Reduced expression of β-catenin inhibitor Chibby in colon carcinoma cell lines

le Schuierer, Marion M, Graf, Elisabeth, Takemaru, Ken-Ichi, Dietmaier, Wolfgang, Bosserhoff, Anja-Katrin
Foilsithe 2006

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

le Umair, Muhammad, Shah, Khadim, Alhaddad, Bader, Haack, Tobias B, Graf, Elisabeth, Strom, Tim M, Meitinger, Thomas, Ahmad, Wasim
Foilsithe in Eur J Hum Genet (2017)

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

le Jansen, Sandra, Aigner, Bernhard, Pausch, Hubert, Wysocki, Michal, Eck, Sebastian, Benet-Pagès, Anna, Graf, Elisabeth, Wieland, Thomas, Strom, Tim M, Meitinger, Thomas, Fries, Ruedi
Foilsithe 2013

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

le Brænne, Ingrid, Kleinecke, Mariana, Reiz, Benedikt, Graf, Elisabeth, Strom, Tim, Wieland, Thomas, Fischer, Marcus, Kessler, Thorsten, Hengstenberg, Christian, Meitinger, Thomas, Erdmann, Jeanette, Schunkert, Heribert
Foilsithe in Eur J Hum Genet (2016)

Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice

le Keipert, Susanne, Lutter, Dominik, Schroeder, Bjoern O., Brandt, Daniel, Ståhlman, Marcus, Schwarzmayr, Thomas, Graf, Elisabeth, Fuchs, Helmut, de Angelis, Martin Hrabe, Tschöp, Matthias H., Rozman, Jan, Jastroch, Martin
Foilsithe in Nat Commun (2020)

Author Correction: Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice

le Keipert, Susanne, Lutter, Dominik, Schroeder, Bjoern O., Brandt, Daniel, Ståhlman, Marcus, Schwarzmayr, Thomas, Graf, Elisabeth, Fuchs, Helmut, de Angelis, Martin Hrabe, Tschöp, Matthias H., Rozman, Jan, Jastroch, Martin
Foilsithe in Nat Commun (2021)

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy

le Iuso, Arcangela, Alhaddad, Bader, Weigel, Corina, Kotzaeridou, Urania, Mastantuono, Elisa, Schwarzmayr, Thomas, Graf, Elisabeth, Terrile, Caterina, Prokisch, Holger, Strom, Tim M., Hoffmann, Georg F., Meitinger, Thomas, Haack, Tobias B.
Foilsithe in JIMD Rep (2018)

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

le Auer-Grumbach, Michaela, Bode, Heiko, Pieber, Thomas R., Schabhüttl, Maria, Fischer, Dirk, Seidl, Rainer, Graf, Elisabeth, Wieland, Thomas, Schuh, Reinhard, Vacariu, Gerda, Grill, Franz, Timmerman, Vincent, Strom, Tim M., Hornemann, Thorsten
Foilsithe 2013

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

le Giehl, Kathrin A., Eckstein, Gertrud N., Pasternack, Sandra M., Praetzel-Wunder, Silke, Ruzicka, Thomas, Lichtner, Peter, Seidl, Kerstin, Rogers, Mike, Graf, Elisabeth, Langbein, Lutz, Braun-Falco, Markus, Betz, Regina C., Strom, Tim M.
Foilsithe 2012

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

le Danhauser, Katharina, Sauer, Sven W., Haack, Tobias B., Wieland, Thomas, Staufner, Christian, Graf, Elisabeth, Zschocke, Johannes, Strom, Tim M., Traub, Thorsten, Okun, Jürgen G., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger, Kölker, Stefan
Foilsithe 2012

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

le Abou Jamra, Rami, Philippe, Orianne, Raas-Rothschild, Annick, Eck, Sebastian H., Graf, Elisabeth, Buchert, Rebecca, Borck, Guntram, Ekici, Arif, Brockschmidt, Felix F., Nöthen, Markus M., Munnich, Arnold, Strom, Tim M., Reis, Andre, Colleaux, Laurence
Foilsithe 2011

