The complete genome sequence of the murine pathobiont Helicobacter typhlonius

by Jeroen eFrank, Celia eDingemanse, Arnoud M. Schmitz, Rolf H. A. M. Vossen, Gert-Jan B. van Ommen, Johan T. den Dunnen, Johan T. den Dunnen, Johan T. den Dunnen, Els C. Robanus-Maandag, Seyed Yahya eAnvar, Seyed Yahya eAnvar
Published 2016-01-01

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

by Pablo Beckers, Jean-Hubert Caberg, Vinciane Dideberg, Tamara Dangouloff, Johan T. den Dunnen, Vincent Bours, Laurent Servais, François Boemer
Published 2021-02-01

Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics

by Rick Overkleeft, Judith Tommel, Andrea W. M. Evers, Johan T. den Dunnen, Marco Roos, Marie-José Hoefmans, Walter E. Schrader, Jesse J. Swen, Mattijs E. Numans, Elisa J. F. Houwink
Published 2020-11-01

Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4

by Ellen Sterrenburg, Caroline G.C. van der Wees, Stefan J. White, Rolf Turk, Renée X. de Menezes, Gert-Jan B. van Ommen, Johan T. den Dunnen, Peter A.C. 't Hoen
Published 2006-07-01

The Role of the European Society of Human Genetics in Delivering Genomic Education

by Edward S. Tobias, Edward S. Tobias, Edward S. Tobias, Elena Avram, Elena Avram, Patricia Calapod, Christophe Cordier, Johan T. den Dunnen, Johan T. den Dunnen, Can Ding, Vita Dolzan, Sofia Douzgou Houge, Sofia Douzgou Houge, Sofia Douzgou Houge, Sally Ann Lynch, James O’Byrne, Philippos Patsalis, Philippos Patsalis, Inga Prokopenko, Inga Prokopenko, Celia A. Soares, Celia A. Soares, Adam P. Tobias, William G. Newman, William G. Newman, William G. Newman
Published 2021-09-01

A dystrophic Duchenne mouse model for testing human antisense oligonucleotides.

by Marcel Veltrop, Laura van Vliet, Margriet Hulsker, Jill Claassens, Conny Brouwers, Cor Breukel, Jos van der Kaa, Margot M Linssen, Johan T den Dunnen, Sjef Verbeek, Annemieke Aartsma-Rus, Maaike van Putten
Published 2018-01-01

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

by Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan T. den Dunnen, Pascal Reynier, Marc Ferré
Published 2019-09-01

Targeting several CAG expansion diseases by a single antisense oligonucleotide.

by Melvin M Evers, Barry A Pepers, Judith C T van Deutekom, Susan A M Mulders, Johan T den Dunnen, Annemieke Aartsma-Rus, Gert-Jan B van Ommen, Willeke M C van Roon-Mom
Published 2011-01-01

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon

by Melvin M. Evers, Hoang-Dai Tran, Ioannis Zalachoras, Barry A. Pepers, Onno C. Meijer, Johan T. den Dunnen, Gert-Jan B. van Ommen, Annemieke Aartsma-Rus, Willeke M.C. van Roon-Mom
Published 2013-10-01

The effects of low levels of dystrophin on mouse muscle function and pathology.

by Maaike van Putten, Margriet Hulsker, Vishna Devi Nadarajah, Sandra H van Heiningen, Ella van Huizen, Maarten van Iterson, Peter Admiraal, Tobias Messemaker, Johan T den Dunnen, Peter A C 't Hoen, Annemieke Aartsma-Rus
Published 2012-01-01

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

by Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, Majida Charif, Estelle Colin, Céline Bris, Valérie Desquiret-Dumas, Dan Milea, Philippe Gohier, Vincent Procaccio, Dominique Bonneau, Johan T. den Dunnen, Guy Lenaers, Pascal Reynier, Marc Ferré
Published 2021-08-01

Comprehensive gene-expression survey identifies wif1 as a modulator of cardiomyocyte differentiation.

by Henk P J Buermans, Bram van Wijk, Margriet A Hulsker, Niels C H Smit, Johan T den Dunnen, Gertjan B van Ommen, Antoon F Moorman, Maurice J van den Hoff, Peter A C 't Hoen
Published 2010-01-01

Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing

by Seyed Yahya Anvar, Guy Allard, Elizabeth Tseng, Gloria M. Sheynkman, Eleonora de Klerk, Martijn Vermaat, Raymund H. Yin, Hans E. Johansson, Yavuz Ariyurek, Johan T. den Dunnen, Stephen W. Turner, Peter A. C. ‘t Hoen
Published 2018-03-01

Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates.

by Menno H Schut, Stefano Patassini, Eric H Kim, Jocelyn Bullock, Henry J Waldvogel, Richard L M Faull, Barry A Pepers, Johan T den Dunnen, Gert-Jan B van Ommen, Willeke M C van Roon-Mom
Published 2017-01-01

Novel protein-protein interactions inferred from literature context.

by Herman H H B M van Haagen, Peter A C 't Hoen, Alessandro Botelho Bovo, Antoine de Morrée, Erik M van Mulligen, Christine Chichester, Jan A Kors, Johan T den Dunnen, Gert-Jan B van Ommen, Silvère M van der Maarel, Vinícius Medina Kern, Barend Mons, Martijn J Schuemie
Published 2009-11-01

Correction: DeepSAGE Reveals Genetic Variants Associated with Alternative Polyadenylation and Expression of Coding and Non-coding Transcripts

by Daria V. Zhernakova, Eleonora de Klerk, Harm-Jan Westra, Anastasios Mastrokolias, Shoaib Amini, Yavuz Ariyurek, Rick Jansen, Brenda W. Penninx, Jouke J. Hottenga, Gonneke Willemsen, Eco J. de Geus, Dorret I. Boomsma, Jan H. Veldink, Leonard H. van den Berg, Cisca Wijmenga, Johan T. den Dunnen, Gert-Jan B. van Ommen, Peter A. C. 't Hoen, Lude Franke
Published 2013-09-01

Correction: DeepSAGE Reveals Genetic Variants Associated with Alternative Polyadenylation and Expression of Coding and Non-coding Transcripts.

by Daria V. Zhernakova, Eleonora de Klerk, Harm-Jan Westra, Anastasios Mastrokolias, Shoaib Amini, Yavuz Ariyurek, Rick Jansen, Brenda W. Penninx, Jouke J. Hottenga, Gonneke Willemsen, Eco J. de Geus, Dorret I. Boomsma, Jan H. Veldink, Leonard H. van den Berg, Cisca Wijmenga, Johan T. den Dunnen, Gert-Jan B. van Ommen, Peter A. C. 't Hoen, Lude Franke
Published 2013-09-01

DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts.

by Daria V Zhernakova, Eleonora de Klerk, Harm-Jan Westra, Anastasios Mastrokolias, Shoaib Amini, Yavuz Ariyurek, Rick Jansen, Brenda W Penninx, Jouke J Hottenga, Gonneke Willemsen, Eco J de Geus, Dorret I Boomsma, Jan H Veldink, Leonard H van den Berg, Cisca Wijmenga, Johan T den Dunnen, Gert-Jan B van Ommen, Peter A C 't Hoen, Lude Franke
Published 2013-06-01

A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

by Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, Erica H. Gerkes, Ilana M. Milller, Stephanie Moortgat, Debra S. Regier, Claudia A. L. Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E. Stuurman, Catherine Vincent-Delorme, Bert B. A. de Vries, Bekim Sadikovic, Scott E. Hickey, Jill A. Rosenfeld, Isabelle Maystadt, Gijs W. E. Santen
Published 2021-08-01

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

by Melissa S Cline, Rachel G Liao, Michael T Parsons, Benedict Paten, Faisal Alquaddoomi, Antonis Antoniou, Samantha Baxter, Larry Brody, Robert Cook-Deegan, Amy Coffin, Fergus J Couch, Brian Craft, Robert Currie, Chloe C Dlott, Lena Dolman, Johan T den Dunnen, Stephanie O M Dyke, Susan M Domchek, Douglas Easton, Zachary Fischmann, William D Foulkes, Judy Garber, David Goldgar, Mary J Goldman, Peter Goodhand, Steven Harrison, David Haussler, Kazuto Kato, Bartha Knoppers, Charles Markello, Robert Nussbaum, Kenneth Offit, Sharon E Plon, Jem Rashbass, Heidi L Rehm, Mark Robson, Wendy S Rubinstein, Dominique Stoppa-Lyonnet, Sean Tavtigian, Adrian Thorogood, Can Zhang, Marc Zimmermann, BRCA Challenge Authors, John Burn, Stephen Chanock, Gunnar Rätsch, Amanda B Spurdle
Published 2018-12-01