Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases
Saffari, Afshin, Schröter, Julian, Garbade, Sven F., Alecu, Julian E., Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Kölker, Stefan, Ries, Markus, Syrbe, Steffen
Published in Autophagy (03.07.2022)
Published in Autophagy (03.07.2022)
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Journal Article
The Symptom Complex of Familial Sinus Node Dysfunction and Myocardial Noncompaction Is Associated With Mutations in the HCN4 Channel
Schweizer, Patrick A., MD, Schröter, Julian, BSc, Greiner, Sebastian, MD, Haas, Jan, PhD, Yampolsky, Pessah, PhD, Mereles, Derliz, MD, Buss, Sebastian J., MD, Seyler, Claudia, PhD, Bruehl, Claus, PhD, Draguhn, Andreas, MD, Koenen, Michael, PhD, Meder, Benjamin, MD, Katus, Hugo A., MD, Thomas, Dierk, MD
Published in Journal of the American College of Cardiology (26.08.2014)
Published in Journal of the American College of Cardiology (26.08.2014)
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Journal Article
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
Brennenstuhl, Heiko, Nashawi, Mohammed, Schröter, Julian, Baronio, Federico, Beedgen, Lars, Gleich, Florian, Jeltsch, Kathrin, Landenberg, Christina, Martini, Silvia, Simon, Anna, Thiel, Christian, Tsiakas, Konstantinos, Opladen, Thomas, Kölker, Stefan, Hoffmann, Georg F., Haas, Dorothea
Published in Journal of inherited metabolic disease (01.09.2021)
Published in Journal of inherited metabolic disease (01.09.2021)
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Journal Article
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder
Semino, Francesca, Schröter, Julian, Willemsen, Marjolein H., Bast, Thomas, Biskup, Saskia, Beck‐Woedl, Stefanie, Brennenstuhl, Heiko, Schaaf, Christian P., Kölker, Stefan, Hoffmann, Georg F., Haack, Tobias B., Syrbe, Steffen
Published in Human mutation (01.09.2021)
Published in Human mutation (01.09.2021)
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Journal Article
Altered HCN4 channel C-linker interaction is associated with familial tachycardia-bradycardia syndrome and atrial fibrillation
Duhme, Nana, Schweizer, Patrick A, Thomas, Dierk, Becker, Rüdiger, Schröter, Julian, Barends, Thomas R M, Schlichting, Ilme, Draguhn, Andreas, Bruehl, Claus, Katus, Hugo A, Koenen, Michael
Published in European heart journal (01.09.2013)
Published in European heart journal (01.09.2013)
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Journal Article
Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders
Döring, Jan H, Schröter, Julian, Jüngling, Jerome, Biskup, Saskia, Klotz, Kerstin A, Bast, Thomas, Dietel, Tobias, Korenke, G Christoph, Christoph, Sophie, Brennenstuhl, Heiko, Rubboli, Guido, Møller, Rikke S, Lesca, Gaetan, Chaix, Yves, Kölker, Stefan, Hoffmann, Georg F, Lemke, Johannes R, Syrbe, Steffen
Published in International journal of molecular sciences (10.03.2021)
Published in International journal of molecular sciences (10.03.2021)
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Journal Article
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1
Thalwitzer, Kim M, Driedger, Jan H, Xian, Julie, Saffari, Afshin, Zacher, Pia, Bölsterli, Bigna K, McKeown Ruggiero, Sarah, Sullivan, Katie Rose, Datta, Alexandre N, Kellinghaus, Christoph, Althaus, Jürgen, Wiemer-Kruel, Adelheid, van Baalen, Andreas, Pampel, Armin, Alber, Michael, Braakman, Hilde M H, Debus, Otfried M, Denecke, Jonas, Hobbiebrunken, Elke, Breitweg, Ina, Diehl, Danielle, Eitel, Hans, Gburek-Augustat, Janina, Preisel, Martin, Schlump, Jan-Ulrich, Laufs, Mirjam, Mammadova, Dilbar, Wurst, Carsten, Prager, Christine, Löhr-Nilles, Christa, Martin, Peter, Garbade, Sven F, Platzer, Konrad, Benkel-Herrenbrueck, Ira, Egler, Kerstin, Fazeli, Walid, Lemke, Johannes R, Runkel, Eva, Klein, Barbara, Linden, Tobias, Schröter, Julian, Steffeck, Heike, Thies, Bastian, von Deimling, Florian, Illsinger, Sabine, Borggraefe, Ingo, Classen, Georg, Wieczorek, Dagmar, Ramantani, Georgia, Koelker, Stefan, Hoffmann, Georg F, Ries, Markus, Helbig, Ingo, Syrbe, Steffen
