Genotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome

por Kamme, Christina, Mayer, Anja Kathrin, Strom, Tim M., Andréasson, Sten, Weisschuh, Nicole
Publicado 2016

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

por Kolarova, Hana, Tan, Jing, Strom, Tim M., Meitinger, Thomas, Wagner, Matias, Klopstock, Thomas
Publicado 2022

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing

por Rath, Matthias, Spiegler, Stefanie, Strom, Tim M., Trenkler, Johannes, Kroisel, Peter Michael, Felbor, Ute
Publicado 2018

Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery

por Eck, Sebastian H, Benet-Pagès, Anna, Flisikowski, Krzysztof, Meitinger, Thomas, Fries, Ruedi, Strom, Tim M
Publicado 2009

Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken

por Ni, Guiyan, Strom, Tim M., Pausch, Hubert, Reimer, Christian, Preisinger, Rudolf, Simianer, Henner, Erbe, Malena
Publicado 2015

Classic Selective Sweeps Revealed by Massive Sequencing in Cattle

por Qanbari, Saber, Pausch, Hubert, Jansen, Sandra, Somel, Mehmet, Strom, Tim M., Fries, Ruedi, Nielsen, Rasmus, Simianer, Henner
Publicado 2014

Genomic factors related to tissue tropism in Chlamydia pneumoniae infection

por Weinmaier, Thomas, Hoser, Jonathan, Eck, Sebastian, Kaufhold, Inga, Shima, Kensuke, Strom, Tim M, Rattei, Thomas, Rupp, Jan
Publicado 2015

SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities

por Zech, Michael, Poustka, Katharina, Boesch, Sylvia, Berutti, Riccardo, Strom, Tim M., Grisold, Wolfgang, Poewe, Werner, Winkelmann, Juliane
Publicado 2017

CpG-Methylation Regulates a Class of Epstein-Barr Virus Promoters

por Bergbauer, Martin, Kalla, Markus, Schmeinck, Anne, Göbel, Christine, Rothbauer, Ulrich, Eck, Sebastian, Benet-Pagès, Anna, Strom, Tim M., Hammerschmidt, Wolfgang
Publicado 2010

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

por Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Publicado 2020

Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730]

por Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Publicado 2020

Time- and compartment-resolved proteome profiling of the extracellular niche in lung injury and repair

por Schiller, Herbert B, Fernandez, Isis E, Burgstaller, Gerald, Schaab, Christoph, Scheltema, Richard A, Schwarzmayr, Thomas, Strom, Tim M, Eickelberg, Oliver, Mann, Matthias
Publicado 2015

A High Resolution Genome-Wide Scan for Significant Selective Sweeps: An Application to Pooled Sequence Data in Laying Chickens

por Qanbari, Saber, Strom, Tim M., Haberer, Georg, Weigend, Steffen, Gheyas, Almas A., Turner, Frances, Burt, David W., Preisinger, Rudolf, Gianola, Daniel, Simianer, Henner
Publicado 2012

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

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

Overexpression of UHRF1 promotes silencing of tumor suppressor genes and predicts outcome in hepatoblastoma

por Beck, Alexander, Trippel, Franziska, Wagner, Alexandra, Joppien, Saskia, Felle, Max, Vokuhl, Christian, Schwarzmayr, Thomas, Strom, Tim M., von Schweinitz, Dietrich, Längst, Gernot, Kappler, Roland
Publicado 2018

A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder

por Zech, Michael, Lam, Daniel D., Weber, Sandrina, Berutti, Riccardo, Poláková, Kamila, Havránková, Petra, Fečíková, Anna, Strom, Tim M., Růžička, Evžen, Jech, Robert, Winkelmann, Juliane
Publicado 2018

Human RAD50 deficiency: Confirmation of a distinctive phenotype

por Ragamin, Aviël, Yigit, Gökhan, Bousset, Kristine, Beleggia, Filippo, Verheijen, Frans W., de Wit, Marie‐Claire Y., Strom, Tim M., Dörk, Thilo, Wollnik, Bernd, Mancini, Grazia M. S.
Publicado 2020

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

por Daniil, Georgios, Fernandes-Rosa, Fabio L, Chemin, Jean, Blesneac, Iulia, Beltrand, Jacques, Polak, Michel, Jeunemaitre, Xavier, Boulkroun, Sheerazed, Amar, Laurence, Strom, Tim M, Lory, Philippe, Zennaro, Maria-Christina
Publicado 2016

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

por 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
Publicado 2013

A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array

por Unterseer, Sandra, Bauer, Eva, Haberer, Georg, Seidel, Michael, Knaak, Carsten, Ouzunova, Milena, Meitinger, Thomas, Strom, Tim M, Fries, Ruedi, Pausch, Hubert, Bertani, Christofer, Davassi, Alessandro, Mayer, Klaus FX, Schön, Chris-Carolin
Publicado 2014