray, Tessa, Sauls, Kimberly, Norris, Russell A., Huso, Nicholas D., Leahy, Dan, Mohr, David W., Caulfield, Mark J., Scott, Alan F., Destrée, Anne, Hennekam, Raoul C., Arn, Pamela H., Curry, Cynthia J., Van Laer, Lut, McCallion, Andrew S., Loeys, Bart L., Dietz, Harry C.
Publicado 2012

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort

por Meester, Josephina A.N., Peeters, Silke, Van Den Heuvel, Lotte, Vandeweyer, Geert, Fransen, Erik, Cappella, Elizabeth, Dietz, Harry C., Forbus, Geoffrey, Gelb, Bruce D., Goldmuntz, Elizabeth, Hoskoppal, Arvind, Landstrom, Andrew P., Lee, Teresa, Mital, Seema, Morris, Shaine, Olson, Aaron K., Renard, Marjolijn, Roden, Dan M., Singh, Michael N., Selamet Tierney, Elif Seda, Tretter, Justin T., Van Driest, Sara L., Willing, Marcia, Verstraeten, Aline, Van Laer, Lut, Lacro, Ronald V., Loeys, Bart L.
Publicado 2022