Identification of skeletal deformities towards deep phenotyping of zebrafish (Danio rerio) connective tissue disease models by Caitlin Debaene, Adelbert De Clercq, Andy Willaert, Paul Coucke

Get full text

Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixtu... by Eva Y. G. De Vilder, Eva Y. G. De Vilder, Eva Y. G. De Vilder, Ludovic Martin, Georges Lefthériotis, Paul Coucke, Paul Coucke, Filip Van Nieuwerburgh, Olivier M. Vanakker, Olivier M. Vanakker

Get full text

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control... by Jeffrey Aalders, Laurens Léger, Anthony Demolder, Laura Muiño Mosquera, Paul Coucke, Björn Menten, Julie De Backer, Jolanda van Hengel

Get full text

A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation by Lotte J.F. Van Den Heuvel, Silke Peeters, Josephina A.N. Meester, Melanie Perik, Paul Coucke, Bart L. Loeys

Get full text

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures. by Lore Pottie, Wouter Van Gool, Michiel Vanhooydonck, Franz-Georg Hanisch, Geert Goeminne, Andreja Rajkovic, Paul Coucke, Patrick Sips, Bert Callewaert

Get full text

Lrp5 mutant and crispant zebrafish faithfully model human osteoporosis, establishing the zebrafish as a platform for CRISPR-based functional screening of osteoporosis candidate gen... by Jan Willem Bek, Chen Shochat, Adelbert De Clercq, Hanna De Saffel, Annekatrien Boel, Juriaan Metz, Frans Rodenburg, David Karasik, Andy Willaert, Paul Coucke

Get full text

Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic contr... by Laurens Léger, Jeffrey Aalders, Nina Heymans, Kiara Van Acker-Verberckt, Léa De Bleeckere, Paul Coucke, Björn Menten, Barbara Bauce, Libero Vitiello, Alessandra Rampazzo, Martina Calore, Jolanda van Hengel

Get full text

MicroCT-based phenomics in the zebrafish skeleton reveals virtues of deep phenotyping in a distributed organ system by Matthew Hur, Charlotte A Gistelinck, Philippe Huber, Jane Lee, Marjorie H Thompson, Adrian T Monstad-Rios, Claire J Watson, Sarah K McMenamin, Andy Willaert, David M Parichy, Paul Coucke, Ronald Y Kwon

Get full text

Correcting a PLC Mutation in the Human Germ Line to Overcome Hereditary Infertility by Bieke BEKAERT, Annekatrien BOEL, Lisa DE WITTE, Mina POPOVIC, Panagiotis STAMATIADIS, Gwenny COSEMANS, Lise TORDEURS, Susana MARINA CHUVA DE SOUSA LOPES, Petra DE SUTTER, Björn MENTEN, Dominic STOOP, Paul COUCKE, Björn HEINDRYCKX

Get full text

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics. by Kim De Leeneer, Joachim De Schrijver, Lieven Clement, Machteld Baetens, Steve Lefever, Sarah De Keulenaer, Wim Van Criekinge, Dieter Deforce, Filip Van Nieuwerburgh, Sofie Bekaert, Filip Pattyn, Bram De Wilde, Paul Coucke, Jo Vandesompele, Kathleen Claes, Jan Hellemans

Get full text

Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model. by Marjolijn Renard, Bram Trachet, Christophe Casteleyn, Laurence Campens, Pieter Cornillie, Bert Callewaert, Steven Deleye, Bert Vandeghinste, Paula M van Heijningen, Harry Dietz, Filip De Vos, Jeroen Essers, Steven Staelens, Patrick Segers, Bart Loeys, Paul Coucke, Anne De Paepe, Julie De Backer

Get full text

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta by Thao T. Tran, Rachel B. Keller, Brecht Guillemyn, Melanie Pepin, Jane E. Corteville, Samir Khatib, Mohammad-Sadegh Fallah, Sirous Zeinali, Fransiska Malfait, Sofie Symoens, Paul Coucke, Peter Witters, Elena Levtchenko, Hamideh Bagherian, Deborah A. Nickerson, Michael J. Bamshad, Jessica X. Chong, Peter H. Byers

Get full text