Auflistung Universitätsbibliographie nach Autor "Sturm, Marc"

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A comprehensive quality control workflow for paired tumor-normal NGS experiments

Schroeder, Christopher M.; Hilke, Franz J.; Loeffler, Markus W.; Bitzer, Michael; Lenz, Florian; Sturm, Marc (2017)
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies

Dufke, Andreas; Hoopmann, Markus; Waldmuller, Stephan; Prodan, Natalia Carmen; Beck-Woedl, Stefanie; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Falb, Ruth J.; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Mueller, Amelie J.; Grimmel, Mona; Stoebe, Petra; Gauck, Darja; Buchert-Lo, Rebecca; Baumann, Sarah; Schaeferhoff, Karin; Bertrand, Miriam; Menden, Benita; Sturm, Marc; Schuetz, Leon; Riess, Olaf; Ossowski, Stephan; Haack, Tobias B.; Kagan, Karl Oliver (2022)
Abstract B124: Personalized peptide vaccination based on patient-individual tumor-specific variants induces T-cell responses in pediatric patients

Rabsteyn, Armin; Kyzirakos, Christina; Schroeder, Christopher M; Sturm, Marc; Mohr, Christopher; Matthes, Jakob; Feldhahn, Magdalena; Casadei, Nicolas; Ebinger, Martin; Stevanovic, Stefan; Bauer, Peter; Kohlbacher, Oliver; Gouttefangeas, Cecile; Schäfer, Jürgen; Rammensee, Hans-Georg; Lang, Peter; Handgretinger, Rupert (2019)
An Automated Pipeline for High-Throughput Label-Free Quantitative Proteomics

Weisser, Hendrik; Nahnsen, Sven; Grossmann, Jonas; Nilse, Lars; Quandt, Andreas; Brauer, Hendrik; Sturm, Marc; Kenar, Erhan; Kohlbacher, Oliver; Aebersold, Ruedi; Malinstroemt, Lars (2013)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Husain, Ralf A.; Grimmel, Mona; Wagner, Matias; Hennings, J. Christopher; Marx, Christian; Feichtinger, Rene G.; Saadi, Abdelkrim; Rostasy, Kevin; Radelfahr, Florentine; Bevot, Andrea; Doebler-Neumann, Marion; Hartmann, Hans; Colleaux, Laurence; Cordts, Isabell; Kobeleva, Xenia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Besse, Arnaud; Ng, Andy Cheuk-Him; Chiang, Diana; Bolduc, Francois; Tafakhori, Abbas; Mane, Shrikant; Firouzabadi, Saghar Ghasemi; Huebner, Antje K.; Buchert, Rebecca; Beck-Woedl, Stefanie; Mueller, Amelie J.; Laugwitz, Lucia; Naegele, Thomas; Wang, Zhao-Qi; Strom, Tim M.; Sturm, Marc; Meitinger, Thomas; Klockgether, Thomas; Riess, Olaf; Klopstock, Thomas; Brandl, Ulrich; Huebner, Christian A.; Deschauer, Marcus; Mayr, Johannes A.; Bonnen, Penelope E.; Kraegeloh-Mann, Ingeborg; Wortmann, Saskia B.; Haack, Tobias B. (2020)
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Falb, Ruth J.; Mueller, Amelie J.; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute; Spranger, Stephanie; Stoebe, Petra; Gauck, Darja; Kuechler, Alma; Dikow, Nicola; Schwaibold, Eva M. C.; Schmidt, Christoph; Averdunk, Luisa; Buchert, Rebecca; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Hartmann, Silke; Horn, Denise; Emmerich, Dirk; Hirt, Nina; Neumann, Armin; Kristiansen, Glen; Gembruch, Ulrich; Haen, Susanne; Siebert, Reiner; Hentze, Sabine; Hoopmann, Markus; Ossowski, Stephan; Waldmueller, Stephan; Beck-Woedl, Stefanie; Glaeser, Dieter; Tekesin, Ismail; Distelmaier, Felix; Riess, Olaf; Kagan, Karl-Oliver; Dufke, Andreas; Haack, Tobias B. (2023)
Bi-allelic truncating mutations in VWA1 cause neuromyopathy

