Browsing Universitätsbibliographie by Author "Sturm, Marc"

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Browsing Universitätsbibliographie by Author "Sturm, Marc"

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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
    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 (2020)
  • Genetic basis of neurodevelopmental disorders in 103 Jordanian families
    Froukh, Tawfiq; Nafie, Omar; Al Hait, Sana' A. S.; Laugwitz, Lucia; Sommerfeld, Julia; Sturm, Marc; Baraghiti, Aya; Issa, Tala; Al-Nazer, Anis; Koch, Philipp A.; Hanselmann, Johannes; Kootz, Beate; Bauer, Peter; Al-Ameri, Wael; Abou Jamra, Rami; Alfrook, Ayman J.; Hamadallah, Moath; Sofan, Linda; Riess, Angelika; Haack, Tobias B.; Riess, Olaf; Buchert, Rebecca (2020)
  • Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Kuster-Hauser Syndrome
    Buchert, Rebecca; Schenk, Elisabeth; Hentrich, Thomas; Weber, Nico; Rall, Katharina; Sturm, Marc; Kohlbacher, Oliver; Koch, Andre; Riess, Olaf; Brucker, Sara Y.; Schulze-Hentrich, Julia M. (2022)
  • Genome-wide UPD screening in patients with intellectual disability
    Schroeder, Christopher; Ekici, Arif Buelent; Moog, Ute; Grasshoff, Ute; Mau-Holzmann, Ulrike; Sturm, Marc; Vosseler, Vanessa; Poths, Sven; Rappold, Gudrun; Riess, Angelika; Riess, Olaf; Dufke, Andreas; Bonini, Michael (2014)
  • Genomes in clinical care
    Riess, Olaf; Sturm, Marc; Menden, Benita; Liebmann, Alexandra; Demidov, German; Witt, Dennis; Casadei, Nicolas; Admard, Jakob; Schuetz, Leon; Ossowski, Stephan; Taylor, Stacie; Schaffer, Sven; Schroeder, Christopher; Dufke, Andreas; Haack, Tobias (2024)
  • Guidelines for diagnostic next-generation sequencing
    Matthijs, Gert; Souche, Erika; Alders, Marielle; Corveleyn, Anniek; Eck, Sebastian; Feenstra, Ilse; Race, Valerie; Sistermans, Erik; Sturm, Marc; Weiss, Marjan; Yntema, Helger; Bakker, Egbert; Scheffer, Hans; Bauer, Peter (2016)
  • HBOC multi-gene panel testing: comparison of two sequencing centers
    Schroeder, Christopher; Faust, Ulrike; Sturm, Marc; Hackmann, Karl; Grundmann, Kathrin; Harmuth, Florian; Bosse, Kristin; Kehrer, Martin; Benkert, Tanja; Klink, Barbara; Mackenroth, Luisa; Betcheva-Krajcir, Elitza; Wimberger, Pauline; Kast, Karin; Heilig, Mechthilde; Huu Phuc Nguyen; Riess, Olaf; Schroeck, Evelin; Bauer, Peter; Rump, Andreas (2015)
  • Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
    Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger (2022)
  • Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?
    Beck-Woedl, Stefanie; Harzer, Klaus; Sturm, Marc; Buchert, Rebecca; Riess, Olaf; Mennel, Hans-Dieter; Latta, Elisabeth; Pagenstecher, Axel; Keber, Ursula (2018)
  • Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
    Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Soehn, Anne S.; Reichbauer, Jennifer; Tao, Feifei; Rattay, Tim W.; Peitz, Michael; Rehbach, Kristina; Giorgetti, Alejandro; Pyle, Angela; Thiele, Holger; Altmueller, Janine; Timmann, Dagmar; Karaca, Ilker; Lennarz, Martina; Baets, Jonathan; Hengel, Holger; Synofzik, Matthis; Atasu, Burcu; Feely, Shawna; Kennerson, Marina; Stendel, Claudia; Lindig, Tobias; Gonzalez, Michael A.; Stirnberg, Ruediger; Sturm, Marc; Roeske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Bruestle, Oliver; Klopstock, Thomas; Mathews, Katherine D.; Shy, Michael E.; de Jonghe, Peter; Chinnery, Patrick F.; Horvath, Rita; Kohlhase, Juergen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang; Schoels, Ludger; Nuernberg, Peter; Zuchner, Stephan; Klockgether, Thomas; Ramirez, Alfredo; Schuele, Rebecca (2017)
  • Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
    Sepahi, Ilnaz; Faust, Ulrike; Sturm, Marc; Bosse, Kristin; Kehrer, Martin; Heinrich, Tilman; Grundman-Hauser, Kathrin; Bauer, Peter; Ossowski, Stephan; Susak, Hana; Varon, Raymonda; Schroeck, Evelin; Niederacher, Dieter; Auber, Bernd; Sutter, Christian; Arnold, Norbert; Hahnen, Eric; Dworniczak, Bernd; Wang-Gorke, Shan; Gehrig, Andrea; Weber, Bernhard H. F.; Engel, Christoph; Lemke, Johannes R.; Hartkopf, Andreas; Huu Phuc Nguyen; Riess, Olaf; Schroeder, Christopher (2019)
  • iVacALL: utilizing next-generation sequencing for the establishment of an individual peptide vaccination approach for paediatric acute lymphoblastic leukaemia
    Kyzirakos, C.; Pflueckhahn, U.; Sturm, M.; Schroeder, C.; Bauer, P.; Walter, M.; Feldhahn, M.; Walzer, M.; Mohr, C.; Szolek, A.; Bonin, M.; Kohlbacher, Oliver; Ebinger, M.; Handgretinger, Rupert; Rammensee, Hans-Georg; Land, P. (2013)
