G. Eckstein

发表

Mapping the Genetic Architecture of Gene Regulation in Whole Blood

C. Gieger, M. Waldenberger, A. Peters, 2014, PloS one.

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

C. Gieger, W. Oertel, W. Poewe, 2008, Nature Genetics.

Genome-wide association study in European patients with congenital heart disease identifies risk loci for transposition of the great arteries and anomalies of the thoracic arteries and veins and expression of discovered candidate genes in the developing heart

R. Lange, J. Priest, T. Meitinger, 2020, bioRxiv.

Stimulation of soluble guanylyl cyclase (sGC) by riociguat attenuates heart failure and pathological cardiac remodelling

L. Kaderali, T. Meitinger, G. Eckstein, 2020, British journal of pharmacology.

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

M. Farrer, D. Maraganore, R. Krüger, 2017, Neurobiology of Aging.

Negative results Evaluation of the interaction between LRRK 2 and PARK 16 loci in determining risk of Parkinson ’ s disease : analysis of a large multicenter study

D. Maraganore, R. Krüger, C. Broeckhoven, 2022 .

Homozygous XYLT2 variants as a cause of spondyloocular syndrome

T. Meitinger, T. Strom, G. Eckstein, 2018, Clinical genetics.

Riociguat attenuates the changes in left ventricular proteome and microRNA profile after experimental aortic stenosis in mice

L. Kaderali, T. Meitinger, G. Eckstein, 2022, British journal of pharmacology.

Clonal Hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.

T. Meitinger, T. Strom, K. Götze, 2022, Human molecular genetics.

Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations

Christian Gieger, Thomas Meitinger, Nilesh Samani, 2009, Human molecular genetics.

Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.

G. Eckstein, R. Betz, T. Ruzicka, 2016, Acta dermato-venereologica.

Human skin-resident host T cells can persist long term after allogeneic stem cell transplantation and maintain recirculation potential

G. Eckstein, P. Lichtner, M. Verbeek, 2022, Science Immunology.

Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease

Christian Gieger, Dietrich Haubenberger, Thomas Meitinger, 2015, European Journal of Human Genetics.

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

T. Strom, M. Dichgans, G. Eckstein, 2005, The Lancet.

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

T. Strom, G. Eckstein, P. Lichtner, 2006, American journal of human genetics.

Genomic Heterogeneity of Osteosarcoma - Shift from Single Candidates to Functional Modules

G. Eckstein, D. Baumhoer, M. Nathrath, 2015, PloS one.

Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood

Christian Gieger, Thomas Meitinger, Uwe Völker, 2012, European Journal of Human Genetics.

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

Christian Gieger, Thomas Meitinger, Walter Paulus, 2007, Nature Genetics.

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.

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

R. Durbin, T. Meitinger, T. Strom, 2016, American journal of human genetics.

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing

T. Meitinger, G. Eckstein, F. Zimprich, 2019, Neurology: Genetics.

Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

T. Meitinger, T. Strom, H. Prokisch, 2019, Journal of inherited metabolic disease.

Investigation of gamma secretase gene complex mutations in German population with Hidradenitis suppurativa designate a complex polygenic heritage

G. Eckstein, P. Lichtner, G. Plewig, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33.

T. Meitinger, T. Strom, G. Eckstein, 2004, The Journal of investigative dermatology.

Congenital heart disease risk loci identified by genome-wide association study in European patients.

R. Lange, J. Priest, T. Meitinger, 2020, The Journal of clinical investigation.

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

T. Strom, G. Eckstein, P. Lichtner, 2012, American journal of human genetics.

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

M. Farrer, D. Maraganore, A. Deutschländer, 2015, Neurology.