Classic selective sweeps revealed by massive sequencing in cattle
Qanbari, Saber, Pausch, Hubert, Jansen, Sandra, Somel, Mehmet, Strom, Tim M, Fries, Ruedi, Nielsen, Rasmus, Simianer, Henner
Published in PLoS genetics (01.02.2014)
Published in PLoS genetics (01.02.2014)
Get full text
Journal Article
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
Zech, Michael, Boesch, Sylvia, Maier, Esther M., Borggraefe, Ingo, Vill, Katharina, Laccone, Franco, Pilshofer, Veronika, Ceballos-Baumann, Andres, Alhaddad, Bader, Berutti, Riccardo, Poewe, Werner, Haack, Tobias B., Haslinger, Bernhard, Strom, Tim M., Winkelmann, Juliane
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
Get full text
Journal Article
Genetic diagnosis of Mendelian disorders via RNA sequencing
Kremer, Laura S., Bader, Daniel M., Mertes, Christian, Kopajtich, Robert, Pichler, Garwin, Iuso, Arcangela, Haack, Tobias B., Graf, Elisabeth, Schwarzmayr, Thomas, Terrile, Caterina, Koňaříková, Eliška, Repp, Birgit, Kastenmüller, Gabi, Adamski, Jerzy, Lichtner, Peter, Leonhardt, Christoph, Funalot, Benoit, Donati, Alice, Tiranti, Valeria, Lombes, Anne, Jardel, Claude, Gläser, Dieter, Taylor, Robert W., Ghezzi, Daniele, Mayr, Johannes A., Rötig, Agnes, Freisinger, Peter, Distelmaier, Felix, Strom, Tim M., Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Published in Nature communications (12.06.2017)
Published in Nature communications (12.06.2017)
Get full text
Journal Article
Time‐ and compartment‐resolved proteome profiling of the extracellular niche in lung injury and repair
Schiller, Herbert B, Fernandez, Isis E, Burgstaller, Gerald, Schaab, Christoph, Scheltema, Richard A, Schwarzmayr, Thomas, Strom, Tim M, Eickelberg, Oliver, Mann, Matthias
Published in Molecular systems biology (01.07.2015)
Published in Molecular systems biology (01.07.2015)
Get full text
Journal Article
A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
Fernandes-Rosa, Fabio L., Daniil, Georgios, Orozco, Ian J., Göppner, Corinna, El Zein, Rami, Jain, Vandana, Boulkroun, Sheerazed, Jeunemaitre, Xavier, Amar, Laurence, Lefebvre, Hervé, Schwarzmayr, Thomas, Strom, Tim M., Jentsch, Thomas J., Zennaro, Maria-Christina
Published in Nature genetics (01.03.2018)
Published in Nature genetics (01.03.2018)
Get full text
Journal Article
Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets
Lorenz-Depiereux, Bettina, Schnabel, Dirk, Tiosano, Dov, Häusler, Gabriele, Strom, Tim M.
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
Get full text
Journal Article
Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
Ghezzi, Daniele, Baruffini, Enrico, Haack, Tobias B., Invernizzi, Federica, Melchionda, Laura, Dallabona, Cristina, Strom, Tim M., Parini, Rossella, Burlina, Alberto B., Meitinger, Thomas, Prokisch, Holger, Ferrero, Ileana, Zeviani, Massimo
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
Get full text
Journal Article
Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma
Fernandes-Rosa, Fabio Luiz, Williams, Tracy Ann, Riester, Anna, Steichen, Olivier, Beuschlein, Felix, Boulkroun, Sheerazed, Strom, Tim M, Monticone, Silvia, Amar, Laurence, Meatchi, Tchao, Mantero, Franco, Cicala, Maria-Verena, Quinkler, Marcus, Fallo, Francesco, Allolio, Bruno, Bernini, Giampaolo, Maccario, Mauro, Giacchetti, Gilberta, Jeunemaitre, Xavier, Mulatero, Paolo, Reincke, Martin, Zennaro, Maria-Christina
Published in Hypertension (Dallas, Tex. 1979) (01.08.2014)
Published in Hypertension (Dallas, Tex. 1979) (01.08.2014)
Get full text
Journal Article
Biallelic mutations of the methionyl-tRNA synthetase (MARS) cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island
