Ngā hua rapu - Marc Sturm

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  1. 1
    SeqPurge: highly-sensitive adapter trimming for paired-end NGS data

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

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    OptiType: precision HLA typing from next-generation sequencing data

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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

    Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)? mā Stefanie Beck‐Wödl, K. Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, E. Latta, Axel Pagenstecher, Ursula Keber

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    HARVEST, a longitudinal patient record summarizer

    HARVEST, a longitudinal patient record summarizer mā Jamie S. Hirsch, Jessica S Tanenbaum, Sharon Lipsky Gorman, Connie Liu, Eric Schmitz, Dritan Hashorva, Artem Ervits, David K. Vawdrey, Marc Sturm, Noémie Elhadad

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    OpenMS – An open-source software framework for mass spectrometry

    OpenMS – An open-source software framework for mass spectrometry mā Marc Sturm, Andreas Bertsch, Clemens Gröpl, Andreas Hildebrandt, René Hussong, Eva Lange, Nico Pfeifer, Ole Schulz-Trieglaff, Alexandra Zerck, Knut Reinert, Oliver Kohlbacher

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Erratum: Guidelines for diagnostic next-generation sequencing

    Erratum: Guidelines for diagnostic next-generation sequencing mā Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Errata/Corrigenda
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  7. 7
    Guidelines for diagnostic next-generation sequencing

    Guidelines for diagnostic next-generation sequencing mā Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Genomes in clinical care

    Genomes in clinical care mā Olaf Rieß, Marc Sturm, Benita Menden, Alexandra Liebmann, German Demidov, Dennis Witt, Nicolas Casadei, Jakob Admard, Leon Schütz, Stephan Ossowski, Stacie L. Taylor, Sven Schaffer, Christopher Schroeder, Andreas Dufke, Tobias B. Haack

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  9. 9
    <i>KCNC1</i>‐related disorders: new de novo variants expand the phenotypic spectrum

    <i>KCNC1</i>‐related disorders: new de novo variants expand the phenotypic spectrum mā Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich, Andreas Hermann, Kirsten Cremer, Edda Haberlandt, Mona Grimmel, Bader Alhaddad, Stefanie Beck‐Woedl, Merle Harrer, Daniela Karall, Lisa Kingelhoefer, Andreas Tzschach, Lars C. Matthies, Tim M. Strom, E. Bernd Ringelstein, Marc Sturm, Hartmut Engels, Markus Wolff, Holger Lerche, Tobias B. Haack

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Next-generation sequencing in X-linked intellectual disability

    Next-generation sequencing in X-linked intellectual disability mā Andreas Tzschach, Ute Grasshoff, Stefanie Beck‐Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, Christina Evers, Ute Moog, Barbara Oehl‐Jaschkowitz, Nataliya Di Donato, Robert Maiwald, Christine Jung, Alma Kuechler, Solveig Schulz, Peter Meinecke, Stephanie Spranger, Jürgen Kohlhase, Jörg Seidel, Silke Reif, Manuela Rieger, Angelika Rieß, Marc Sturm, Julia Bickmann, Christopher Schroeder, Andreas Dufke, Olaf Rieß, Peter Bauer

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

    SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study mā Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa, Tine Deconinck, Tobias B. Haack, Stephan Züchner, Michael Gonzalez, Dagmar Timmann, Claudia Stendel, Thomas Klopstock, Alexandra Dürr, Christine Tranchant, Marc Sturm, Wahiba Hamza, Lorenzo Nanetti, Caterina Mariotti, Michel Kœnig, Lüdger Schöls, Rebecca Schüle, Peter De Jonghe, Mathieu Anheim, Franco Taroni, Peter Bauer

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

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

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma

    Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma mā Markus Löffler, Christopher Mohr, Leon Bichmann, Lena Katharina Freudenmann, Mathias Walzer, Christopher Schroeder, Nico Trautwein, Franz J. Hilke, Raphael S. Zinser, Lena Mühlenbruch, Daniel J. Kowalewski, Heiko Schuster, Marc Sturm, Jakob Matthes, Olaf Rieß, Stefan Czemmel, Sven Nahnsen, Ingmar Königsrainer, Karolin Thiel, Silvio Nadalin, Stefan Beckert, Hans Bösmüller, Falko Fend, Ana Velić, Boris Maček, Sebastian P. Haen, Luigi Buonaguro, Oliver Kohlbacher, Stefan Stevanović, Alfred Königsrainer, Hans‐Georg Rammensee

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions

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

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient

    Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient mā Markus Löffler, P. Anoop Chandran, Karoline Laske, Christopher Schroeder, Irina Bonzheim, Mathias Walzer, Franz J. Hilke, Nico Trautwein, Daniel J. Kowalewski, Heiko Schuster, Marc Günder, Viviana A. Carcamo Yañez, Christopher Mohr, Marc Sturm, Huu Phuc Nguyen, Olaf Rieß, Peter Bauer, Sven Nahnsen, Silvio Nadalin, Derek Zieker, Jörg Glatzle, Karolin Thiel, Nicole Schneiderhan‐Marra, Stephan Clasen, Hans Bösmüller, Falko Fend, Oliver Kohlbacher, Cécile Gouttefangeas, Stefan Stevanović, Alfred Königsrainer, Hans‐Georg Rammensee

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases mā Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G. Stühn, Miriam Bertrand, Amelie J. Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Françoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, T. Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Rieß, Katarína Štingl, Tobias B. Haack

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    Recommendations for whole genome sequencing in diagnostics for rare diseases

    Recommendations for whole genome sequencing in diagnostics for rare diseases mā Erika Souche, Sergi Beltrán, Erwin Brosens, John W. Belmont, Magdalena Fossum, Olaf Rieß, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Mariëlle van Gijn, Jill Clayton‐Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C. Deans, Yasemin Dincer, Sebastian Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graeßner, Marc Sturm, Helen V. Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Maçek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G. Yntema, Marjan M. Weiss

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  18. 18
    Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target

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

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

    Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions mā Tiong Yang Tan, Claudia Gonzaga‐Jauregui, Elizabeth Bhoj, Kevin A. Strauss, Karlla W. Brigatti, Erik G. Puffenberger, Dong Li, Liqin Xie, Nanditha Das, Ioanna Skubas, Ron A. Deckelbaum, Virginia C. Hughes, Susannah Brydges, Sarah Hatsell, Chia-Jen Siao, Melissa G. Dominguez, Aris N. Economides, John D. Overton, Valerie Mayne, Peter Simm, Bryn Jones, Stefanie Eggers, Gwenaël Le Guyader, Fanny Pelluard, Tobias B. Haack, Marc Sturm, Angelika Rieß, Stephan Waldmueller, Michael Hofbeck, Katharina Steindl, Pascal Joset, Anita Rauch, Hákon Hákonarson, Naomi L. Baker, Peter G. Farlie

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  20. 20
    RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses

    RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses mā Emil K. Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant‐Peters, Jesse D. Fox, Silke Appel‐Cresswell, A. Jon Stoessl, Alex Rajput, Ali H. Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B. Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño‐Güell, Mina Ryten, Matthew S. Goldberg, Andrew B. West, Joshua Shulman, Huw R. Morris, Manu Sharma, Ziv Gan‐Or, Bedia Samancı, Paweł Lis, María Teresa Periñán, Rim Amouri, Samia Ben Sassi, F. Hentati, Francesca Tonelli, Dario R. Alessi, Matthew J. Farrer

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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