Zebrafish Models for Ectopic Mineralization Disorders: Practical Issues from Morpholino Design to Post-Injection Observations

by Hosen, Mohammad Jakir, Vanakker, Olivier M., Willaert, Andy, Huysseune, Ann, Coucke, Paul, De Paepe, Anne
Published 2013

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum

by Hosen, Mohammad J, Coucke, Paul J, Le Saux, Olivier, De Paepe, Anne, Vanakker, Olivier M
Published 2014

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

by Syx, Delfien, Symoens, Sofie, Steyaert, Wouter, De Paepe, Anne, Coucke, Paul J., Malfait, Fransiska
Published 2015

Illumina sequencing of 15 deafness genes using fragmented amplicons

by Van Nieuwerburgh, Filip, De Keulenaer, Sarah, De Schrijver, Joachim, Vandesompele, Jo, Van Criekinge, Wim, Coucke, Paul J, Deforce, Dieter
Published 2014

Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

by Campens, Laurence, Callewaert, Bert, Muiño Mosquera, Laura, Renard, Marjolijn, Symoens, Sofie, De Paepe, Anne, Coucke, Paul, De Backer, Julie
Published 2015

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

by Boel, Annekatrien, Steyaert, Woutert, De Rocker, Nina, Menten, Björn, Callewaert, Bert, De Paepe, Anne, Coucke, Paul, Willaert, Andy
Published 2016

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

by Symoens, Sofie, Malfait, Fransiska, D’hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans Peter, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul J
Published 2013

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical deter...

by Kappanayil, Mahesh, Nampoothiri, Sheela, Kannan, Rajesh, Renard, Marjolijn, Coucke, Paul, Malfait, Fransiska, Menon, Swapna, Ravindran, Hiran K, Kurup, Renu, Faiyaz-Ul-Haque, Muhammad, Kumar, Krishna, De Paepe, Anne
Published 2012

Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum

by Hosen, Mohammad J, Van Nieuwerburgh, Filip, Steyaert, Wouter, Deforce, Dieter, Martin, Ludovic, Leftheriotis, Georges, De Paepe, Anne, Coucke, Paul J, Vanakker, Olivier M
Published 2015

Expressed Repeat Elements Improve RT-qPCR Normalization across a Wide Range of Zebrafish Gene Expression Studies

by Vanhauwaert, Suzanne, Van Peer, Gert, Rihani, Ali, Janssens, Els, Rondou, Pieter, Lefever, Steve, De Paepe, Anne, Coucke, Paul J., Speleman, Frank, Vandesompele, Jo, Willaert, Andy
Published 2014

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

by Swinnen, Freya KR, Coucke, Paul J, De Paepe, Anne M, Symoens, Sofie, Malfait, Fransiska, Gentile, Filomena V, Sangiorgi, Luca, D'Eufemia, Patrizia, Celli, Mauro, Garretsen, Ton JTM, Cremers, Cor WRJ, Dhooge, Ingeborg JM, De Leenheer, Els MR
Published 2011

Practical Tools to Implement Massive Parallel Pyrosequencing of PCR Products in Next Generation Molecular Diagnostics

by De Leeneer, Kim, De Schrijver, Joachim, Clement, Lieven, Baetens, Machteld, Lefever, Steve, De Keulenaer, Sarah, Van Criekinge, Wim, Deforce, Dieter, Van Nieuwerburgh, Filip, Bekaert, Sofie, Pattyn, Filip, De Wilde, Bram, Coucke, Paul, Vandesompele, Jo, Claes, Kathleen, Hellemans, Jan
Published 2011

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

by Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, Backer, Julie De, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine
Published 2013

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

by De Keulenaer, Sarah, Hellemans, Jan, Lefever, Steve, Renard, Jean-Pierre, De Schrijver, Joachim, Van de Voorde, Hendrik, Tabatabaiefar, Mohammad Amin, Van Nieuwerburgh, Filip, Flamez, Daisy, Pattyn, Filip, Scharlaken, Bieke, Deforce, Dieter, Bekaert, Sofie, Van Criekinge, Wim, Vandesompele, Jo, Van Camp, Guy, Coucke, Paul
Published 2012

Absence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model

by Renard, Marjolijn, Trachet, Bram, Casteleyn, Christophe, Campens, Laurence, Cornillie, Pieter, Callewaert, Bert, Deleye, Steven, Vandeghinste, Bert, van Heijningen, Paula M., Dietz, Harry, De Vos, Filip, Essers, Jeroen, Staelens, Steven, Segers, Patrick, Loeys, Bart, Coucke, Paul, De Paepe, Anne, De Backer, Julie
Published 2014

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

by Shah, Khadim, Ali, Raja Hussain, Ansar, Muhammad, Lee, Kwanghyuk, Chishti, Muhammad Salman, Abbe, Izoduwa, Li, Biao, Smith, Joshua D., Nickerson, Deborah A., Shendure, Jay, Coucke, Paul J., Steyaert, Wouter, Bamshad, Michael J., Santos-Cortez, Regie Lyn P., Leal, Suzanne M., Ahmad, Wasim
Published 2016

Comparison of Methods for In-House Screening of HLA-B*57:01 to Prevent Abacavir Hypersensitivity in HIV-1 Care

by De Spiegelaere, Ward, Philippé, Jan, Vervisch, Karen, Verhofstede, Chris, Malatinkova, Eva, Kiselinova, Maja, Trypsteen, Wim, Bonczkowski, Pawel, Vogelaers, Dirk, Callens, Steven, Ruelle, Jean, Kabeya, Kabamba, De Wit, Stephane, Van Acker, Petra, Van Sandt, Vicky, Emonds, Marie-Paule, Coucke, Paul, Sermijn, Erica, Vandekerckhove, Linos
Published 2015