SeqPurge: highly-sensitive adapter trimming for paired-end NGS data

Tekijä Sturm, Marc, Schroeder, Christopher, Bauer, Peter
Julkaisussa BMC Bioinformatics (2016)

A statistical learning approach to the modeling of chromatographic retention of oligonucleotides incorporating sequence and secondary structure data

Tekijä Sturm, Marc, Quinten, Sascha, Huber, Christian G., Kohlbacher, Oliver
Julkaistu 2007

OptiType: precision HLA typing from next-generation sequencing data

Tekijä Szolek, András, Schubert, Benjamin, Mohr, Christopher, Sturm, Marc, Feldhahn, Magdalena, Kohlbacher, Oliver
Julkaisussa Bioinformatics (2014)

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Tekijä Beck-Wödl, Stefanie, Harzer, Klaus, Sturm, Marc, Buchert, Rebecca, Rieß, Olaf, Mennel, Hans-Dieter, Latta, Elisabeth, Pagenstecher, Axel, Keber, Ursula
Julkaisussa Acta Neuropathol Commun (2018)

HARVEST, a longitudinal patient record summarizer

Tekijä Hirsch, Jamie S, Tanenbaum, Jessica S, Lipsky Gorman, Sharon, Liu, Connie, Schmitz, Eric, Hashorva, Dritan, Ervits, Artem, Vawdrey, David, Sturm, Marc, Elhadad, Noémie
Julkaisussa J Am Med Inform Assoc (2015)

Novel HIVEP2 Variants in Patients with Intellectual Disability

Tekijä Park, Joohyun, Colombo, Roberto, Schäferhoff, Karin, Janiri, Luigi, Grimmel, Mona, Sturm, Marc, Grasshoff, Ute, Dufke, Andreas, Haack, Tobias B., Kehrer, Martin
Julkaisussa Mol Syndromol (2019)

OpenMS – An open-source software framework for mass spectrometry

Tekijä Sturm, Marc, Bertsch, Andreas, Gröpl, Clemens, Hildebrandt, Andreas, Hussong, Rene, Lange, Eva, Pfeifer, Nico, Schulz-Trieglaff, Ole, Zerck, Alexandra, Reinert, Knut, Kohlbacher, Oliver
Julkaistu 2008

Genome-wide UPD screening in patients with intellectual disability

Tekijä Schroeder, Christopher, Ekici, Arif Bülent, Moog, Ute, Grasshoff, Ute, Mau-Holzmann, Ulrike, Sturm, Marc, Vosseler, Vanessa, Poths, Sven, Rappold, Gudrun, Riess, Angelika, Riess, Olaf, Dufke, Andreas, Bonin, Michael
Julkaistu 2014

Guidelines for diagnostic next-generation sequencing

Tekijä Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Julkaisussa Eur J Hum Genet (2016)

Guidelines for diagnostic next-generation sequencing

Tekijä Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Julkaisussa Eur J Hum Genet (2016)

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

Tekijä Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette, Pauli, Silke
Julkaisussa Hum Genet (2020)

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

Tekijä Penkert, Judith, Schmidt, Gunnar, Hofmann, Winfried, Schubert, Stephanie, Schieck, Maximilian, Auber, Bernd, Ripperger, Tim, Hackmann, Karl, Sturm, Marc, Prokisch, Holger, Hille-Betz, Ursula, Mark, Dorothea, Illig, Thomas, Schlegelberger, Brigitte, Steinemann, Doris
Julkaisussa Breast Cancer Res (2018)

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

Tekijä Pogoda, Michaela, Hilke, Franz-Joachim, Lohmann, Ebba, Sturm, Marc, Lenz, Florian, Matthes, Jakob, Muyas, Francesc, Ossowski, Stephan, Hoischen, Alexander, Faust, Ulrike, Sepahi, Ilnaz, Casadei, Nicolas, Poths, Sven, Riess, Olaf, Schroeder, Christopher, Grundmann, Kathrin
Julkaisussa Front Neurol (2019)

