检索结果 - Sturm, Marc

SeqPurge: highly-sensitive adapter trimming for paired-end NGS data 由 Sturm, Marc, Schroeder, Christopher, Bauer, Peter

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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

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OptiType: precision HLA typing from next-generation sequencing data 由 Szolek, András, Schubert, Benjamin, Mohr, Christopher, Sturm, Marc, Feldhahn, Magdalena, Kohlbacher, Oliver

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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

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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

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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

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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.

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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

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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

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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

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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

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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

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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

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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

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Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia 由 Park, Joohyun, Reilaender, Annemarie, Petry-Schmelzer, Jan N., Stöbe, Petra, Cordts, Isabell, Harmuth, Florian, Rautenberg, Maren, Woerz, Sarah E., Demidov, German, Sturm, Marc, Ossowski, Stephan, Schwaibold, Eva M.C., Wunderlich, Gilbert, Paus, Sebastian, Saft, Carsten, Haack, Tobias B.

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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

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Correction to: 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

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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.

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Understanding the Role of Genetic Variability in LRRK2 in Indian Population 由 Kishore, Asha, Sreelatha, Ashwin Ashok Kumar, Sturm, Marc, von-Zweydorf, Felix, Pihlstrøm, Lasse, Raimondi, Francesco, Russell, Rob, Lichtner, Peter, Banerjee, Moinak, Krishnan, Syam, Rajan, Roopa, Puthenveedu, Divya Kalikavil, Chung, Sun Ju, Bauer, Peter, Riess, Olaf, Gloeckner, Christian Johannes, Kruger, Rejko, Gasser, Thomas, Sharma, Manu

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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.

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