Thomas Meitinger

Q: What Schools Are Affiliated With Thomas Meitinger

Thomas Meitinger is affiliated with the following schools: Boston University, University of Pavia, McMaster University, Technical University of Munich, University of Helsinki

Thomas Meitinger's AcademicInfluence.com Rankings

Thomas Meitinger

Biology

#7677

World Rank

#10632

Historical Rank

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Biology

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Thomas Meitinger's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids (2010) (3485)
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology (2004) (2782)
Genomewide association analysis of coronary artery disease. (2007) (2067)
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index (2010) (2011)
Hundreds of variants clustered in genomic loci and biological pathways affect human height (2010) (1961)
Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk (2011) (1928)
Defining the role of common variation in the genomic and biological architecture of adult human height (2014) (1805)
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2010) (1801)
Transcriptome and genome sequencing uncovers functional variation in humans (2013) (1758)
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation (2009) (1735)
Systematic identification of trans eQTLs as putative drivers of known disease associations (2013) (1593)
A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease (2015) (1567)
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23 (2000) (1386)
Genome-wide association study identifies eight loci associated with blood pressure (2009) (1225)
Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index (2010) (1179)
Genome-wide association study identifies 74 loci associated with educational attainment (2016) (1114)
The DNA sequence of the human X chromosome (2005) (1072)
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (1028)
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets (1995) (1005)
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study (2012) (954)
Human metabolic individuality in biomedical and pharmaceutical research (2011) (929)
The genetic architecture of type 2 diabetes (2016) (927)
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts (2009) (909)
Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment (2004) (908)
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2010) (897)
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease (2011) (894)
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita (1994) (835)
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. (2014) (799)
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. (2011) (778)
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism (1994) (759)
Seven New Loci Associated with Age-Related Macular Degeneration (2013) (741)
A Common Genetic Variant Is Associated with Adult and Childhood Obesity (2006) (739)
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries (2018) (735)
Genome-wide, large-scale production of mutant mice by ENU mutagenesis (2000) (696)
Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum (2008) (691)
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions (2007) (657)
A genome-wide perspective of genetic variation in human metabolism (2010) (639)
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia (2015) (637)
Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity (2016) (634)
Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations (2009) (617)
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. (2006) (604)
Novel biomarkers for pre-diabetes identified by metabolomics (2012) (587)
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. (2000) (587)
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans (2017) (547)
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization (2006) (537)
Meta-analysis identifies six new susceptibility loci for atrial fibrillation (2012) (535)
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk (2005) (534)
Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (516)
Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance (2010) (515)
New susceptibility locus for coronary artery disease on chromosome 3q22.3 (2009) (510)
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. (1998) (497)
The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity. (2006) (488)
Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease (2009) (484)
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness (1998) (480)
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3) (1996) (477)
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. (1998) (465)
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension (2013) (464)
Common Variants in KCNN3 are Associated with Lone Atrial Fibrillation (2010) (454)
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. (2005) (443)
Genetic Structure of Europeans: A View from the North–East (2009) (437)
Genome-wide association study of PR interval (2010) (432)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus (2011) (428)
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (2011) (424)
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis (2016) (424)
SLC2A9 influences uric acid concentrations with pronounced sex-specific effects (2008) (423)
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences (2019) (421)
Erratum: Detection and interpretation of shared genetic influences on 42 human traits (2016) (417)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
Mutations in the deubiquitinase gene USP8 cause Cushing's disease (2014) (412)
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes (2014) (405)
Common variants at ten loci modulate the QT interval duration in the QTSCD Study (2009) (401)
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa (2000) (401)
Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome (2001) (397)
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate (2010) (391)
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
Genetic diagnosis of Mendelian disorders via RNA sequencing (2017) (385)
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (2013) (379)
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk (2017) (359)
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1 (2010) (350)
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction (2010) (345)
Genome-wide meta-analysis identifies new susceptibility loci for migraine (2013) (336)
Discovery of Sexual Dimorphisms in Metabolic and Genetic Biomarkers (2011) (325)
Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants (2013) (320)
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. (2014) (320)
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. (2012) (313)
Prevalence of refractive error in Europe: the European Eye Epidemiology (E3) Consortium (2015) (312)
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. (2016) (309)
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis (2000) (309)
Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis (2017) (308)
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2017) (294)
Inactivating mutations in NPC1L1 and protection from coronary heart disease. (2014) (289)
Genome-Wide Scan on Total Serum IgE Levels Identifies FCER1A as Novel Susceptibility Locus (2008) (289)
Genome-wide association analysis identifies susceptibility loci for migraine without aura (2012) (286)
Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation (2015) (285)
