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)
Get full text
Journal Article
A germline chromothripsis event stably segregating in 11 individuals through three generations
Bertelsen, Birgitte, Nazaryan-Petersen, Lusine, Sun, Wei, Mehrjouy, Mana M., Xie, Gangcai, Chen, Wei, Hjermind, Lena E., Taschner, Peter E.M., Tümer, Zeynep
Published in Genetics in medicine (01.05.2016)
Published in Genetics in medicine (01.05.2016)
Get full text
Journal Article
LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
Fokkema, Ivo F.A.C., den Dunnen, Johan T., Taschner, Peter E.M.
Published in Human mutation (01.08.2005)
Published in Human mutation (01.08.2005)
Get full text
Journal Article
Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma
Baysal, Bora E., Ferrell, Robert E., Willett-Brozick, Joan E., Lawrence, Elizabeth C., Myssiorek, David, Bosch, Anne, van der Mey, Andel, Peter E. M. Taschner, Rubinstein, Wendy S., Myers, Eugene N., Richard, Charles W., Cornelisse, Cees J., Devilee, Peter, Devlin, B.
Published in Science (American Association for the Advancement of Science) (04.02.2000)
Published in Science (American Association for the Advancement of Science) (04.02.2000)
Get full text
Journal Article
Deep sequencing to reveal new variants in pooled DNA samples
Out, Astrid A, van Minderhout, Ivonne J.H.M, Goeman, Jelle J, Ariyurek, Yavuz, Ossowski, Stephan, Schneeberger, Korbinian, Weigel, Detlef, van Galen, Michiel, Taschner, Peter E.M, Tops, Carli M.J, Breuning, Martijn H, van Ommen, Gert-Jan B, den Dunnen, Johan T, Devilee, Peter, Hes, Frederik J
Published in Human mutation (01.12.2009)
Published in Human mutation (01.12.2009)
Get full text
Journal Article
Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease
Mitchison, Hannah M., Bernard, David J., Greene, Nicholas D.E., Cooper, Jonathan D., Junaid, Mohammed A., Pullarkat, Raju K., de Vos, Nanneke, Breuning, Martijn H., Owens, Jennie W., Mobley, William C., Gardiner, R.Mark, Lake, Brian D., Taschner, Peter E.M., Nussbaum, Robert L.
Published in Neurobiology of disease (01.10.1999)
Published in Neurobiology of disease (01.10.1999)
Get full text
Journal Article
Spectrum of Mutations in the Batten Disease Gene, CLN3
Munroe, Patricia B., Mitchison, Hannah M., O'Rawe, Angela M., Anderson, John W., Boustany, Rose-Mary, Lerner, Terry J., Taschner, Peter E.M., Vos, Nanneke de, Breuning, Martijn H., Gardiner, R. Mark, Mole, Sara E.
Published in American journal of human genetics (01.08.1997)
Published in American journal of human genetics (01.08.1997)
Get full text
Journal Article
Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
Kohlhase, Jürgen, Taschner, Peter E.M., Burfeind, Peter, Pasche, Bastian, Newman, Bill, Blanck, Christopher, Breuning, Martijn H., ten Kate, Leo P., Maaswinkel-Mooy, Petra, Mitulla, Beate, Seidel, Jörg, Kirkpatrick, Susan J., Pauli, Richard M., Wargowski, David S., Devriendt, Koen, Proesmans, Willem, Gabrielli, Orazio, Coppa, Giovanni V., Wesby–van Swaay, Eveline, Trembath, Richard C., Schinzel, Albert A., Reardon, William, Seemanova, Eva, Engel, Wolfgang
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
Get full text
Journal Article
LOVD v.2.0: the next generation in gene variant databases
Fokkema, Ivo F. A. C., Taschner, Peter E. M., Schaafsma, Gerard C. P., Celli, J., Laros, Jeroen F. J., den Dunnen, Johan T.
