Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy
Beckers, Pablo, Caberg, Jean-Hubert, Dideberg, Vinciane, Dangouloff, Tamara, den Dunnen, Johan T., Bours, Vincent, Servais, Laurent, Boemer, François
Published in Scientific reports (04.02.2021)
Published in Scientific reports (04.02.2021)
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Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles
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.
Published in American journal of human genetics (01.03.2008)
Published in American journal of human genetics (01.03.2008)
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The effects of low levels of dystrophin on mouse muscle function and pathology
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
Published in PloS one (16.02.2012)
Published in PloS one (16.02.2012)
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HGVS Recommendations for the Description of Sequence Variants: 2016 Update
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.
Published in Human mutation (01.06.2016)
Published in Human mutation (01.06.2016)
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New methods for next generation sequencing based microRNA expression profiling
Buermans, Henk P J, Ariyurek, Yavuz, van Ommen, Gertjan, den Dunnen, Johan T, 't Hoen, Peter A C
Published in BMC genomics (20.12.2010)
Published in BMC genomics (20.12.2010)
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Targeting several CAG expansion diseases by a single antisense oligonucleotide
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
Published in PloS one (01.09.2011)
Published in PloS one (01.09.2011)
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Stepwise ABC system for classification of any type of genetic variant
Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans, den Dunnen, Johan T
Published in European journal of human genetics : EJHG (01.02.2022)
Published in European journal of human genetics : EJHG (01.02.2022)
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The LOVD3 platform: efficient genome-wide sharing of genetic variants
Fokkema, Ivo F A C, Kroon, Mark, López Hernández, Julia A, Asscheman, Daan, Lugtenburg, Ivar, Hoogenboom, Jerry, den Dunnen, Johan T
Published in European journal of human genetics : EJHG (01.12.2021)
Published in European journal of human genetics : EJHG (01.12.2021)
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ACO2 clinicobiological dataset with extensive phenotype ontology annotation
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
Published in Scientific data (05.08.2021)
Published in Scientific data (05.08.2021)
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Efficient and sensitive identification and quantification of airborne pollen using next-generation DNA sequencing
Kraaijeveld, Ken, de Weger, Letty A., Ventayol García, Marina, Buermans, Henk, Frank, Jeroen, Hiemstra, Pieter S., den Dunnen, Johan T.
Published in Molecular ecology resources (01.01.2015)
Published in Molecular ecology resources (01.01.2015)
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Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing
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
Published in Genome Biology (29.03.2018)
Published in Genome Biology (29.03.2018)
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Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations
Aartsma-Rus, Annemieke, Fokkema, Ivo, Verschuuren, Jan, Ginjaar, Ieke, van Deutekom, Judith, van Ommen, Gert-Jan, den Dunnen, Johan T
Published in Human mutation (01.03.2009)
Published in Human mutation (01.03.2009)
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High-Resolution Melting Analysis (HRMA)--More than just sequence variant screening
Vossen, Rolf H.A.M, Aten, Emmelien, Roos, Anja, den Dunnen, Johan T
Published in Human mutation (01.06.2009)
Published in Human mutation (01.06.2009)
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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
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
Published in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses
White, Stefan J., Vink, Geraldine R., Kriek, Marjolein, Wuyts, Wim, Schouten, Jan, Bakker, Bert, Breuning, Martijn H., Dunnen, Johan T. den
Published in Human mutation (01.07.2004)
Published in Human mutation (01.07.2004)
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Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?
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.
Published in Human mutation (01.06.2015)
Published in Human mutation (01.06.2015)
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Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Monk, David, Morales, Joannella, den Dunnen, Johan T., Russo, Silvia, Court, Franck, Prawitt, Dirk, Eggermann, Thomas, Beygo, Jasmin, Buiting, Karin, Tümer, Zeynep
Published in Epigenetics (01.02.2018)
Published in Epigenetics (01.02.2018)
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