A standardized framework for the validation and verification of clinical molecular genetic tests von Mattocks, Christopher J, Morris, Michael A, Matthijs, Gert, Swinnen, Elfriede, Corveleyn, Anniek, Dequeker, Els, Müller, Clemens R, Pratt, Victoria, Wallace, Andrew

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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1 von Larsen, Mirjam, Rost, Simone, El Hajj, Nady, Ferbert, Andreas, Deschauer, Marcus, Walter, Maggie C, Schoser, Benedikt, Tacik, Pawel, Kress, Wolfram, Müller, Clemens R

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Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2 von Rost, Simone, Fregin, Andreas, Ivaskevicius, Vytautas, Conzelmann, Ernst, Hörtnagel, Konstanze, Pelz, Hans-Joachim, Lappegard, Knut, Seifried, Erhard, Scharrer, Inge, Tuddenham, Edward G. D., Müller, Clemens R., Strom, Tim M., Oldenburg, Johannes

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Human Vitamin K 2,3-Epoxide Reductase Complex Subunit 1-like 1 (VKORC1L1) Mediates Vitamin K-dependent Intracellular Antioxidant Function von Westhofen, Philipp, Watzka, Matthias, Marinova, Milka, Hass, Moritz, Kirfel, Gregor, Müller, Jens, Bevans, Carville G., Müller, Clemens R., Oldenburg, Johannes

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The genetic basis of resistance to anticoagulants in rodents von Pelz, Hans-Joachim, Rost, Simone, Hünerberg, Mirja, Fregin, Andreas, Heiberg, Ann-Charlotte, Baert, Kristof, MacNicoll, Alan D, Prescott, Colin V, Walker, Anne-Sophie, Oldenburg, Johannes, Müller, Clemens R

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Human VKORC1 mutations cause variable degrees of 4-hydroxycoumarin resistance and affect putative warfarin binding interfaces von Czogalla, Katrin J., Biswas, Arijit, Wendeln, Ann-Christin, Westhofen, Philipp, Müller, Clemens R., Watzka, Matthias, Oldenburg, Johannes

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Mini-gene assays confirm the splicing effect of deep intronic variants in the factor VIII gene von Bach, J. Elisa, Müller, Clemens R., Rost, Simone

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Risk assessment and genetic counseling in families with Duchenne muscular dystrophy von Grimm, Tiemo, Kress, Wolfram, Meng, Gerhard, Müller, Clemens R

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Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication von Lippert, Juliane, Appenzeller, Silke, Liang, Raimunde, Sbiera, Silviu, Kircher, Stefan, Altieri, Barbara, Nanda, Indrajit, Weigand, Isabel, Gehrig, Andrea, Steinhauer, Sonja, Riemens, Renzo J M, Rosenwald, Andreas, Müller, Clemens R, Kroiss, Matthias, Rost, Simone, Fassnacht, Martin, Ronchi, Cristina L

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Site-directed mutagenesis of coumarin-type anticoagulant-sensitive VKORC1: evidence that highly conserved amino acids define structural requirements of enzymatic activity and inhib... von Rost, Simone, Fregin, Andreas, Hünerberg, Mirja, Bevans, Carville G, Müller, Clemens R, Oldenburg, Johannes

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Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed i... von Ducreux, Sylvie, Zorzato, Francesco, Ferreiro, Ana, Jungbluth, Heinz, Muntoni, Francesco, Monnier, Nicole, Müller, Clemens R, Treves, Susan

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BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer von Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Groß, Eva, Blümcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Müller, Clemens R, Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmüller, Janine, Neidhardt, Guido, Nürnberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad, Volk, Alexander E, Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph, Arnold, Norbert, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K, Hahnen, Eric

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Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeo... von TILGEN, Nikola, ZORZATO, Francesco, TREVES, Susan, HALLIGER-KELLER, Birgit, MUNTONI, Francesco, SEWRY, Caroline, PALMUCCI, Laura M, SCHNEIDER, Christiane, HAUSER, Erwin, LEHMANN-HORN, Frank, MÜLLER, Clemens R

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How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy von Clemen, Christoph S., Fischer, Dirk, Reimann, Jens, Eichinger, Ludwig, Müller, Clemens R., Müller, Harald D., Goebel, Hans H., Schröder, Rolf

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Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene von Bach, Elisa J., Wolf, Beat, Oldenburg, Johannes, Müller, Clemens R., Rost, Simone

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Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6 von Rost, Simone, Bach, Elisa, Neuner, Cordula, Nanda, Indrajit, Dysek, Sandra, Bittner, Reginald E, Keller, Alexander, Bartsch, Oliver, Mlynski, Robert, Haaf, Thomas, Müller, Clemens R, Kunstmann, Erdmute

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Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG von Schorling, David C, Rost, Simone, Lefeber, Dirk J, Brady, Lauren, Müller, Clemens R, Korinthenberg, Rudolf, Tarnopolsky, Mark, Bönnemann, Carsten G, Rodenburg, Richard J, Bugiani, Marianna, Beytia, Maria, Krüger, Marcus, van der Knaap, Marjo, Kirschner, Jan

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Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype von Larsen, Mirjam, Kress, Wolfram, Schoser, Benedikt, Hehr, Ute, Müller, Clemens R, Rost, Simone

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Distribution and frequency of VKORC1 sequence variants conferring resistance to anticoagulants in Mus musculus von Pelz, Hans-Joachim, Rost, Simone, Müller, Elisabeth, Esther, Alexandra, Ulrich, Rainer G, Müller, Clemens R

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Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia von Johannsen, Stephan, Treves, Susan, Müller, Clemens R, Mögele, Susanne, Schneiderbanger, Daniel, Roewer, Norbert, Schuster, Frank

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