Published in Neurology (29.08.2023)
Published in Neurology (29.08.2023)
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Journal Article
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
Schröter, Julian, Popp, Bernt, Brennenstuhl, Heiko, Döring, Jan H, Donze, Stephany H, Bijlsma, Emilia K, van Haeringen, Arie, Huhle, Dagmar, Jestaedt, Leonie, Merkenschlager, Andreas, Arelin, Maria, Gräfe, Daniel, Neuser, Sonja, Oates, Stephanie, Pal, Deb K, Parker, Michael J, Lemke, Johannes R, Hoffmann, Georg F, Kölker, Stefan, Harting, Inga, Syrbe, Steffen
Published in European journal of human genetics : EJHG (01.03.2022)
Published in European journal of human genetics : EJHG (01.03.2022)
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Journal Article
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Mütze, Ulrike, Henze, Lucy, Schröter, Julian, Gleich, Florian, Lindner, Martin, Grünert, Sarah C, Spiekerkoetter, Ute, Santer, René, Thimm, Eva, Ensenauer, Regina, Weigel, Johannes, Beblo, Skadi, Arélin, Maria, Hennermann, Julia B, Marquardt, Iris, Freisinger, Peter, Krämer, Johannes, Dieckmann, Andrea, Weinhold, Natalie, Schiergens, Katharina A, Maier, Esther M, Hoffmann, Georg F, Garbade, Sven F, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.11.2023)
Published in Journal of inherited metabolic disease (01.11.2023)
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Journal Article
Pacemaker cell characteristics of differentiated and HCN4-transduced human mesenchymal stem cells
Darche, Fabrice F., Rivinius, Rasmus, Köllensperger, Eva, Leimer, Uwe, Germann, Günter, Seckinger, Anja, Hose, Dirk, Schröter, Julian, Bruehl, Claus, Draguhn, Andreas, Gabriel, Richard, Schmidt, Manfred, Koenen, Michael, Thomas, Dierk, Katus, Hugo A., Schweizer, Patrick A.
Published in Life sciences (1973) (01.09.2019)
Published in Life sciences (1973) (01.09.2019)
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Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy
Schröter, Julian, Syring, Hanna, Göhring, Gudrun, Kölker, Stefan, Opladen, Thomas, Hoffmann, Georg F., Syrbe, Steffen, Jung-Klawitter, Sabine
Published in Stem cell research (01.10.2022)
Published in Stem cell research (01.10.2022)
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Journal Article
Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy
Schröter, Julian, Syring, Hanna, Göhring, Gudrun, Kölker, Stefan, Opladen, Thomas, Hoffmann, Georg F., Syrbe, Steffen, Jung-Klawitter, Sabine
Published in Stem cell research (01.07.2022)
Published in Stem cell research (01.07.2022)
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Journal Article
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
Schröter, Julian, Dattner, Tal, Hüllein, Jennifer, Jayme, Alejandra, Heuveline, Vincent, Hoffmann, Georg F., Kölker, Stefan, Lenz, Dominic, Opladen, Thomas, Popp, Bernt, Schaaf, Christian P., Staufner, Christian, Syrbe, Steffen, Uhrig, Sebastian, Hübschmann, Daniel, Brennenstuhl, Heiko
Published in Computational and structural biotechnology journal (01.01.2023)
Published in Computational and structural biotechnology journal (01.01.2023)
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Journal Article
aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
Schroeter, Julian, Dattner, Tal, Huellein, Jennifer, Jayme, Alejandra, Heuveline, Vincent, Georg Friedrich Hoffmann, Koelker, Stefan, Lenz, Dominic, Opladen, Thomas, Popp, Bernt, Schaaf, Christian Patrick, Staufner, Christian, Syrbe, Steffen, Uhrig, Sebastian, Huebschmann, Daniel, Brennenstuhl, Heiko
Published in bioRxiv (20.10.2022)
Published in bioRxiv (20.10.2022)
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