MutationTaster2: mutation prediction for the deep-sequencing age von Schwarz, Jana Marie, Cooper, David N, Schuelke, Markus, Seelow, Dominik

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MutationTaster evaluates disease-causing potential of sequence alterations von Seelow, Dominik, Schwarz, Jana Marie, Rödelsperger, Christian, Schuelke, Markus

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The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease von Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan

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Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers von Steinhaus, Robin, Gonzalez, Tonatiuh, Seelow, Dominik, Robinson, Peter N.

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Improved exome prioritization of disease genes through cross-species phenotype comparison von Robinson, Peter N, Köhler, Sebastian, Oellrich, Anika, Wang, Kai, Mungall, Christopher J, Lewis, Suzanna E, Washington, Nicole, Bauer, Sebastian, Seelow, Dominik, Krawitz, Peter, Gilissen, Christian, Haendel, Melissa, Smedley, Damian

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The 22nd annual Nucleic Acids Research Web Server Issue 2024 von Seelow, Dominik

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Editorial: the 21st annual Nucleic Acids Research Web Server Issue 2023 von Seelow, Dominik

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SIGLEC1 (CD169): a marker of active neuroinflammation in the brain but not in the blood of multiple sclerosis patients von Ostendorf, Lennard, Dittert, Philipp, Biesen, Robert, Duchow, Ankelien, Stiglbauer, Victoria, Ruprecht, Klemens, Bellmann-Strobl, Judith, Seelow, Dominik, Stenzel, Werner, Niesner, Raluca A., Hauser, Anja E., Paul, Friedemann, Radbruch, Helena

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Discovery of a non-canonical GRHL1 binding site using deep convolutional and recurrent neural networks von Proft, Sebastian, Leiz, Janna, Heinemann, Udo, Seelow, Dominik, Schmidt-Ott, Kai M, Rutkiewicz, Maria

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Editorial: the 20th annual Nucleic Acids Research Web Server Issue 2022 von Seelow, Dominik

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Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing von Knierim, Ellen, Lucke, Barbara, Schwarz, Jana Marie, Schuelke, Markus, Seelow, Dominik

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Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay von Wilpert, Nina-Maria, Thamm, Roma, Thamm, Michael, Kratzsch, Jürgen, Seelow, Dominik, Vogel, Mandy, Krude, Heiko, Schuelke, Markus

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Editorial: the 18th annual Nucleic Acids Research web server issue 2020 von Seelow, Dominik

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Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations von Rajab, Anna, Straub, Volker, McCann, Liza J, Seelow, Dominik, Varon, Raymonda, Barresi, Rita, Schulze, Anne, Lucke, Barbara, Lützkendorf, Susanne, Karbasiyan, Mohsen, Bachmann, Sebastian, Spuler, Simone, Schuelke, Markus

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GeneDistiller--distilling candidate genes from linkage intervals von Seelow, Dominik, Schwarz, Jana Marie, Schuelke, Markus

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Alternative splicing is coupled to gene expression in a subset of variably expressed genes von Karlebach, Guy, Steinhaus, Robin, Danis, Daniel, Devoucoux, Maeva, Anczuków, Olga, Sheynkman, Gloria, Seelow, Dominik, Robinson, Peter N.

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Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis von Hildebrandt, Friedhelm, Treier, Mathias, Attanasio, Massimo, Uhlenhaut, N Henriette, Sousa, Vitor H, O'Toole, John F, Otto, Edgar, Anlag, Katrin, Klugmann, Claudia, Treier, Anna-Corina, Helou, Juliana, Sayer, John A, Seelow, Dominik, Nürnberg, Gudrun, Becker, Christian, Chudley, Albert E, Nürnberg, Peter

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Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects von Baasanjav, Sevjidmaa, Al-Gazali, Lihadh, Hashiguchi, Taishi, Mizumoto, Shuji, Fischer, Bjoern, Horn, Denise, Seelow, Dominik, Ali, Bassam R., Aziz, Samir A.A., Langer, Ruth, Saleh, Ahmed A.H., Becker, Christian, Nürnberg, Gudrun, Cantagrel, Vincent, Gleeson, Joseph G., Gomez, Delphine, Michel, Jean-Baptiste, Stricker, Sigmar, Lindner, Tom H., Nürnberg, Peter, Sugahara, Kazuyuki, Mundlos, Stefan, Hoffmann, Katrin

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RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity von Jenkins, Dagan, Seelow, Dominik, Jehee, Fernanda S., Perlyn, Chad A., Alonso, Luís G., Bueno, Daniela F., Donnai, Dian, Josifiova, Dragana, Mathijssen, Irene M.J., Morton, Jenny E.V., Helene Ørstavik, Karen, Sweeney, Elizabeth, Wall, Steven A., Marsh, Jeffrey L., Nürnberg, Peter, Rita Passos-Bueno, Maria, Wilkie, Andrew O.M.

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Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders von Michalk, Anne, Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G., Janetzki, Catrin, Yaqoob, Nausheen, Ott, Claus-Eric, Seelow, Dominik, Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Körber, Friederike, Blankenburg, Markus, Mundlos, Stefan, Heller, Raoul, Hoffmann, Katrin

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