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome (2008) (269)
Correction: Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis (2015) (268)
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (2014) (260)
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency (2010) (259)
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. (2001) (253)
A catalog of genetic loci associated with kidney function from analyses of a million individuals (2019) (252)
Isolation of a candidate gene for Norrie disease by positional cloning (1992) (246)
Dysfunctional nitric oxide signalling increases risk of myocardial infarction (2013) (234)
Characterization of circular RNAs in human, mouse and rat hearts. (2016) (230)
Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease (2011) (228)
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. (2011) (224)
Integrative Analysis of the Mitochondrial Proteome in Yeast (2004) (221)
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. (2018) (221)
Narcolepsy is strongly associated with the TCR alpha locus (2009) (219)
Large scale replication and meta-analysis of variants on chromosome 4q25 associated with atrial fibrillation. (2008) (219)
Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke (2009) (213)
Common variants in P2RY11 are associated with narcolepsy (2010) (213)
A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array (2014) (212)
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease (2017) (204)
Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany. (2006) (202)
Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations (2009) (201)
Genetic evidence of assortative mating in humans (2017) (199)
Genetic Determinants of Circulating Sphingolipid Concentrations in European Populations (2009) (199)
ALOX5AP Gene and the PDE4D Gene in a Central European Population of Stroke Patients (2005) (199)
Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. (1997) (199)
Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction (2010) (198)
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. (2014) (197)
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (2016) (195)
Multiple regions of α‐synuclein are associated with Parkinson's disease (2005) (195)
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease (2013) (195)
A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals (2011) (193)
The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. (2001) (192)
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation (2006) (191)
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). (1997) (189)
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. (2012) (187)
Genetic Determinants of Serum Testosterone Concentrations in Men (2011) (186)
Genome-Wide Association Studies of Serum Magnesium, Potassium, and Sodium Concentrations Identify Six Loci Influencing Serum Magnesium Levels (2010) (185)
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study (2011) (185)
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes (1996) (185)
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels (2019) (183)
Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations (2012) (181)
Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus (2009) (181)
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing (2012) (180)
Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function (2017) (180)
Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure (1993) (179)
Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. (2012) (176)
Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1 (2011) (172)
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. (2012) (170)
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis (2014) (170)
Common Variants in Myocardial Ion Channel Genes Modify the QT Interval in the General Population: Results From the KORA Study (2005) (168)
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. (2013) (167)
Novel (ovario) leukodystrophy related to AARS2 mutations (2014) (165)
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22 (2002) (164)
The Association of a SNP Upstream of INSIG2 with Body Mass Index is Reproduced in Several but Not All Cohorts (2007) (163)
Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility (2014) (159)
Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins (1992) (158)
A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes (2012) (156)
Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease. (2010) (155)
Genome-wide association analysis identifies multiple loci related to resting heart rate. (2010) (154)
Lifelong Reduction of LDL-Cholesterol Related to a Common Variant in the LDL-Receptor Gene Decreases the Risk of Coronary Artery Disease—A Mendelian Randomisation Study (2008) (154)
The Autosomal Dominant Hypophosphatemic Rickets (ADHR) Gene Is a Secreted Polypeptide Overexpressed by Tumors that Cause Phosphate Wasting (2001) (153)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (153)
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted (2003) (152)
Genetic Regulation of Serum Phytosterol Levels and Risk of Coronary Artery Disease (2010) (151)
Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. (1997) (149)
Ghrelin receptor gene: identification of several sequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature. (2004) (147)
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error (2018) (147)
Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study (2015) (146)
Directional dominance on stature and cognition in diverse human populations (2015) (144)
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. (2013) (143)
A KATP channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila (2011) (141)
Intragenic Deletion of theKALIG-1Gene in Kallmann's Syndrome (1992) (139)
Linkage disequilibrium patterns and tagSNP transferability among European populations. (2005) (138)
SNP-Based Analysis of Genetic Substructure in the German Population (2006) (137)
Hot-spot KIF5A mutations cause familial ALS (2018) (136)
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. (2007) (136)
An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. (2003) (133)
CLOCK Gene Variants Associate with Sleep Duration in Two Independent Populations (2010) (133)
Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death (2011) (132)
Mutations in the candidate gene for Norrie disease. (1992) (131)
Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations (2013) (130)
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (2013) (128)
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (127)
A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy. (2014) (126)
Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. (2011) (125)
The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. (1999) (125)
Improved proteome analysis of Saccharomyces cerevisiae mitochondria by free‐flow electrophoresis (2003) (125)
Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy (2017) (125)
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. (2013) (124)
A genome-wide association study identifies three loci associated with mean platelet volume. (2009) (123)
Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery (2009) (123)
Loss‐of‐function mutations of SURF‐1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency (1999) (121)
Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms (2014) (120)
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. (2014) (119)
