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

由 Sturm, Marc, Schroeder, Christopher, Bauer, Peter
發表在 BMC Bioinformatics (2016)

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

由 Sturm, Marc, Quinten, Sascha, Huber, Christian G., Kohlbacher, Oliver
出版 2007

OptiType: precision HLA typing from next-generation sequencing data

由 Szolek, András, Schubert, Benjamin, Mohr, Christopher, Sturm, Marc, Feldhahn, Magdalena, Kohlbacher, Oliver
發表在 Bioinformatics (2014)

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

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

HARVEST, a longitudinal patient record summarizer

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

Novel HIVEP2 Variants in Patients with Intellectual Disability

由 Park, Joohyun, Colombo, Roberto, Schäferhoff, Karin, Janiri, Luigi, Grimmel, Mona, Sturm, Marc, Grasshoff, Ute, Dufke, Andreas, Haack, Tobias B., Kehrer, Martin
發表在 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...

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

OpenMS – An open-source software framework for mass spectrometry

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

Genome-wide UPD screening in patients with intellectual disability

由 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
出版 2014

Guidelines for diagnostic next-generation sequencing

由 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
發表在 Eur J Hum Genet (2016)

Guidelines for diagnostic next-generation sequencing

由 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
發表在 Eur J Hum Genet (2016)

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

由 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
發表在 Hum Genet (2020)

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

由 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
發表在 Breast Cancer Res (2018)

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

由 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
發表在 Front Neurol (2019)

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

由 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
發表在 Eur J Hum Genet (2020)

mzML—a Community Standard for Mass Spectrometry Data

由 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.
出版 2011

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

由 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.
發表在 Ann Clin Transl Neurol (2019)

Next-generation sequencing in X-linked intellectual disability

由 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
發表在 Eur J Hum Genet (2015)

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

由 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
發表在 Hum Mutat (2019)

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

由 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
發表在 Brain (2016)