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Author Details

Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
1982
595
134
PMIDPaper TitleJournal TitlePublished Year
37924258De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.Genet Med2024
37924258De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.Genet Med2024
37976411Genetic landscape of pediatric acute liver failure of indeterminate origin.Hepatology2024
37976411Genetic landscape of pediatric acute liver failure of indeterminate origin.Hepatology2024
36189577The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.Clin Genet2023
36189577The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.Clin Genet2023
38028628Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci.Front Genet2023
37034649Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications.medRxiv2023
36993625Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).medRxiv2023
36922632Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.Eur J Hum Genet2023
36787739Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.Am J Hum Genet2023
37503126Understanding the genetic complexity of puberty timing across the allele frequency spectrum.medRxiv2023
37495887Circulating metabolites modulated by diet are associated with depression.Mol Psychiatry2023
38028628Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci.Front Genet2023
37503126Understanding the genetic complexity of puberty timing across the allele frequency spectrum.medRxiv2023
37495887Circulating metabolites modulated by diet are associated with depression.Mol Psychiatry2023
36993625Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).medRxiv2023
37034649Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications.medRxiv2023
36922632Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.Eur J Hum Genet2023
36787739Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.Am J Hum Genet2023
34590685Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.Brain2022
36245711High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.Front Pediatr2022
35512351Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.Hum Mol Genet2022
35697829Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.Commun Biol2022
35751875Riociguat attenuates the changes in left ventricular proteome and microRNA profile after experimental aortic stenosis in mice.Br J Pharmacol2022
35379322Clinical implementation of RNA sequencing for Mendelian disease diagnostics.Genome Med2022
36341250Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.Front Med (Lausanne)2022
35551307Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.Nat Genet2022
35474353Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.Eur J Hum Genet2022
36117978The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.Front Med (Lausanne)2022
36050321Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.Nat Commun2022
33878186Cis-epistasis at the LPA locus and risk of cardiovascular diseases.Cardiovasc Res2022
34990470Association of circulating MR-proADM with all-cause and cardiovascular mortality in the general population: Results from the KORA F4 cohort study.PLoS One2022
35234888Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.Hum Mol Genet2022
35217655Author Correction: Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis.Nat Commun2022
35180557Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.EBioMedicine2022
35179199Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.Hum Mol Genet2022
35165720Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.Eur J Public Health2022
35017523MicroRNA-365 regulates human cardiac action potential duration.Nat Commun2022
35013273Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis.Nat Commun2022
34886679Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.Circ Res2022
34590685Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.Brain2022
35086943Association of renin and aldosterone with glucose metabolism in a Western European population: the KORA F4/FF4 study.BMJ Open Diabetes Res Care2022
35551307Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.Nat Genet2022
35512351Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.Hum Mol Genet2022
35474353Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.Eur J Hum Genet2022
35379322Clinical implementation of RNA sequencing for Mendelian disease diagnostics.Genome Med2022
35697829Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.Commun Biol2022
35751875Riociguat attenuates the changes in left ventricular proteome and microRNA profile after experimental aortic stenosis in mice.Br J Pharmacol2022
36341250Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.Front Med (Lausanne)2022
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German Research Center for Cardiovascular Disease (DZHK)
Co-authored papers 140
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Co-authored papers 106
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Co-authored papers 99
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Andr?? G Uitterlinden
Erasmus University Medical Center
Co-authored papers 82
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University of Oxford
Co-authored papers 76
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Igor Rudan
Co-authored papers 56
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Co-authored papers 55
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King's College London
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Peter P Pramstaller
Co-authored papers 48
Ruth J F Loos
Co-authored papers 47
Olli T Raitakari
Co-authored papers 46
Vilmundur Gudnason
Co-authored papers 46
Nilesh J Samani
Co-authored papers 46
Martina M??ller-Nurasyid
Institute for Medical Information Processing
Co-authored papers 46
Ozren Polasek
Co-authored papers 45
Fernando Rivadeneira
University Medical Center Rotterdam
Co-authored papers 44
Jerome I Rotter
Co-authored papers 44
Albert V Smith
University of Michigan School of Public Health ann arbor
Co-authored papers 43
Veikko Salomaa
Co-authored papers 43
Release 1.2