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

Autor Sturm, Marc, Schroeder, Christopher, Bauer, Peter
Vydáno v BMC Bioinformatics (2016)

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

Autor Sturm, Marc, Quinten, Sascha, Huber, Christian G., Kohlbacher, Oliver
Vydáno 2007

OptiType: precision HLA typing from next-generation sequencing data

Autor Szolek, András, Schubert, Benjamin, Mohr, Christopher, Sturm, Marc, Feldhahn, Magdalena, Kohlbacher, Oliver
Vydáno v Bioinformatics (2014)

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

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

HARVEST, a longitudinal patient record summarizer

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

Novel HIVEP2 Variants in Patients with Intellectual Disability

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

Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux...

Autor Park, Joohyun, Deininger, Natalie, Rautenberg, Maren, Saft, Carsten, Harmuth, Florian, Sturm, Marc, Riess, Olaf, Schöls, Ludger, Synofzik, Matthis, Haack, Tobias B.
Vydáno v Genet Med (2021)

OpenMS – An open-source software framework for mass spectrometry

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

Genome-wide UPD screening in patients with intellectual disability

Autor 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
Vydáno 2014

Guidelines for diagnostic next-generation sequencing

Autor 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
Vydáno v Eur J Hum Genet (2016)

Guidelines for diagnostic next-generation sequencing

Autor 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
Vydáno v Eur J Hum Genet (2016)

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

Autor 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
Vydáno v Hum Genet (2020)

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

Autor 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
Vydáno v Breast Cancer Res (2018)

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

Autor 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
Vydáno v Front Neurol (2019)

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

Autor 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
Vydáno v Eur J Hum Genet (2020)

mzML—a Community Standard for Mass Spectrometry Data

Autor 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.
Vydáno 2011

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

Autor 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.
Vydáno v Ann Clin Transl Neurol (2019)

Next-generation sequencing in X-linked intellectual disability

Autor 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
Vydáno v Eur J Hum Genet (2015)

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Autor Weisschuh, Nicole, Sturm, Marc, Baumann, Britta, Audo, Isabelle, Ayuso, Carmen, Bocquet, Beatrice, Branham, Kari, Brooks, Brian P., Catalá-Mora, Jaume, Giorda, Roberto, Heckenlively, John R., Hufnagel, Robert B., Jacobson, Samuel G., Kellner, Ulrich, Kitsiou-Tzeli, Sofia, Matet, Alexandre, Sampol, Loreto Martorell, Meunier, Isabelle, Rudolph, Günther, Sharon, Dror, Stingl, Katarina, Streubel, Berthold, Varsányi, Balázs, Wissinger, Bernd, Kohl, Susanne
Vydáno v Hum Mutat (2019)

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

Autor 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
Vydáno v Brain (2016)