Hadchouel, Alice, Wieland, Thomas, Griese, Matthias, Baruffini, Enrico, Lorenz-Depiereux, Bettina, Enaud, Laurent, Graf, Elisabeth, Dubus, Jean Christophe, Halioui-Louhaichi, Sonia, Coulomb, Aurore, Delacourt, Christophe, Eckstein, Gertrud, Zarbock, Ralf, Schwarzmayr, Thomas, Cartault, François, Meitinger, Thomas, Lodi, Tiziana, de Blic, Jacques, Strom, Tim M.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
Get full text
Journal Article
Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome
Beuschlein, Felix, Fassnacht, Martin, Assié, Guillaume, Calebiro, Davide, Stratakis, Constantine A, Osswald, Andrea, Ronchi, Cristina L, Wieland, Thomas, Sbiera, Silviu, Faucz, Fabio R, Schaak, Katrin, Schmittfull, Anett, Schwarzmayr, Thomas, Barreau, Olivia, Vezzosi, Delphine, Rizk-Rabin, Marthe, Zabel, Ulrike, Szarek, Eva, Salpea, Paraskevi, Forlino, Antonella, Vetro, Annalisa, Zuffardi, Orsetta, Kisker, Caroline, Diener, Susanne, Meitinger, Thomas, Lohse, Martin J, Reincke, Martin, Bertherat, Jérome, Strom, Tim M, Allolio, Bruno
Published in The New England journal of medicine (13.03.2014)
Published in The New England journal of medicine (13.03.2014)
Get full text
Journal Article
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension
Beuschlein, Felix, Boulkroun, Sheerazed, Osswald, Andrea, Wieland, Thomas, Nielsen, Hang N, Lichtenauer, Urs D, Penton, David, Schack, Vivien R, Amar, Laurence, Fischer, Evelyn, Walther, Anett, Tauber, Philipp, Schwarzmayr, Thomas, Diener, Susanne, Graf, Elisabeth, Allolio, Bruno, Samson-Couterie, Benoit, Benecke, Arndt, Quinkler, Marcus, Fallo, Francesco, Plouin, Pierre-Francois, Mantero, Franco, Meitinger, Thomas, Mulatero, Paolo, Jeunemaitre, Xavier, Warth, Richard, Vilsen, Bente, Zennaro, Maria-Christina, Strom, Tim M, Reincke, Martin
Published in Nature genetics (01.04.2013)
Published in Nature genetics (01.04.2013)
Get full text
Journal Article
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
Zimprich, Alexander, Benet-Pagès, Anna, Struhal, Walter, Graf, Elisabeth, Eck, Sebastian H., Offman, Marc N., Haubenberger, Dietrich, Spielberger, Sabine, Schulte, Eva C., Lichtner, Peter, Rossle, Shaila C., Klopp, Norman, Wolf, Elisabeth, Seppi, Klaus, Pirker, Walter, Presslauer, Stefan, Mollenhauer, Brit, Katzenschlager, Regina, Foki, Thomas, Hotzy, Christoph, Reinthaler, Eva, Harutyunyan, Ashot, Kralovics, Robert, Peters, Annette, Zimprich, Fritz, Brücke, Thomas, Poewe, Werner, Auff, Eduard, Trenkwalder, Claudia, Rost, Burkhard, Ransmayr, Gerhard, Winkelmann, Juliane, Meitinger, Thomas, Strom, Tim M.
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
Get full text
Journal Article
Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up
Zech, Michael, Boesch, Sylvia, Jochim, Angela, Weber, Sandrina, Meindl, Tobias, Schormair, Barbara, Wieland, Thomas, Lunetta, Christian, Sansone, Valeria, Messner, Michael, Mueller, Joerg, Ceballos‐Baumann, Andres, Strom, Tim M., Colombo, Roberto, Poewe, Werner, Haslinger, Bernhard, Winkelmann, Juliane
Published in Movement disorders (01.04.2017)
Published in Movement disorders (01.04.2017)
Get full text
Journal Article
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Oates, Emily C., Rossor, Alexander M., Hafezparast, Majid, Gonzalez, Michael, Speziani, Fiorella, MacArthur, Daniel G., Lek, Monkol, Cottenie, Ellen, Scoto, Mariacristina, Foley, A. Reghan, Hurles, Matthew, Houlden, Henry, Greensmith, Linda, Auer-Grumbach, Michaela, Pieber, Thomas R., Strom, Tim M., Schule, Rebecca, Herrmann, David N., Sowden, Janet E., Acsadi, Gyula, Menezes, Manoj P., Clarke, Nigel F., Züchner, Stephan, Muntoni, Francesco, North, Kathryn N., Reilly, Mary M.