  • KCNC1-related disorders: new de novo variants expand the phenotypic spectrum
    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. (2019)
  • Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline
    Park, Joohyun; Sturm, Marc; Seibel-Kelemen, Olga; Ossowski, Stephan; Haack, Tobias B.; Witsch-Baumgartner, Martina; Muehlegger, Beatrix (2024)
  • Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci
    Baumann, Alexandra; Ruckert, Christian; Meier, Christoph; Hutschenreiter, Tim; Remy, Robert; Schnur, Benedikt; Doebel, Marvin; Fankep, Rudel Christian Nkouamedjo; Skowronek, Dariush; Kutz, Oliver; Arnold, Norbert; Katzke, Anna-Lena; Forster, Michael; Kobiela, Anna-Lena; Thiedig, Katharina; Zimmer, Andreas; Ritter, Julia; Weber, Bernhard H. F.; Honisch, Ellen; Hackmann, Karl; Schmidt, Gunnar; Sturm, Marc; Ernst, Corinna; Arnold, Norbert; Baumann, Alexandra; Dobel, Marvin; Drukewitz, Stephan; Engel, Christoph; Ernst, Corinna; Fankep, Rudel Christian Nkouamedjo; Forster, Michael; Frommolt, Peter; Gross, Eva; Hackmann, Karl; Helmuth, Johannes; Honisch, Ellen; Hutschenreiter, Tim; Katzke, Anna-Lena; Kobiela, Anna-Lena; Kowalzyk, Zarah; Kutz, Oliver; Meier, Christoph; Radtke, Maximilian; Ramser, Juliane; Remy, Robert; Ritter, Julia; Ruckert, Christian; Schmidt, Gunnar; Schnur, Benedikt; Skowronek, Dariush; Sturm, Marc; Thiedig, Katharina; Uebe, Steffen; Wang-Gohrke, Shan; Zimmer, Andreas (2024)
  • Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline
    Granzow, M.; Paramasivam, N.; Hinderhofer, K.; Fischer, C.; Chotewutmontri, S.; Kaufmann, L.; Evers, C.; Kotzaeridou, U.; Rohrschneider, K.; Schlesner, M.; Sturm, M.; Pinkert, S.; Eils, R.; Bartram, C. R.; Bauer, P.; Moog, U. (2015)
  • Loss of NFAT2 expression results in the acceleration of clonal evolution in chronic lymphocytic leukemia
    Mueller, David J.; Wirths, Stefan; Fuchs, Alexander R.; Maerklin, Melanie; Heitmann, Jonas S.; Sturm, Marc; Haap, Michael; Kirschniak, Andreas; Sasaki, Yoshiteru; Kanz, Lothar; Kopp, Hans-Georg; Mueller, Martin R. (2019)
  • Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
    Ellwanger, Kornelia; Brill, Julie A.; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, Francois; Lobato, Amanda G.; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E.; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R. Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sanchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schuele, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M.; Lasko, Paul; Riess, Olaf (2024)
  • Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
    Tiong Yang Tan; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J.; Strauss, Kevin A.; Brigatti, Karlla; Puffenberger, Erik; Li, Dong; Xie, LiQin; Das, Nanditha; Skubas, Ioanna; Deckelbaum, Ron A.; Hughes, Virginia; Brydges, Susannah; Hatsell, Sarah; Siao, Chia-Jen; Dominguez, Melissa G.; Economides, Aris; Overton, John D.; Mayne, Valerie; Simm, Peter J.; Jones, Bryn O.; Eggers, Stefanie; Le Guyader, Gwenael; Pelluard, Fanny; Haack, Tobias B.; Sturm, Marc; Riess, Angelika; Waldmueller, Stephan; Hofbeck, Michael; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Hakonarson, Hakon; Baker, Naomi L.; Farlie, Peter G. (2017)
  • Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma
    Loeffler, Markus W.; Mohr, Christopher; Bichmann, Leon; Freudenmann, Lena Katharina; Walzer, Mathias; Schroeder, Christopher M.; Trautwein, Nico; Hilke, Franz J.; Zinser, Raphael S.; Muehlenbruch, Lena; Kowalewski, Daniel J.; Schuster, Heiko; Sturm, Marc; Matthes, Jakob; Riess, Olaf; Czemmel, Stefan; Nahnsen, Sven; Koenigsrainer, Ingmar; Thiel, Karolin; Nadalin, Silvio; Beckert, Stefan; Boesmueller, Hans; Fend, Falko; Velic, Ana; Macek, Boris; Haen, Sebastian P.; Buonaguro, Luigi; Kohlbacher, Oliver; Stevanovic, Stefan; Koenigsrainer, Alfred; Mayer-Mokler, Andrea; Weinschenk, Toni; Flohr, Christian; Reinhardt, Carsten; Singh-Jasuja, Harpreet; Accolla, Roberto S.; Tosi, Giovanna; Forlani, Greta; Ma, Yuk T.; Adams, David; Valmori, Danila; Chaumette, Tanguy; Heidenreich, Regina; Koenigsrainer, Alfred; Loeffler, Markus W.; Rammensee, Hans-Georg; Gouttefangeas, Cecile; Sangro, Bruno; Inarrairaegui, Mercedes; Francque, Sven; Vonghia, Luisa; Tagliamonte, Maria; Petrizzo, Annacarmen; Buonaguro, Luigi; Tornesello, Maria Lina; Buonaguro, Franco M. (2019)