Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

by Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen, Joris R. Vermeesch
Published 2018-12-01

Network analysis of differential expression for the identification of disease-causing genes.

by Daniela Nitsch, Léon-Charles Tranchevent, Bernard Thienpont, Lieven Thorrez, Hilde Van Esch, Koenraad Devriendt, Yves Moreau
Published 2009-01-01

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

by Simon Ardui, Valerie Race, Thomy de Ravel, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris R. Vermeesch
Published 2018-05-01

MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome

by Cedric Thues, Jorge S. Valadas, Liesbeth Deaulmerie, Ann Geens, Amit K. Chouhan, Ramon Duran-Romaña, Joost Schymkowitz, Frederic Rousseau, Michaela Bartusel, Rizwan Rehimi, Alvaro Rada-Iglesias, Patrik Verstreken, Hilde Van Esch
Published 2021-03-01

Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients.

by Charlotte D'Hulst, Inge Heulens, Nathalie Van der Aa, Karolien Goffin, Michel Koole, Kathleen Porke, Marc Van De Velde, Liesbeth Rooms, Wim Van Paesschen, Hilde Van Esch, Koen Van Laere, R Frank Kooy
Published 2015-01-01

Pseudoautosomal region 1 length polymorphism in the human population.

by Martin A Mensah, Matthew S Hestand, Maarten H D Larmuseau, Mala Isrie, Nancy Vanderheyden, Matthias Declercq, Erika L Souche, Jeroen Van Houdt, Radka Stoeva, Hilde Van Esch, Koen Devriendt, Thierry Voet, Ronny Decorte, Peter N Robinson, Joris R Vermeesch
Published 2014-11-01

Comprehensive analysis of neuronal guidance cue expression regulation during monocyte-to-macrophage differentiation reveals post-transcriptional regulation of semaphorin7A by the R...

by Huayu Zhang, Jurriën Prins, Dianne Vreeken, Barend W Florijn, Ruben G de Bruin, Oscar RJ van Hengel, Mieke F van Essen, Jacques MGJ Duijs, Hilde Van Esch, Eric P van der Veer, Anton Jan van Zonneveld, Janine M van Gils
Published 2021-02-01

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

by Fátima Lopes, Fátima Lopes, Fátima Torres, Fátima Torres, Gabriela Soares, Clara D. van Karnebeek, Clara D. van Karnebeek, Cecília Martins, Diana Antunes, João Silva, Lauren Muttucomaroe, Luís Filipe Botelho, Susana Sousa, Susana Sousa, Paula Rendeiro, Purificação Tavares, Hilde Van Esch, Evica Rajcan-Separovic, Patrícia Maciel, Patrícia Maciel
Published 2019-02-01

Quaking promotes monocyte differentiation into pro-atherogenic macrophages by controlling pre-mRNA splicing and gene expression

by Ruben G. de Bruin, Lily Shiue, Jurriën Prins, Hetty C. de Boer, Anjana Singh, W. Samuel Fagg, Janine M. van Gils, Jacques M. G. J. Duijs, Sol Katzman, Adriaan O. Kraaijeveld, Stefan Böhringer, Wai Y. Leung, Szymon M. Kielbasa, John P. Donahue, Patrick H.J. van der Zande, Rick Sijbom, Carla M. A. van Alem, Ilze Bot, Cees van Kooten, J. Wouter Jukema, Hilde Van Esch, Ton J. Rabelink, Hilal Kazan, Erik A. L. Biessen, Manuel Ares Jr., Anton Jan van Zonneveld, Eric P. van der Veer
Published 2016-03-01

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

by Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz
Published 2021-09-01

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

by Christoffer Nellåker, Christoffer Nellåker, Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Gareth Baynam, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Evan E. Eichler, Michael Ferlaino, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Nina Hallowell, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium
Published 2019-07-01