Region-Specific Expression of Mitochondrial Complex I Genes during Murine Brain Development

af Wirtz, Stefanie, Schuelke, Markus
Udgivet 2011

HomozygosityMapper2012—bridging the gap between homozygosity mapping and deep sequencing

af Seelow, Dominik, Schuelke, Markus
Udgivet 2012

GeneDistiller—Distilling Candidate Genes from Linkage Intervals

af Seelow, Dominik, Schwarz, Jana Marie, Schuelke, Markus
Udgivet 2008

HomozygosityMapper—an interactive approach to homozygosity mapping

af Seelow, Dominik, Schuelke, Markus, Hildebrandt, Friedhelm, Nürnberg, Peter
Udgivet 2009

Hybrid genome assembly and annotation of Danionella translucida

af Kadobianskyi, Mykola, Schulze, Lisanne, Schuelke, Markus, Judkewitz, Benjamin
Udgivet i Sci Data (2019)

Systematic Comparison of Three Methods for Fragmentation of Long-Range PCR Products for Next Generation Sequencing

af Knierim, Ellen, Lucke, Barbara, Schwarz, Jana Marie, Schuelke, Markus, Seelow, Dominik
Udgivet 2011

A systematic, large-scale comparison of transcription factor binding site models

af Hombach, Daniela, Schwarz, Jana Marie, Robinson, Peter N., Schuelke, Markus, Seelow, Dominik
Udgivet i BMC Genomics (2016)

Erratum to: A systematic, large-scale comparison of transcription factor binding site models

af Hombach, Daniela, Schwarz, Jana Marie, Robinson, Peter N., Schuelke, Markus, Seelow, Dominik
Udgivet i BMC Genomics (2016)

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation

af von Renesse, Anja, Morales-Gonzalez, Susanne, Gill, Esther, Salomons, Gajja S., Stenzel, Werner, Schuelke, Markus
Udgivet i JIMD Rep (2018)

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

af Schwarz, Jana Marie, Hombach, Daniela, Köhler, Sebastian, Cooper, David N, Schuelke, Markus, Seelow, Dominik
Udgivet i Nucleic Acids Res (2019)

A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2

af Paisdzior, Sarah, Knierim, Ellen, Kleinau, Gunnar, Biebermann, Heike, Krude, Heiko, Straussberg, Rachel, Schuelke, Markus
Udgivet i Int J Mol Sci (2021)

MutationTaster2021

af Steinhaus, Robin, Proft, Sebastian, Schuelke, Markus, Cooper, David N, Schwarz, Jana Marie, Seelow, Dominik
Udgivet i Nucleic Acids Res (2021)

CARbon DIoxide for the treatment of Febrile seizures: rationale, feasibility, and design of the CARDIF-study

af Ohlraun, Stephanie, Wollersheim, Tobias, Weiß, Claudia, Martus, Peter, Weber-Carstens, Steffen, Schmitz, Dietmar, Schuelke, Markus
Udgivet 2013

MutationDistiller: user-driven identification of pathogenic DNA variants

af Hombach, Daniela, Schuelke, Markus, Knierim, Ellen, Ehmke, Nadja, Schwarz, Jana Marie, Fischer-Zirnsak, Björn, Seelow, Dominik
Udgivet i Nucleic Acids Res (2019)

Complement deposition at the neuromuscular junction in seronegative myasthenia gravis

af Hoffmann, Sarah, Harms, Lutz, Schuelke, Markus, Rückert, Jens-Carsten, Goebel, Hans-Hilmar, Stenzel, Werner, Meisel, Andreas
Udgivet i Acta Neuropathol (2020)

Identification of small non-coding RNAs from mitochondria and chloroplasts

af Lung, Birgit, Zemann, Anja, Madej, Monika J., Schuelke, Markus, Techritz, Sandra, Ruf, Stephanie, Bock, Ralph, Hüttenhofer, Alexander
Udgivet 2006

Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome)

af Brinckmann, Anja, Weiss, Claudia, Wilbert, Friederike, von Moers, Arpad, Zwirner, Angelika, Stoltenburg-Didinger, Gisela, Wilichowski, Ekkehard, Schuelke, Markus
Udgivet 2010

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

af Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S., Horvath, Rita
Udgivet i Hum Mol Genet (2016)

Caveolin 1 Promotes Renal Water and Salt Reabsorption

af Willière, Yan, Borschewski, Aljona, Patzak, Andreas, Nikitina, Tatiana, Dittmayer, Carsten, Daigeler, Anna L., Schuelke, Markus, Bachmann, Sebastian, Mutig, Kerim
Udgivet i Sci Rep (2018)

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

af Buelow, Markus, Süßmuth, David, Smith, Laurie D., Aryani, Omid, Castiglioni, Claudia, Stenzel, Werner, Bertini, Enrico, Schuelke, Markus, Knierim, Ellen
Udgivet i Eur J Hum Genet (2021)