Published in Human mutation (01.05.2011)
Published in Human mutation (01.05.2011)
Get full text
Journal Article
Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice
Leroy, Bernard, Ballinger, Mandy L, Baran-Marszak, Fanny, Bond, Gareth L, Braithwaite, Antony, Concin, Nicole, Donehower, Lawrence A, El-Deiry, Wafik S, Fenaux, Pierre, Gaidano, Gianluca, Langerød, Anita, Hellstrom-Lindberg, Eva, Iggo, Richard, Lehmann-Che, Jacqueline, Mai, Phuong L, Malkin, David, Moll, Ute M, Myers, Jeffrey N, Nichols, Kim E, Pospisilova, Sarka, Ashton-Prolla, Patricia, Rossi, Davide, Savage, Sharon A, Strong, Louise C, Tonin, Patricia N, Zeillinger, Robert, Zenz, Thorsten, Fraumeni, Jr, Joseph F, Taschner, Peter E M, Hainaut, Pierre, Soussi, Thierry
Published in Cancer research (Chicago, Ill.) (15.03.2017)
Published in Cancer research (Chicago, Ill.) (15.03.2017)
Get full text
Journal Article
Locus Reference Genomic sequences: an improved basis for describing human DNA variants
Dalgleish, Raymond, Flicek, Paul, Cunningham, Fiona, Astashyn, Alex, Tully, Raymond E, Proctor, Glenn, Chen, Yuan, McLaren, William M, Larsson, Pontus, Vaughan, Brendan W, Béroud, Christophe, Dobson, Glen, Lehväslaiho, Heikki, Taschner, Peter Em, den Dunnen, Johan T, Devereau, Andrew, Birney, Ewan, Brookes, Anthony J, Maglott, Donna R
Published in Genome medicine (15.04.2010)
Published in Genome medicine (15.04.2010)
Get full text
Journal Article
In search of triallelism in Bardet-Biedl syndrome
ABU-SAFIEH, Leen, AL-ANAZI, Shamsa, AL-SALEM, Ahmad, ALRASHED, May, FAQEIH, Eissa, SOFTAH, Ameen, AL-HASHEM, Amal, WALI, Sami, RAHBEENI, Zuhair, ALSAYED, Moeen, KHAN, Arif O, AL-GAZALI, Lihadh, AL-ABDI, Lama, TASCHNER, Peter Em, AL-HAZZAA, Selwa, ALKURAYA, Fowzan S, HASHEM, Mais, ALKURAYA, Hisham, ALAMR, Mushari, SIRELKHATIM, Mugtaba O, AL-HASSNAN, Zuhair, ALKURAYA, Basim, MOHAMED, Jawahir Y
Published in European journal of human genetics : EJHG (01.04.2012)
Published in European journal of human genetics : EJHG (01.04.2012)
Get full text
Journal Article
Curating gene variant databases (LSDBs): Toward a universal standard
Celli, Jacopo, Dalgleish, Raymond, Vihinen, Mauno, Taschner, Peter E.M., den Dunnen, Johan T.
Published in Human mutation (01.02.2012)
Published in Human mutation (01.02.2012)
Get full text
Journal Article
Caenorhabditis elegans as a model for lysosomal storage disorders
de Voer, Gert, Peters, Dorien, Taschner, Peter E.M.
Published in Biochimica et biophysica acta (01.07.2008)
Published in Biochimica et biophysica acta (01.07.2008)
Get full text
Journal Article
Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease
Mitchison, Hannah M., Bernard, David J., Greene, Nicholas D.E., Cooper, Jonathan D., Junaid, Mohammed A., Pullarkat, Raju K., Vos, Nanneke de, Breuning, Martijn H., Owens, Jennie W., Mobley, William C., Gardiner, R.Mark, Lake, Brian D., Taschner, Peter E.M., Nussbaum, Robert L.
Published in Neurobiology of disease (01.04.2000)
Published in Neurobiology of disease (01.04.2000)
Get full text
Journal Article