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

le Haack, Tobias B., Makowski, Christine, Yao, Yoshiaki, Graf, Elisabeth, Hempel, Maja, Wieland, Thomas, Tauer, Ulrike, Ahting, Uwe, Mayr, Johannes A., Freisinger, Peter, Yoshimatsu, Hiroki, Inui, Ken, Strom, Tim M., Meitinger, Thomas, Yonezawa, Atsushi, Prokisch, Holger
Foilsithe 2012

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

le Beetz, Christian, Pieber, Thomas R., Hertel, Nicole, Schabhüttl, Maria, Fischer, Carina, Trajanoski, Slave, Graf, Elisabeth, Keiner, Silke, Kurth, Ingo, Wieland, Thomas, Varga, Rita-Eva, Timmerman, Vincent, Reilly, Mary M., Strom, Tim M., Auer-Grumbach, Michaela
Foilsithe 2012

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

le Winkelmann, Juliane, Lin, Ling, Schormair, Barbara, Kornum, Birgitte R., Faraco, Juliette, Plazzi, Giuseppe, Melberg, Atle, Cornelio, Ferdinando, Urban, Alexander E., Pizza, Fabio, Poli, Francesca, Grubert, Fabian, Wieland, Thomas, Graf, Elisabeth, Hallmayer, Joachim, Strom, Tim M., Mignot, Emmanuel
Foilsithe 2012

An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics

le Angelidis, Ilias, Simon, Lukas M., Fernandez, Isis E., Strunz, Maximilian, Mayr, Christoph H., Greiffo, Flavia R., Tsitsiridis, George, Ansari, Meshal, Graf, Elisabeth, Strom, Tim-Matthias, Nagendran, Monica, Desai, Tushar, Eickelberg, Oliver, Mann, Matthias, Theis, Fabian J., Schiller, Herbert B.
Foilsithe in Nat Commun (2019)

Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans

le Sachs, Stephan, Zarini, Simona, Kahn, Darcy E., Harrison, Kathleen A., Perreault, Leigh, Phang, Tzu, Newsom, Sean A., Strauss, Allison, Kerege, Anna, Schoen, Jonathan A., Bessesen, Daniel H., Schwarzmayr, Thomas, Graf, Elisabeth, Lutter, Dominik, Krumsiek, Jan, Hofmann, Susanna M., Bergman, Bryan C.
Foilsithe in Am J Physiol Endocrinol Metab (2019)

Rare Variants in PLXNA4 and Parkinson’s Disease

le Schulte, Eva C., Stahl, Immanuel, Czamara, Darina, Ellwanger, Daniel C., Eck, Sebastian, Graf, Elisabeth, Mollenhauer, Brit, Zimprich, Alexander, Lichtner, Peter, Haubenberger, Dietrich, Pirker, Walter, Brücke, Thomas, Bereznai, Benjamin, Molnar, Maria J., Peters, Annette, Gieger, Christian, Müller-Myhsok, Bertram, Trenkwalder, Claudia, Winkelmann, Juliane
Foilsithe 2013

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

le 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.
Foilsithe in Am J Hum Genet (2015)

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

le 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
Foilsithe 2012

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

le Kremer, Laura S., Distelmaier, Felix, Alhaddad, Bader, Hempel, Maja, Iuso, Arcangela, Küpper, Clemens, Mühlhausen, Chris, Kovacs-Nagy, Reka, Satanovskij, Robin, Graf, Elisabeth, Berutti, Riccardo, Eckstein, Gertrud, Durbin, Richard, Sauer, Sascha, Hoffmann, Georg F., Strom, Tim M., Santer, René, Meitinger, Thomas, Klopstock, Thomas, Prokisch, Holger, Haack, Tobias B.
Foilsithe in Am J Hum Genet (2016)