Search Results - Marc Sturm

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  1. 1

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

    Published in Data in Brief (2024-02-01)
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  2. 2

    HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer by Anna-Lena Katzke, Marvin Doebel, Jan Hauke, Gunnar Schmidt, Marc Sturm

    Published in Human Genomics (2025-07-01)
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  3. 3

    Expanding the genetic landscape of congenital neutropenia: <i>CXCR2</i> mutations in three families revealed through whole exome sequencing by Maksim Klimiankou, Ivan Tesakov, Grigorios Tsaknakis, Erasmia Boutakoglou, Irene Mavroudi, Malte Ritter, Marc Sturm, Julia Skokowa, Helen A. Papadaki

    Published in Haematologica (2024-08-01)
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  4. 4

    Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa by Peggy Reuter, Jennifer Schroeder, Marc Sturm, Mathieu Quinodoz, Veronika Vaclavik, Miriam Bauwens, Marieke De Bruyne, Bart Leroy, Joseph van Aerschot, Katarina Stingl, Susanne Kohl

    Published in Molecular Medicine (2026-05-01)
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  5. 5

    Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome by Dennis Witt, Ulrike Faust, Gertrud Strobl‐Wildemann, Marc Sturm, Rebecca Buchert, Theresia Zuleger, Jakob Admard, Nicolas Casadei, Stephan Ossowski, Tobias B. Haack, Olaf Rieß, Christopher Schroeder

    Published in Molecular Genetics & Genomic Medicine (2023-06-01)
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  6. 6

    Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study by Julia M. Mandler, Johanna Härtl, Isabell Cordts, Marc Sturm, Dennis M. Hedderich, Cemsel Bafligil, Enayatullah Baki, Benedikt Becker, Gerrit Machetanz, Tobias B. Haack, Achim Berthele, Bernhard Hemmer, Marcus Deschauer

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  7. 7

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

    Published in npj Genomic Medicine (2024-03-01)
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  8. 8

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

    Published in Frontiers in Genetics (2023-08-01)
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  9. 9

    Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease by Asha Kishore, Marc Sturm, Kanchana Soman Pillai, Christopher Hakkaart, Divya Kalikavil Puthanveedu, Madhusoodanan Urulangodi, Syam Krishnan, Ashwin Ashok Kumar Sreelatha, Roopa Rajan, Pramod Kumar Pal, Ravi Yadav, Gangadhara Sarma, Nicolas Casadei, Thomas Gasser, Peter Bauer, Olaf Riess, Manu Sharma

    Published in npj Parkinson's Disease (2024-04-01)
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  10. 10

    NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling [version 2; peer review: 2 approved] by Felix Wiegand, Bianca Stöcker, Famke Bäuerle, Susanne Motameny, Andreas Buness, Alexander J. Probst, Fabian Brand, Axel Schmidt, Tyll Stöcker, Sugirthan Sivalingam, Andreas Petzold, Marc Sturm, Janine Altmueller, Johannes Köster, Kerstin Becker, Leon Brandhoff, Anna Ossowski, Christian Mertes, Avirup Guha Neogi, Gisela Gabernet, Nicholas H. Smith, Friederike Hanssen

    Published in F1000Research (2024-09-01)
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  11. 11

    Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits by Dennis Witt, Marc Sturm, Antje Stäbler, Benita Menden, Lisa Ruisinger, Kristin Bosse, Ines Gruber, Andreas Hartkopf, Silja Gauß, German Demidov, Nicolas Casadei, Elena Buena Atienza, Kira Mehnert, Janna Witt, Caspar Gross, Leon Schütz, Christopher Schroeder, Stephan Ossowski, Andreas Dufke, Tobias B. Haack, Olaf Riess, Ulrike Faust

    Published in Breast (2025-08-01)
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  12. 12

    Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia by Michaela Pogoda, Franz-Joachim Hilke, Franz-Joachim Hilke, Ebba Lohmann, Ebba Lohmann, Ebba Lohmann, Marc Sturm, Florian Lenz, Jakob Matthes, Francesc Muyas, Francesc Muyas, Francesc Muyas, Stephan Ossowski, Stephan Ossowski, Stephan Ossowski, Alexander Hoischen, Alexander Hoischen, Ulrike Faust, Ilnaz Sepahi, Nicolas Casadei, Nicolas Casadei, Sven Poths, Olaf Riess, Olaf Riess, Christopher Schroeder, Kathrin Grundmann

    Published in Frontiers in Neurology (2019-12-01)
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  13. 13

    UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescentsResearch in context by Alexandra Liebmann, Jakob Admard, Sorin Armeanu-Ebinger, Hannah Wild, Michael Abele, Axel Gschwind, Olga Seibel-Kelemen, Christian Seitz, Irina Bonzheim, Olaf Riess, German Demidov, Marc Sturm, Malou Schadeck, Michaela Pogoda, Ewa Bien, Malgorzata Krawczyk, Eva Jüttner, Thomas Mentzel, Maja Cesen, Elke Pfaff, Michal Kunc, Stephan Forchhammer, Andrea Forschner, Ulrike Leiter-Stöppke, Thomas K. Eigentler, Dominik T. Schneider, Christopher Schroeder, Stephan Ossowski, Ines B. Brecht

    Published in EBioMedicine (2023-10-01)
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  14. 14

    Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions by Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, G. Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, 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

    Published in Nature Communications (2024-09-01)
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  15. 15

    Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target by Lucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, Robin Khatri, Sergio Oller, Mojan Parvaz, Laura Tzeplaeff, Laura Pasetto, Marie Gebelin, Melanie 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 Sudria-Lopez, Tobias B. Haack, Sebastian Streb, Magdalena Kuzma-Kozakiewicz, Dieter Edbauer, R. Jeroen Pasterkamp, Endre Laczko, Hubert Rehrauer, Ralph Schlapbach, Christine Carapito, Valentina Bonetto, Stefan Bonn, Paul Lingor

    Published in Nature Communications (2024-06-01)
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  16. 16

    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 by Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Hanns Lochmüller, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

    Published in HGG Advances (2023-04-01)
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