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

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Guidelines for diagnostic next-generation sequencing von 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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mzML—a Community Standard for Mass Spectrometry Data von 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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Expanding the genetic landscape of congenital neutropenia: CXCR2 mutations in three families revealed through whole exome sequencing von Klimiankou, Maksim, Tesakov, Ivan, Tsaknakis, Grigorios, Boutakoglou, Erasmia, Mavroudi, Irene, Ritter, Malte, Sturm, Marc, Skokowa, Julia, Papadaki, Helen A

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YembaTones: A syllable-tone annotated dataset for speech recognition and prosodic analysis of the Yemba language von Kenfack Jeuguim, Marc Sturm, Melatagia Yonta, Paulin, Sandembouo, Etienne

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OpenMS - an open-source software framework for mass spectrometry von 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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TOPPView: An Open-Source Viewer for Mass Spectrometry Data von Sturm, Marc, Kohlbacher, Oliver

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TOPP—the OpenMS proteomics pipeline von Kohlbacher, Oliver, Reinert, Knut, Gröpl, Clemens, Lange, Eva, Pfeifer, Nico, Schulz-Trieglaff, Ole, Sturm, Marc

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Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions von Mohren, Lars, Erdlenbruch, Friedrich, Leitão, Elsa, Kilpert, Fabian, Hönes, G. Sebastian, Kaya, Sabine, Schröder, Christopher, Thieme, Andreas, Sturm, Marc, Park, Joohyun, Schlüter, Agatha, Ruiz, Montserrat, Morales de la Prida, Moisés, Casasnovas, Carlos, Becker, Kerstin, Roggenbuck, Ulla, Pechlivanis, Sonali, Kaiser, Frank J., Synofzik, Matthis, Wirth, Thomas, Anheim, Mathieu, Haack, Tobias B., Lockhart, Paul J., Jöckel, Karl-Heinz, Pujol, Aurora, Klebe, Stephan, Timmann, Dagmar, Depienne, Christel

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Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target von Caldi Gomes, Lucas, Hänzelmann, Sonja, Hausmann, Fabian, Khatri, Robin, Oller, Sergio, Parvaz, Mojan, Tzeplaeff, Laura, Pasetto, Laura, Gebelin, Marie, Ebbing, Melanie, Holzapfel, Constantin, Columbro, Stefano Fabrizio, Scozzari, Serena, Knöferle, Johanna, Cordts, Isabell, Demleitner, Antonia F., Deschauer, Marcus, Dufke, Claudia, Sturm, Marc, Zhou, Qihui, Zelina, Pavol, Sudria-Lopez, Emma, Haack, Tobias B., Streb, Sebastian, Kuzma-Kozakiewicz, Magdalena, Edbauer, Dieter, Pasterkamp, R. Jeroen, Laczko, Endre, Rehrauer, Hubert, Schlapbach, Ralph, Carapito, Christine, Bonetto, Valentina, Bonn, Stefan, Lingor, Paul

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Bi-allelic truncating mutations in VWA1 cause neuromyopathy von Deschauer, Marcus, Hengel, Holger, Rupprich, Katrin, Kreiß, Martina, Schlotter-Weigel, Beate, Grimmel, Mona, Admard, Jakob, Schneider, Ilka, Alhaddad, Bader, Gazou, Anastasia, Sturm, Marc, Vorgerd, Matthias, Balousha, Ghassan, Balousha, Osama, Falna, Mohammed, Kirschke, Jan S, Kornblum, Cornelia, Jordan, Berit, Kraya, Torsten, Strom, Tim M, Weis, Joachim, Schöls, Ludger, Schara, Ulrike, Zierz, Stephan, Riess, Olaf, Meitinger, Thomas, Haack, Tobias B

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Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia von Giordano, Ilaria, Harmuth, Florian, Jacobi, Heike, Paap, Brigitte, Vielhaber, Stefan, Machts, Judith, Schöls, Ludger, Synofzik, Matthis, Sturm, Marc, Tallaksen, Chantal, Wedding, Iselin M, Boesch, Sylvia, Eigentler, Andreas, van de Warrenburg, Bart, van Gaalen, Judith, Kamm, Christoph, Dudesek, Ales, Kang, Jun-Suk, Timmann, Dagmar, Silvestri, Gabriella, Masciullo, Marcella, Klopstock, Thomas, Neuhofer, Christiane, Ganos, Christos, Filla, Alessandro, Bauer, Peter, Tezenas du Montcel, Sophie, Klockgether, Thomas

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TOPPAS: A Graphical Workflow Editor for the Analysis of High-Throughput Proteomics Data von Junker, Johannes, Bielow, Chris, Bertsch, Andreas, Sturm, Marc, Reinert, Knut, Kohlbacher, Oliver

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Unraveling haplotype errors in the DFNA33 locus von Vona, Barbara, Regele, Sabrina, Rad, Aboulfazl, Strenzke, Nicola, Pater, Justin A., Neumann, Katrin, Sturm, Marc, Haack, Tobias B., Am Zehnhoff-Dinnesen, Antoinette G.

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Understanding the role of genetic variability in LRRK2 in Indian population von Kishore, Asha, Ashok Kumar Sreelatha, Ashwin, 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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Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity von 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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Loss of NFAT2 expression results in the acceleration of clonal evolution in chronic lymphocytic leukemia von Müller, David J., Wirths, Stefan, Fuchs, Alexander R., Märklin, Melanie, Heitmann, Jonas S., Sturm, Marc, Haap, Michael, Kirschniak, Andreas, Sasaki, Yoshiteru, Kanz, Lothar, Kopp, Hans‐Georg, Müller, Martin R.

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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)? von Beck-Wödl, Stefanie, Harzer, Klaus, Sturm, Marc, Buchert, Rebecca, Rieß, Olaf, Mennel, Hans-Dieter, Latta, Elisabeth, Pagenstecher, Axel, Keber, Ursula

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UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays von Schroeder, Christopher, Sturm, Marc, Dufke, Andreas, Mau-Holzmann, Ulrike, Eggermann, Thomas, Poths, Sven, Riess, Olaf, Bonin, Michael

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Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research von Rajan, Roopa, Divya, K. P., Kandadai, Rukmini Mridula, Yadav, Ravi, Satagopam, Venkata P., Madhusoodanan, U. K., Agarwal, Pankaj, Kumar, Niraj, Ferreira, Teresa, Kumar, Hrishikesh, Prasad, A. V. Sreeram, Shetty, Kuldeep, Mehta, Sahil, Desai, Soaham, Kumar, Suresh, Prashanth, L. K., Bhatt, Mohit, Wadia, Pettarusp, Ramalingam, Sudha, Wali, G. M., Pandey, Sanjay, Bartusch, Felix, Hannussek, Maximilian, Krueger, Jens, Kumar-Sreelatha, Ashwin, Grover, Sandeep, Lichtner, Peter, Sturm, Marc, Roeper, Jochen, Busskamp, Volker, Chandak, Giriraj R., Schwamborn, Jens, Seth, Pankaj, Gasser, Thomas, Riess, Olaf, Goyal, Vinay, Pal, Pramod Kumar, Borgohain, Rupam, Krueger, Rejko, Kishore, Asha, Sharma, Manu

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