Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

द्वारा Beygo, Jasmin, Bürger, Joachim, Strom, Tim M., Kaya, Sabine, Buiting, Karin
में प्रकाशित Eur J Hum Genet (2019)

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

द्वारा Lorenz-Depiereux, Bettina, Schnabel, Dirk, Tiosano, Dov, Häusler, Gabriele, Strom, Tim M.
प्रकाशित 2010

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

द्वारा Kamme, Christina, Mayer, Anja Kathrin, Strom, Tim M., Andréasson, Sten, Weisschuh, Nicole
में प्रकाशित Acta Ophthalmol (2016)

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

द्वारा Rath, Matthias, Spiegler, Stefanie, Strom, Tim M., Trenkler, Johannes, Kroisel, Peter Michael, Felbor, Ute
में प्रकाशित Am J Med Genet A (2018)

A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India

द्वारा Dayal, Devi, Gupta, Shruti, Kumar, Rakesh, Srinivasan, Radhika, Lorenz-Depiereux, Bettina, Strom, Tim M
में प्रकाशित Intractable Rare Dis Res (2021)

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

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

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

द्वारा Ni, Guiyan, Strom, Tim M., Pausch, Hubert, Reimer, Christian, Preisinger, Rudolf, Simianer, Henner, Erbe, Malena
में प्रकाशित BMC Genomics (2015)

Parallel Selection Revealed by Population Sequencing in Chicken

द्वारा Qanbari, Saber, Seidel, Michael, Strom, Tim-Mathias, Mayer, Klaus F.X., Preisinger, Ruedi, Simianer, Henner
में प्रकाशित Genome Biol Evol (2015)

Acute Stanford type B aortic dissection—who benefits from genetic testing?

द्वारा Erhart, Philipp, Gieldon, Laura, Ante, Marius, Körfer, Daniel, Strom, Tim, Grond-Ginsbach, Caspar, Böckler, Dittmar
में प्रकाशित J Thorac Dis (2020)

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation

द्वारा Mayer, Anja K, Rohrschneider, Klaus, Strom, Tim M, Glöckle, Nicola, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole
में प्रकाशित Eur J Hum Genet (2016)

Classic Selective Sweeps Revealed by Massive Sequencing in Cattle

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

Genomic factors related to tissue tropism in Chlamydia pneumoniae infection

द्वारा Weinmaier, Thomas, Hoser, Jonathan, Eck, Sebastian, Kaufhold, Inga, Shima, Kensuke, Strom, Tim M, Rattei, Thomas, Rupp, Jan
में प्रकाशित BMC Genomics (2015)

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

द्वारा Zech, Michael, Poustka, Katharina, Boesch, Sylvia, Berutti, Riccardo, Strom, Tim M., Grisold, Wolfgang, Poewe, Werner, Winkelmann, Juliane
में प्रकाशित Case Rep Genet (2017)

A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy

द्वारा Brugger, Melanie, Becker‐Dettling, Fiona, Brunet, Theresa, Strom, Tim, Meitinger, Thomas, Lurz, Eberhard, Borggraefe, Ingo, Wagner, Matias
में प्रकाशित Ann Clin Transl Neurol (2020)

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

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

Rare genetic variants in patients with cervical artery dissection

द्वारा Traenka, Christopher, Kloss, Manja, Strom, Tim, Lyrer, Philippe, Brandt, Tobias, Bonati, Leo H, Grond-Ginsbach, Caspar, Engelter, Stefan
में प्रकाशित Eur Stroke J (2019)

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

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

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

द्वारा Beygo, Jasmin, Joksic, Ivana, Strom, Tim M, Lüdecke, Hermann-Josef, Kolarova, Julia, Siebert, Reiner, Mikovic, Zeljko, Horsthemke, Bernhard, Buiting, Karin
में प्रकाशित Eur J Hum Genet (2016)

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

द्वारा Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
में प्रकाशित eBioMedicine (2020)

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

द्वारा Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
में प्रकाशित EBioMedicine (2020)