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; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas; Haack, Tobias B. (2021)
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Feichtinger, Rene G.; Mucha, Bettina E.; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D'Anjou, Guy; Thi Tuyet Mai Nguyen; Buchert, Rebecca; Juenger, Hendrik; Freisinger, Peter; Baumeister, Sarah; Schoser, Benedikt; Ahting, Uwe; Keimer, Reinhard; Nguyen, Cam-Tu Emilie; Fabre, Paul; Gauthier, Julie; Miguet, Marguerite; Lopes, Fatima; AlHakeem, Afnan; AlHashem, Amal; Tabarki, Brahim; Kandaswamy, Krishna Kumar; Bauer, Peter; Steinbacher, Peter; Prokisch, Holger; Sturm, Marc; Strom, Tim M.; Ellezam, Benjamin; Mayr, Johannes A.; Schoels, Ludger; Michaud, Jacques L.; Campeau, Philippe M.; Haack, Tobias B.; Dumont, Nicolas A. (2019)
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

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 (2018)
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schoels, 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; du Montcel, Sophie Tezenas; Klockgether, Thomas (2017)
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

Fritzen, Daniel; Kuechler, Alma; Grimmel, Mona; Becker, Jessica; Peters, Sophia; Sturm, Marc; Hundertmark, Hela; Schmidt, Axel; Kreiss, Martina; Strom, Tim M.; Wieczorek, Dagmar; Haack, Tobias B.; Beck-Woedl, Stefanie; Cremer, Kirsten; Engels, Hartmut (2018)
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

Ufartes, Roser; Berger, Hanna; Till, Katharina; Salinas, Gabriela; Sturm, Marc; Altmueller, Janine; Nuernberg, Peter; Thiele, Holger; Funke, Rudolf; Apeshiotis, Neophytos; Langen, Hendrik; Wollnik, Bernd; Borchers, Annette; Pauli, Silke
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Park, Joohyun; Flores, Bianca R.; Scherer, Katalin; Kuepper, Hanna; Rossi, Mari; Rupprich, Katrin; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Delpire, Eric; Haack, Tobias B. (2020)
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catala-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, Gunther; Sharon, Dror; Stingl, Katarina; Streubel, Berthold; Varsanyi, Balazs; Wissinger, Bernd; Kohl, Susanne (2020)
Erratum to "Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient"

Löffler, Markus W.; Chandran, Anoop P.; Laske, Karoline; Schroeder, Christopher; Bonzheim, Irina; Walzer, Mathias; Hilke, Franz J.; Trautwein, Nico; Schuster, Heiko; Günder, Marc; Carcamo Yanez, Viviana; Sturm, Marc; Nguyen, Huu-Phuc; Rieß, Olaf; Bauer, Peter; Nahnsen, Sven; Nadalin, Silvio; Zieker, Derek; Glatzle, Jörg; Thiel, Karolin; Schneiderhan-Marra, Nicole; Clasen, Stephan; Bösmüller, Hans; Fend, Falko; Kowalewski, Daniel J.; Mohr, Christopher (2017)
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants

Haertl, Johanna; Hartberger, Julia; Wunderlich, Silke; Cordts, Isabell; Bafligil, Cemsel; Sturm, Marc; Westphal, Dominik; Haack, Tobias; Hemmer, Bernhard; Ikenberg, Benno David; Deschauer, Marcus (2023)
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

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; Schoels, Ludger (2020)
Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis

Eiseler, Katharina; Neppl, Lea; Schmidt, Andreas W.; Rauscher, Beate; Ewers, Maren; Masson, Emmanuelle; Chen, Jian-Min; Ferec, Claude; Rebours, Vinciane; Grammatikopoulos, Tassos; Foskett, Pierre; Greenhalf, William; Halloran, Christopher; Neoptolemos, John; Haack, Tobias B.; Ossowski, Stephan; Sturm, Marc; Rosendahl, Jonas; Laumen, Helmut; Witt, Heiko (2023)
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)

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