A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
Zimprich, Alexander, Benet-Pagès, Anna, Struhal, Walter, Graf, Elisabeth, Eck, Sebastian H., Offman, Marc N., Haubenberger, Dietrich, Spielberger, Sabine, Schulte, Eva C., Lichtner, Peter, Rossle, Shaila C., Klopp, Norman, Wolf, Elisabeth, Seppi, Klaus, Pirker, Walter, Presslauer, Stefan, Mollenhauer, Brit, Katzenschlager, Regina, Foki, Thomas, Hotzy, Christoph, Reinthaler, Eva, Harutyunyan, Ashot, Kralovics, Robert, Peters, Annette, Zimprich, Fritz, Brücke, Thomas, Poewe, Werner, Auff, Eduard, Trenkwalder, Claudia, Rost, Burkhard, Ransmayr, Gerhard, Winkelmann, Juliane, Meitinger, Thomas, Strom, Tim M.
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
JAMRA, Rami Abou, PHILIPPE, Orianne, MUNNICH, Arnold, STROM, Tim M, REIS, Andre, COLLEAUX, Laurence, RAAS-ROTHSCHILD, Annick, ECK, Sebastian H, GRAF, Elisabeth, BUCHERT, Rebecca, BORCK, Guntram, EKICI, Arif, BROCKSCHMIDT, Felix F, NÖTHEN, Markus M
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
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Journal Article
c-Jun/c-Fos heterodimers regulate cellular genes via a newly identified class of methylated DNA sequence motifs
Gustems, Montse, Woellmer, Anne, Rothbauer, Ulrich, Eck, Sebastian H, Wieland, Thomas, Lutter, Dominik, Hammerschmidt, Wolfgang
Published in Nucleic acids research (01.03.2014)
Published in Nucleic acids research (01.03.2014)
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Journal Article
Recommendations for whole genome sequencing in diagnostics for rare diseases
Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W, Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C, Dincer, Yasemin, Eck, Sebastian H, van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G, Weiss, Marjan M
Published in European journal of human genetics : EJHG (01.09.2022)
Published in European journal of human genetics : EJHG (01.09.2022)
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Journal Article
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2
STOGMANN, Elisabeth, REINTHALER, Eva, ECK, Sebastian H, PATARAIA, Ekaterina, MEI, Davide, BRICE, Alexis, LESAGE, Suzanne, GUERRINI, Renzo, ZIMPRICH, Friedrich, STROM, Tim M, ZIMPRICH, Alexander, EITAWIL, Salwa, EL ETRIBI, Mohammed A, HEMEDA, Mahmoud, EL NAHHAS, Nevine, GABER, Ahmed M, FOUAD, Amal, EDRIS, Sherif, BENET-PAGES, Anna
Published in Brain (London, England : 1878) (01.04.2013)
Published in Brain (London, England : 1878) (01.04.2013)
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Multiple Integration and Data Annotation Study (MIDAS): improving next-generation sequencing data analysis by genotype-phenotype correlations
Dincer, Yasemin, Schulz, Julian, Wilson, Sandra, Marschall, Christoph, Cohen, Monika Y., Mall, Volker, Klein, Hanns-Georg, Eck, Sebastian H.
Published in Laboratoriumsmedizin (25.04.2018)
Published in Laboratoriumsmedizin (25.04.2018)
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Journal Article
Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards
Vogl, Ina, Eck, Sebastian H., Benet-Pagès, Anna, Greif, Philipp A., Hirv, Kaimo, Kotschote, Stefan, Kuhn, Marius, Gehring, Andrea, Bergmann, Carsten, Bolz, Hanno Jörn, Stuhrmann, Manfred, Biskup, Saskia, Metzeler, Klaus H., Klein, Hanns-Georg
Published in Laboratoriumsmedizin (01.07.2012)
Published in Laboratoriumsmedizin (01.07.2012)
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Journal Article
Identification of Recurring Tumor-Specific Somatic Mutations In Acute Myeloid Leukemia by Transcriptome Sequencing
Greif, Philipp A, Eck, Sebastian H, Konstandin, Nikola, Benet-Pages, Anna, Dufour, Annika, Vetter, Anna, Popp, Henning, Lorenz-Depiereux, Bettina, Meitinger, Thomas, Bohlander, Stefan K, Strom, Tim M
Published in Blood (19.11.2010)
Published in Blood (19.11.2010)
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Journal Article
RNAseq Analysis of the Bovine Endometrium Transcriptome During the Pre-Implantation Phase
Bauersachs, Stefan, Graf, Alexander, Ulbrich, Susanne E., Gross, Karin, Benet-Pages, Anna, Eck, Sebastian H., Strom, Tim M., Reichenbach, Horst-Dieter, Wolf, Eckhard
Published in Biology of reproduction (01.11.2010)
Published in Biology of reproduction (01.11.2010)
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Journal Article
Applications and data analysis of next-generation sequencing: Applikationen und Datenanalyse von Next Generation Sequencing
Vogl, Ina, Benet-Pagès, Anna, Eck, Sebastian H., Kuhn, Marius, Vosberg, Sebastian, Greif, Philipp A., Metzeler, Klaus H., Biskup, Saskia, Müller-Reible, Clemens, Klein, Hanns-Georg
Published in Laboratoriumsmedizin (01.11.2013)
Published in Laboratoriumsmedizin (01.11.2013)
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Journal Article
Applications and data analysis of next-generation sequencing
Vogl, Ina, Benet-Pagès, Anna, Eck, Sebastian H., Kuhn, Marius, Vosberg, Sebastian, Greif, Philipp A., Metzeler, Klaus H., Biskup, Saskia, Müller-Reible, Clemens, Klein, Hanns-Georg
Published in Laboratoriumsmedizin (01.11.2013)
Published in Laboratoriumsmedizin (01.11.2013)
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Journal Article
Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards
Vogl, Ina, Eck, Sebastian H., Benet-Pagès, Anna, Greif, Philipp A., Hirv, Kaimo, Kotschote, Stefan, Kuhn, Marius, Gehring, Andrea, Bergmann, Carsten, Bolz, Hanno Jörn, Stuhrmann, Manfred, Biskup, Saskia, Metzeler, Klaus H., Klein, Hanns-Georg
Published in Laboratoriumsmedizin (01.07.2012)
Published in Laboratoriumsmedizin (01.07.2012)
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