T. Schwarzmayr

发表

Transcriptome and genome sequencing uncovers functional variation in humans

Pedro G. Ferreira, M. Pirinen, P. Donnelly, 2013, Nature.

The genetic architecture of type 2 diabetes

Stephen C. J. Parker, Taylor J. Maxwell, Mauricio O. Carneiro, 2016, Nature.

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

D. Horn, T. Wieland, E. Schröck, 2012, The Lancet.

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

Mauricio O. Carneiro, Tanya M. Teslovich, Kyle J. Gaulton, 2017, Diabetes.

Characterization of circular RNAs in human, mouse and rat hearts.

T. Meitinger, T. Strom, T. Schwarzmayr, 2016, Journal of molecular and cellular cardiology.

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

T. Wieland, J. Hardy, T. Meitinger, 2012, American journal of human genetics.

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

T. Wieland, T. Strom, V. Tiranti, 2014, American journal of human genetics.

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

Oliver Eickelberg, Matthias Mann, Richard A Scheltema, 2015 .

Genetic diagnosis of Mendelian disorders via RNA sequencing

Thomas Meitinger, Gabi Kastenmüller, Jerzy Adamski, 2017, Nature Communications.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Robert W. Taylor, Daniel M Bader, J. Gagneur, 2017, Nature Communications.

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

T. Meitinger, T. Strom, H. Prokisch, 2019, JIMD reports.

Imaging neuronal loss and recovery in compromised but viable brain tissue

T. Schwarzmayr, R. Horvath, P. Ra, 2022 .

Adaptive mitochondrial regulation of the proteasome

H. Prokisch, H. Zischka, T. Schwarzmayr, 2020, bioRxiv.

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

T. Meitinger, T. Strom, H. Prokisch, 2018, American journal of human genetics.

Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas.

R. Paschke, T. Strom, T. Schwarzmayr, 2016, The Journal of clinical investigation.

Epstein–Barr virus reprograms human B lymphocytes immediately in the prelatent phase of infection

A. Scialdone, T. Schwarzmayr, W. Hammerschmidt, 2018, Proceedings of the National Academy of Sciences.

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.

T. Wieland, T. Meitinger, T. Strom, 2014, The New England journal of medicine.

Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.

T. Strom, T. Schwarzmayr, F. Beuschlein, 2016, The Journal of clinical endocrinology and metabolism.

Intermuscular adipose tissue (IMAT) directly modulates 1 skeletal muscle insulin sensitivity in humans 2

Tzulip Phang, T. Schwarzmayr, B. Bergman, 2018 .

The genetic architecture of type 2 diabetes

Stephen C. J. Parker, Taylor J. Maxwell, Mauricio O. Carneiro, 2016, Nature.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

T. Meitinger, T. Strom, H. Prokisch, 2016, American journal of human genetics.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

Long-term functional and structural preservation of precision-cut human myocardium under continuous electromechanical stimulation in vitro

T. Schwarzmayr, Xiaochun Cao-Ehlker, H. Milting, 2019, Nature Communications.

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

R. Schüle, R. Boostani, T. Schwarzmayr, 2019, Nature Communications.

Molecular signaling pathways in right ventricular impairment of adult patients after tetralogy of Fallot repair.

T. Schwarzmayr, C. Wolf, P. Ewert, 2021, Cardiovascular diagnosis and therapy.

PRKACA Somatic Mutations Are Rare Findings in Aldosterone-Producing Adenomas.

T. Strom, T. Schwarzmayr, F. Beuschlein, 2016, The Journal of clinical endocrinology and metabolism.

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

P. Bénit, V. Tiranti, H. Prokisch, 2019, Orphanet Journal of Rare Diseases.

Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures

T. Strom, T. Schwarzmayr, G. Gillessen‐kaesbach, 2014, American journal of medical genetics. Part A.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

T. Wieland, T. Strom, A. Schlessinger, 2014, European Journal of Human Genetics.

Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas.

T. Strom, J. Honegger, T. Schwarzmayr, 2016, European journal of endocrinology.

Assembly and Analysis of Next-Generation Sequencing Data

Thomas Schwarzmayr, T. Schwarzmayr, 2017 .

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia

Gerhard K. H. Przemeck, H. Fuchs, T. Wieland, 2016, Mammalian Genome.

SP8 Promotes an Aggressive Phenotype in Hepatoblastoma via FGF8 Activation

T. Schwarzmayr, D. V. von Schweinitz, R. Kappler, 2020, Cancers.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of human genetics.

The genomic landscape of hepatoblastoma and their progenies with HCC-like features.

T. Strom, S. Cairo, T. Schwarzmayr, 2014, Journal of hepatology.

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

C. Delacourt, T. Wieland, T. Meitinger, 2015, American journal of human genetics.

Maintenance of epithelial traits and resistance to mesenchymal reprogramming promote proliferation in metastatic breast cancer

A. Schneeweiss, S. Haas, A. Trumpp, 2020, bioRxiv.

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

H. Fuchs, T. Schwarzmayr, M. Tschöp, 2020, Nature Communications.

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.

T. Strom, T. Schwarzmayr, E. Watrin, 2020, Cell reports.

MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL

T. Strom, T. Schwarzmayr, E. Watrin, 2018, bioRxiv.

Long-Term Cold Adaptation Does Not Require FGF21 or UCP1.

T. Schwarzmayr, M. Tschöp, F. Neff, 2017, Cell metabolism.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

Mitochondrial Regulation of the 26S Proteasome.

H. Prokisch, H. Zischka, T. Schwarzmayr, 2020, Cell reports.

Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas.

T. Wieland, T. Meitinger, T. Strom, 2015, The Journal of clinical endocrinology and metabolism.

Epstein-Barr virus reprograms human B-lymphocytes immediately in the pre-latent phase of infection

A. Scialdone, T. Schwarzmayr, W. Hammerschmidt, 2018 .

A macrophage-hepatocyte glucocorticoid receptor axis coordinates fasting ketogenesis.

A. Feuchtinger, T. Schwarzmayr, S. Herzig, 2022, Cell metabolism.

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

T. Strom, G. Längst, T. Schwarzmayr, 2018, Clinical Epigenetics.

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

T. Meitinger, T. Strom, A. Schulz, 2017, European Journal of Human Genetics.

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

T. Wieland, T. Meitinger, T. Strom, 2013, Nature Genetics.

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

T. Strom, B. Gener, T. Schwarzmayr, 2014, Clinical genetics.

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia

Gerhard K. H. Przemeck, H. Fuchs, T. Wieland, 2016, Mammalian Genome.

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

Thomas J. Jentsch, Maria-Christina Zennaro, Tim M. Strom, 2018, Nature Genetics.

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

H. Fuchs, T. Schwarzmayr, M. Tschöp, 2021, Nature Communications.

Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome

J. Seidman, T. Schwarzmayr, C. Seidman, 2021, iScience.

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Taesung Park, Christian Gieger, Tien Yin Wong, 2017, Scientific Data.

Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans.

Tzulip Phang, T. Schwarzmayr, B. Bergman, 2019, American journal of physiology. Endocrinology and metabolism.