Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy von Beckers, Pablo, Caberg, Jean-Hubert, Dideberg, Vinciane, Dangouloff, Tamara, den Dunnen, Johan T., Bours, Vincent, Servais, Laurent, Boemer, François

Volltext

HGVS Recommendations for the Description of Sequence Variants: 2016 Update von den Dunnen, Johan T., Dalgleish, Raymond, Maglott, Donna R., Hart, Reece K., Greenblatt, Marc S., McGowan-Jordan, Jean, Roux, Anne-Francoise, Smith, Timothy, Antonarakis, Stylianos E., Taschner, Peter E.M.

Volltext

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles von Bruder, Carl E.G., Piotrowski, Arkadiusz, Gijsbers, Antoinet A.C.J., Andersson, Robin, Erickson, Stephen, Diaz de Ståhl, Teresita, Menzel, Uwe, Sandgren, Johanna, von Tell, Desiree, Poplawski, Andrzej, Crowley, Michael, Crasto, Chiquito, Partridge, E. Christopher, Tiwari, Hemant, Allison, David B., Komorowski, Jan, van Ommen, Gert-Jan B., Boomsma, Dorret I., Pedersen, Nancy L., den Dunnen, Johan T., Wirdefeldt, Karin, Dumanski, Jan P.

Volltext

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion von Dunnen, Johan T. den, Antonarakis, Stylianos E.

Volltext

The effects of low levels of dystrophin on mouse muscle function and pathology von van Putten, Maaike, Hulsker, Margriet, Nadarajah, Vishna Devi, van Heiningen, Sandra H, van Huizen, Ella, van Iterson, Maarten, Admiraal, Peter, Messemaker, Tobias, den Dunnen, Johan T, 't Hoen, Peter A C, Aartsma-Rus, Annemieke

Volltext

New methods for next generation sequencing based microRNA expression profiling von Buermans, Henk P J, Ariyurek, Yavuz, van Ommen, Gertjan, den Dunnen, Johan T, 't Hoen, Peter A C

Volltext

Stepwise ABC system for classification of any type of genetic variant von Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans, den Dunnen, Johan T

Volltext

The LOVD3 platform: efficient genome-wide sharing of genetic variants von Fokkema, Ivo F. A. C., Kroon, Mark, Hernandez, Julia A. Lopez, Asscheman, Daan, Lugtenburg, Ivar, Hoogenboom, Jerry, den Dunnen, Johan T.

Volltext

Targeting several CAG expansion diseases by a single antisense oligonucleotide von Evers, Melvin M, Pepers, Barry A, van Deutekom, Judith C T, Mulders, Susan A M, den Dunnen, Johan T, Aartsma-Rus, Annemieke, van Ommen, Gert-Jan B, van Roon-Mom, Willeke M C

Volltext

Efficient and sensitive identification and quantification of airborne pollen using next-generation DNA sequencing von Kraaijeveld, Ken, de Weger, Letty A., Ventayol García, Marina, Buermans, Henk, Frank, Jeroen, Hiemstra, Pieter S., den Dunnen, Johan T.

Volltext

Describing Sequence Variants Using HGVS Nomenclature von den Dunnen, Johan T.

Volltext

ACO2 clinicobiological dataset with extensive phenotype ontology annotation von Guehlouz, Khadidja, Foulonneau, Thomas, Amati-Bonneau, Patrizia, Charif, Majida, Colin, Estelle, Bris, Céline, Desquiret-Dumas, Valérie, Milea, Dan, Gohier, Philippe, Procaccio, Vincent, Bonneau, Dominique, den Dunnen, Johan T., Lenaers, Guy, Reynier, Pascal, Ferré, Marc

Volltext

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome? von Sun, Yu, Ruivenkamp, Claudia A.L., Hoffer, Mariëtte J.V., Vrijenhoek, Terry, Kriek, Marjolein, van Asperen, Christi J., den Dunnen, Johan T., Santen, Gijs W.E.

Volltext

Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing von Anvar, Seyed Yahya, Allard, Guy, Tseng, Elizabeth, Sheynkman, Gloria M, de Klerk, Eleonora, Vermaat, Martijn, Yin, Raymund H, Johansson, Hans E, Ariyurek, Yavuz, den Dunnen, Johan T, Turner, Stephen W, 't Hoen, Peter A C

Volltext

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations von Aartsma-Rus, Annemieke, Fokkema, Ivo, Verschuuren, Jan, Ginjaar, Ieke, van Deutekom, Judith, van Ommen, Gert-Jan, den Dunnen, Johan T

Volltext

Standardizing variant naming in literature with VariantValidator to increase diagnostic rates von Freeman, Peter J., Wagstaff, John F., Fokkema, Ivo F. A. C., Cutting, Garry R., Rehm, Heidi L., Davies, Angela C., den Dunnen, Johan T., Gretton, Liam J., Dalgleish, Raymond

Volltext

High-Resolution Melting Analysis (HRMA)--More than just sequence variant screening von Vossen, Rolf H.A.M, Aten, Emmelien, Roos, Anja, den Dunnen, Johan T

Volltext

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling von Logan, Clare V, Szabadkai, György, Sharpe, Jenny A, Parry, David A, Torelli, Silvia, Childs, Anne-Marie, Kriek, Marjolein, Phadke, Rahul, Johnson, Colin A, Roberts, Nicola Y, Bonthron, David T, Pysden, Karen A, Whyte, Tamieka, Munteanu, Iulia, Foley, A Reghan, Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Abdelhamed, Zakia A, Morgan, Joanne E, Roper, Helen, Santen, Gijs W E, Niks, Erik H, van der Pol, W Ludo, Lindhout, Dick, Raffaello, Anna, De Stefani, Diego, den Dunnen, Johan T, Sun, Yu, Ginjaar, Ieke, Sewry, Caroline A, Hurles, Matthew, Rizzuto, Rosario, Duchen, Michael R, Muntoni, Francesco, Sheridan, Eamonn

Volltext

A dystrophic Duchenne mouse model for testing human antisense oligonucleotides von Veltrop, Marcel, van Vliet, Laura, Hulsker, Margriet, Claassens, Jill, Brouwers, Conny, Breukel, Cor, van der Kaa, Jos, Linssen, Margot M, den Dunnen, Johan T, Verbeek, Sjef, Aartsma-Rus, Annemieke, van Putten, Maaike

Volltext

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database von Le Roux, Bastien, Lenaers, Guy, Zanlonghi, Xavier, Amati-Bonneau, Patrizia, Chabrun, Floris, Foulonneau, Thomas, Caignard, Angélique, Leruez, Stéphanie, Gohier, Philippe, Procaccio, Vincent, Milea, Dan, den Dunnen, Johan T, Reynier, Pascal, Ferré, Marc

Volltext