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Tekijä Hengel, Holger, Buchert, Rebecca, Sturm, Marc, Haack, Tobias B., Schelling, Yvonne, Mahajnah, Muhammad, Sharkia, Rajech, Azem, Abdussalam, Balousha, Ghassan, Ghanem, Zaid, Falana, Mohammed, Balousha, Osama, Ayesh, Suhail, Keimer, Reinhard, Deigendesch, Werner, Zaidan, Jimmy, Marzouqa, Hiyam, Bauer, Peter, Schöls, Ludger
Julkaisussa Eur J Hum Genet (2020)

mzML—a Community Standard for Mass Spectrometry Data

Tekijä Martens, Lennart, Chambers, Matthew, Sturm, Marc, Kessner, Darren, Levander, Fredrik, Shofstahl, Jim, Tang, Wilfred H., Römpp, Andreas, Neumann, Steffen, Pizarro, Angel D., Montecchi-Palazzi, Luisa, Tasman, Natalie, Coleman, Mike, Reisinger, Florian, Souda, Puneet, Hermjakob, Henning, Binz, Pierre-Alain, Deutsch, Eric W.
Julkaistu 2011

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

Tekijä Park, Joohyun, Koko, Mahmoud, Hedrich, Ulrike B. S., Hermann, Andreas, Cremer, Kirsten, Haberlandt, Edda, Grimmel, Mona, Alhaddad, Bader, Beck‐Woedl, Stefanie, Harrer, Merle, Karall, Daniela, Kingelhoefer, Lisa, Tzschach, Andreas, Matthies, Lars C., Strom, Tim M., Ringelstein, Erich Bernd, Sturm, Marc, Engels, Hartmut, Wolff, Markus, Lerche, Holger, Haack, Tobias B.
Julkaisussa Ann Clin Transl Neurol (2019)

Next-generation sequencing in X-linked intellectual disability

Tekijä Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter
Julkaisussa Eur J Hum Genet (2015)

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Tekijä Synofzik, Matthis, Smets, Katrien, Mallaret, Martial, Di Bella, Daniela, Gallenmüller, Constanze, Baets, Jonathan, Schulze, Martin, Magri, Stefania, Sarto, Elisa, Mustafa, Mona, Deconinck, Tine, Haack, Tobias, Züchner, Stephan, Gonzalez, Michael, Timmann, Dagmar, Stendel, Claudia, Klopstock, Thomas, Durr, Alexandra, Tranchant, Christine, Sturm, Marc, Hamza, Wahiba, Nanetti, Lorenzo, Mariotti, Caterina, Koenig, Michel, Schöls, Ludger, Schüle, Rebecca, de Jonghe, Peter, Anheim, Mathieu, Taroni, Franco, Bauer, Peter
Julkaisussa Brain (2016)

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

Tekijä Sepahi, Ilnaz, Faust, Ulrike, Sturm, Marc, Bosse, Kristin, Kehrer, Martin, Heinrich, Tilman, Grundman-Hauser, Kathrin, Bauer, Peter, Ossowski, Stephan, Susak, Hana, Varon, Raymonda, Schröck, Evelin, Niederacher, Dieter, Auber, Bernd, Sutter, Christian, Arnold, Norbert, Hahnen, Eric, Dworniczak, Bernd, Wang-Gorke, Shan, Gehrig, Andrea, Weber, Bernhard H. F., Engel, Christoph, Lemke, Johannes R., Hartkopf, Andreas, Nguyen, Huu Phuc, Riess, Olaf, Schroeder, Christopher
Julkaisussa BMC Cancer (2019)

Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient

Tekijä Löffler, Markus W., Chandran, P. Anoop, Laske, Karoline, Schroeder, Christopher, Bonzheim, Irina, Walzer, Mathias, Hilke, Franz J., Trautwein, Nico, Kowalewski, Daniel J., Schuster, Heiko, Günder, Marc, Carcamo Yañez, Viviana A., Mohr, Christopher, Sturm, Marc, Nguyen, Huu-Phuc, Riess, Olaf, Bauer, Peter, Nahnsen, Sven, Nadalin, Silvio, Zieker, Derek, Glatzle, Jörg, Thiel, Karolin, Schneiderhan-Marra, Nicole, Clasen, Stephan, Bösmüller, Hans, Fend, Falko, Kohlbacher, Oliver, Gouttefangeas, Cécile, Stevanović, Stefan, Königsrainer, Alfred, Rammensee, Hans-Georg
Julkaisussa J Hepatol (2016)