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
Get full text
Journal Article
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
JAMRA, Rami Abou, PHILIPPE, Orianne, MUNNICH, Arnold, STROM, Tim M, REIS, Andre, COLLEAUX, Laurence, RAAS-ROTHSCHILD, Annick, ECK, Sebastian H, GRAF, Elisabeth, BUCHERT, Rebecca, BORCK, Guntram, EKICI, Arif, BROCKSCHMIDT, Felix F, NÖTHEN, Markus M
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
Get full text
Journal Article
Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
Hartig, Monika B., Iuso, Arcangela, Haack, Tobias, Kmiec, Tomasz, Jurkiewicz, Elzbieta, Heim, Katharina, Roeber, Sigrun, Tarabin, Victoria, Dusi, Sabrina, Krajewska-Walasek, Malgorzata, Jozwiak, Sergiusz, Hempel, Maja, Winkelmann, Juliane, Elstner, Matthias, Oexle, Konrad, Klopstock, Thomas, Mueller-Felber, Wolfgang, Gasser, Thomas, Trenkwalder, Claudia, Tiranti, Valeria, Kretzschmar, Hans, Schmitz, Gerd, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger
Published in American journal of human genetics (07.10.2011)
Published in American journal of human genetics (07.10.2011)
Get full text
Journal Article
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
Kremer, Laura S., Danhauser, Katharina, Herebian, Diran, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B., Płoski, Rafał, Lohmeier, Klaus, Schneider, Dominik, Klee, Dirk, Rokicki, Dariusz, Mayatepek, Ertan, Strom, Tim M., Meitinger, Thomas, Klopstock, Thomas, Pronicka, Ewa, Mayr, Johannes A., Baric, Ivo, Distelmaier, Felix, Prokisch, Holger
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
Get full text
Journal Article
Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease
Wagner, Matias, Berutti, Riccardo, Lorenz‐Depiereux, Bettina, Graf, Elisabeth, Eckstein, Gertrud, Mayr, Johannes A., Meitinger, Thomas, Ahting, Uwe, Prokisch, Holger, Strom, Tim M., Wortmann, Saskia B.
Published in Journal of inherited metabolic disease (01.09.2019)
Published in Journal of inherited metabolic disease (01.09.2019)
Get full text
Journal Article
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
Mayr, Johannes A., Haack, Tobias B., Graf, Elisabeth, Zimmermann, Franz A., Wieland, Thomas, Haberberger, Birgit, Superti-Furga, Andrea, Kirschner, Janbernd, Steinmann, Beat, Baumgartner, Matthias R., Moroni, Isabella, Lamantea, Eleonora, Zeviani, Massimo, Rodenburg, Richard J., Smeitink, Jan, Strom, Tim M., Meitinger, Thomas, Sperl, Wolfgang, Prokisch, Holger
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
Get full text
Journal Article
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
Brunet, Theresa, Jech, Robert, Brugger, Melanie, Kovacs, Reka, Alhaddad, Bader, Leszinski, Gloria, Riedhammer, Korbinian M., Westphal, Dominik S., Mahle, Isabella, Mayerhanser, Katharina, Skorvanek, Matej, Weber, Sandrina, Graf, Elisabeth, Berutti, Riccardo, Necpál, Ján, Havránková, Petra, Pavelekova, Petra, Hempel, Maja, Kotzaeridou, Urania, Hoffmann, Georg F., Leiz, Steffen, Makowski, Christine, Roser, Timo, Schroeder, Sebastian A., Steinfeld, Robert, Strobl‐Wildemann, Gertrud, Hoefele, Julia, Borggraefe, Ingo, Distelmaier, Felix, Strom, Tim M., Winkelmann, Juliane, Meitinger, Thomas, Zech, Michael, Wagner, Matias
Published in Clinical genetics (01.07.2021)
Published in Clinical genetics (01.07.2021)
Get full text
Journal Article