A standardized framework for the validation and verification of clinical molecular genetic tests
MATTOCKS, Christopher J, MORRIS, Michael A, MATTHIJS, Gert, SWINNEN, Elfriede, CORVELEYN, Anniek, DEQUEKER, Els, MÜLLER, Clemens R, PRATT, Victoria, WALLACE, Andrew
Published in European journal of human genetics : EJHG (01.12.2010)
Published in European journal of human genetics : EJHG (01.12.2010)
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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
Larsen, Mirjam, Rost, Simone, El Hajj, Nady, Ferbert, Andreas, Deschauer, Marcus, Walter, Maggie C, Schoser, Benedikt, Tacik, Pawel, Kress, Wolfram, Müller, Clemens R
Published in European journal of human genetics : EJHG (01.06.2015)
Published in European journal of human genetics : EJHG (01.06.2015)
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Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2
Oldenburg, Johannes, 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
Published in Nature (05.02.2004)
Published in Nature (05.02.2004)
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Human Vitamin K 2,3-Epoxide Reductase Complex Subunit 1-like 1 (VKORC1L1) Mediates Vitamin K-dependent Intracellular Antioxidant Function
Westhofen, Philipp, Watzka, Matthias, Marinova, Milka, Hass, Moritz, Kirfel, Gregor, Müller, Jens, Bevans, Carville G., Müller, Clemens R., Oldenburg, Johannes
Published in The Journal of biological chemistry (29.04.2011)
Published in The Journal of biological chemistry (29.04.2011)
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The genetic basis of resistance to anticoagulants in rodents
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
Published in Genetics (Austin) (01.08.2005)
Published in Genetics (Austin) (01.08.2005)
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Human VKORC1 mutations cause variable degrees of 4-hydroxycoumarin resistance and affect putative warfarin binding interfaces
Czogalla, Katrin J., Biswas, Arijit, Wendeln, Ann-Christin, Westhofen, Philipp, Müller, Clemens R., Watzka, Matthias, Oldenburg, Johannes
Published in Blood (10.10.2013)
Published in Blood (10.10.2013)
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Risk assessment and genetic counseling in families with Duchenne muscular dystrophy
Grimm, Tiemo, Kress, Wolfram, Meng, Gerhard, Müller, Clemens R
Published in Acta myologica (01.12.2012)
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Published in Acta myologica (01.12.2012)
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Site-directed mutagenesis of coumarin-type anticoagulant-sensitive VKORC1: evidence that highly conserved amino acids define structural requirements for enzymatic activity and inhibition by warfarin
Rost, Simone, Fregin, Andreas, Hünerberg, Mirja, Bevans, Carville G, Müller, Clemens R, Oldenburg, Johannes
Published in Thrombosis and haemostasis (01.10.2005)
Published in Thrombosis and haemostasis (01.10.2005)
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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 in immortalized lymphocytes
Ducreux, Sylvie, Zorzato, Francesco, Ferreiro, Ana, Jungbluth, Heinz, Muntoni, Francesco, Monnier, Nicole, Müller, Clemens R, Treves, Susan
Published in Biochemical journal (15.04.2006)
Published in Biochemical journal (15.04.2006)
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Journal Article
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 homeostasis
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
Published in Human molecular genetics (01.12.2001)
Published in Human molecular genetics (01.12.2001)
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Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication
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
Published in The journal of clinical endocrinology and metabolism (01.12.2018)
Published in The journal of clinical endocrinology and metabolism (01.12.2018)
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Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K–dependent clotting factors to the centromeric region of chromosome 16
Fregin, Andreas, Rost, Simone, Wolz, Werner, Krebsova, Alice, Muller, Clemens R., Oldenburg, Johannes
Published in Blood (01.11.2002)
Published in Blood (01.11.2002)
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How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy
Clemen, Christoph S., Fischer, Dirk, Reimann, Jens, Eichinger, Ludwig, Müller, Clemens R., Müller, Harald D., Goebel, Hans H., Schröder, Rolf
Published in Human mutation (01.03.2009)
Published in Human mutation (01.03.2009)
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Journal Article
Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test
Anetseder, Martin, Hager, Martin, Müller, Clemens R, Roewer, Norbert
Published in The Lancet (British edition) (04.05.2002)
Published in The Lancet (British edition) (04.05.2002)
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Journal Article
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor
Zorzato, Francesco, Yamaguchi, Naohiro, Xu, Le, Meissner, Gerhard, Müller, Clemens R., Pouliquin, Pierre, Muntoni, Francesco, Sewry, Caroline, Girard, Thierry, Treves, Susan
Published in Human molecular genetics (15.02.2003)
Published in Human molecular genetics (15.02.2003)
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Journal Article
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
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
Published in Breast cancer research : BCR (24.01.2018)
Published in Breast cancer research : BCR (24.01.2018)
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Novel mutations in the VKORC1 gene of wild rats and mice--a response to 50 years of selection pressure by warfarin?
Rost, Simone, Pelz, Hans-Joachim, Menzel, Sandra, MacNicoll, Alan D, León, Vanina, Song, Ki-Joon, Jäkel, Thomas, Oldenburg, Johannes, Müller, Clemens R
Published in BMC genetics (06.02.2009)
Published in BMC genetics (06.02.2009)
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Journal Article
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
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
Published in European journal of human genetics : EJHG (01.02.2014)
Published in European journal of human genetics : EJHG (01.02.2014)
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