A novel deletion in progranulin gene is associated with FTDP-17 and CBS (2008) (119)
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. (2003) (117)
Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups (2015) (116)
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. (2009) (115)
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 (2016) (114)
Common genetic variants associate with serum phosphorus concentration. (2010) (114)
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14 (2000) (113)
Genetic Association Study Identifies HSPB7 as a Risk Gene for Idiopathic Dilated Cardiomyopathy (2010) (110)
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency (2016) (110)
Variation in the 4q25 Chromosomal Locus Predicts Atrial Fibrillation After Coronary Artery Bypass Graft Surgery (2009) (110)
A Meta-analysis of Gene Expression Signatures of Blood Pressure and Hypertension (2015) (108)
Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome (2008) (108)
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia (2017) (107)
Targeting 160 Candidate Genes for Blood Pressure Regulation with a Genome-Wide Genotyping Array (2009) (106)
Cell Specific eQTL Analysis without Sorting Cells (2014) (105)
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2011) (104)
Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation (2016) (104)
The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG). (2008) (104)
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. (2017) (103)
Effects of Metformin on Metabolite Profiles and LDL Cholesterol in Patients With Type 2 Diabetes (2015) (103)
Restless Legs Syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon (2014) (102)
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. (2009) (102)
Genome-Wide Association Analysis of High-Density Lipoprotein Cholesterol in the Population-Based KORA Study Sheds New Light on Intergenic Regions (2008) (101)
NEK1 mutations in familial amyotrophic lateral sclerosis. (2016) (101)
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. (2018) (100)
Comprehensive catalog of European biobanks (2011) (99)
Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error (2016) (98)
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy (2015) (98)
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine (2015) (98)
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect (2020) (98)
52 Genetic Loci Influencing Myocardial Mass. (2016) (98)
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. (2015) (96)
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function (2017) (95)
MitoP2: the mitochondrial proteome database—now including mouse data (2005) (95)
Spectrum of combined respiratory chain defects (2015) (93)
Proteome analysis of mitochondrial outer membrane from Neurospora crassa (2006) (93)
Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids (2019) (93)
Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy. (2011) (93)
The mitochondrial proteome database: MitoP2. (2009) (92)
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings (2013) (92)
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility. (1992) (91)
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. (2014) (89)
Eight blood pressure loci identified by genome-wide association study of 34,433 people of European ancestry (2009) (88)
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation (2020) (88)
Replication of restless legs syndrome loci in three European populations (2009) (88)
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts (2016) (86)
Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria (2019) (86)
Analyzing Illumina Gene Expression Microarray Data from Different Tissues: Methodological Aspects of Data Analysis in the MetaXpress Consortium (2012) (86)
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement (2015) (86)
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. (2014) (85)
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9 (2011) (85)
MitoP2, an integrated database on mitochondrial proteins in yeast and man (2004) (85)
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated β-myosin heavy chain genes (1998) (84)
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies (2014) (84)
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives (2007) (83)
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. (2016) (83)
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement (2016) (83)
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. (2012) (82)
CAD mutations and uridine-responsive epileptic encephalopathy (2017) (82)
Evidence for further genetic locus heterogeneity and confirmation of RLS‐1 in restless legs syndrome (2006) (82)
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies (2015) (81)
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency (2015) (81)
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals (2022) (80)
Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium (2016) (80)
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. (2016) (80)
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome (2012) (80)
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. (2011) (78)
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I (2000) (78)
Genome-wide linkage analysis of serum creatinine in three isolated European populations. (2009) (78)
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2) (1998) (78)
Genetic Variation in Soluble Epoxide Hydrolase (EPHX2) Is Associated With an Increased Risk of Ischemic Stroke in White Europeans (2008) (78)
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease (2017) (78)
Genome-wide association studies of atrial fibrillation: past, present, and future. (2011) (78)
Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products. (1998) (77)
Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. (2019) (77)
Narcolepsy is strongly associated with the T-cell receptor alpha locus (vol 41, pg 708, 2009) (2014) (76)
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. (1998) (76)
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island. (2015) (76)
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. (2007) (76)
MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome (2008) (75)
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. (2017) (75)
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium (2012) (75)
Genome-wide methylation data mirror ancestry information (2016) (74)
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. (2001) (74)
A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier (2011) (74)
Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene. (2000) (73)
COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency (2015) (73)
A new family of interspersed repetitive DNA sequences in the mouse genome. (1982) (72)
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations (2006) (72)
A Genome-Wide Association Scan of RR and QT Interval Duration in 3 European Genetically Isolated Populations: The EUROSPAN Project (2009) (72)
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. (2014) (72)
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity (2012) (70)
MITOP, the mitochondrial proteome database: 2000 update (2000) (70)
Risk gene variants for nicotine dependence in the CHRNA5–CHRNA3–CHRNB4 cluster are associated with cognitive performance (2010) (68)
Associations of autozygosity with a broad range of human phenotypes (2019) (68)
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. (2016) (67)
Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. (1990) (67)
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. (2013) (67)
A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms[S] (2017) (67)
Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage (2013) (66)
Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. (1995) (66)
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. (2016) (65)
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity (2019) (65)
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood (2016) (65)
Genome-wide association study of migraine implicates a common susceptibility variant on 8 q 22 . 1 (2010) (64)
The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome. (2005) (64)
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction (2015) (64)
Modeling of Environmental Effects in Genome-Wide Association Studies Identifies SLC2A2 and HP as Novel Loci Influencing Serum Cholesterol Levels (2010) (63)
Comprehensive analysis of the mutation spectrum in 301 German ALS families (2018) (63)
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13 (2008) (62)
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease (2011) (62)
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity (2018) (61)
Electroretinography as a screening method for mutations causing retinal dysfunction in mice. (2004) (61)
Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency (2014) (61)
Gene mapping and marker clustering using Shannon's mutual information (2006) (61)
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures (2009) (61)
Interplay of cell–cell contacts and RhoA/MRTF‐A signaling regulates cardiomyocyte identity (2018) (60)
Single‐cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene (2009) (60)
Chapter 1 The Mitochondrial Proteome Database (2009) (60)
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. (2016) (59)
Genetic Variation in Members of the Leukotriene Biosynthesis Pathway Confer an Increased Risk of Ischemic Stroke: A Replication Study in Two Independent Populations (2008) (59)
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. (2015) (58)
A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern. (2012) (58)
A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy (2008) (58)
Common variants of LRRK2 are not associated with sporadic Parkinson's disease (2005) (57)
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa. (1995) (57)
Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene. (1998) (57)
Cerebral small vessel disease genomics and its implications across the lifespan (2020) (56)
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome (2020) (55)
Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. (1992) (55)
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (2013) (55)
Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing (2011) (55)
Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood (2012) (55)
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level (2010) (55)
Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (55)
Lack of Association Between the MEF2A Gene and Myocardial Infarction (2008) (53)
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. (2014) (53)
Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2 (2015) (53)
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits (2017) (52)
Lack of association of genetic variants in genes of the endocannabinoid system with anorexia nervosa (2008) (51)
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. (2013) (51)
Informatics and Medicine (2008) (50)
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors (2018) (50)
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome. (2014) (50)
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies (2017) (50)
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? (2018) (50)
A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest (2017) (49)
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3). (2000) (49)
Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease (2019) (49)
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. (1993) (48)
Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders (2013) (48)
Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores (2019) (48)
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy (2015) (47)
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration (2019) (47)
No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents. (2007) (47)
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy (2016) (47)
Genome-Wide Association Study on Immunoglobulin G Glycosylation Patterns (2018) (47)
Epigenetics meets proteomics in an epigenome-wide association study with circulating blood plasma protein traits (2020) (47)
Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls (2014) (46)
Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility (2018) (46)
Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci (2014) (45)
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants (2021) (45)
Point mutations in the PDX1 transactivation domain impair human β-cell development and function (2019) (45)
Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas. (2015) (44)
Age‐related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene (2009) (44)
Metformin Effect on Nontargeted Metabolite Profiles in Patients With Type 2 Diabetes and in Multiple Murine Tissues (2016) (44)
Gene-based pleiotropy across migraine with aura and migraine without aura patient groups (2016) (44)
Network inference from glycoproteomics data reveals new reactions in the IgG glycosylation pathway (2017) (44)
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. (2017) (44)
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) (2018) (43)
Natriuretic Peptide System Gene Variants Are Associated with Ventricular Dysfunction after Coronary Artery Bypass Grafting (2009) (43)
DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family (2014) (42)
Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p (2002) (42)
Mapping the Genetic Architecture of Gene Regulation in Whole Blood (2014) (41)
Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans (2008) (41)
Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy. (1994) (41)
Mitochondrial Genetic Variants Identified to Be Associated with BMI in Adults (2014) (40)
Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (39)
Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate (2006) (39)
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 (2015) (39)
Single-Nucleotide Polymorphisms of MMP-2 Gene in Stroke Subtypes (2008) (39)
Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder. (2000) (39)
Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXs7. (1992) (38)
MicroRNA-21–Dependent Macrophage-to-Fibroblast Signaling Determines the Cardiac Response to Pressure Overload (2021) (38)
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 (2016) (38)
Mechanisms for multiple intracellular localization of human mitochondrial proteins. (2004) (38)
DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor (1995) (38)
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction (2019) (38)
Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease (2015) (37)
A population-based epidemiological and genetic study of X-linked retinitis pigmentosa. (2007) (37)
Clinical implementation of RNA sequencing for Mendelian disease diagnostics (2021) (37)
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import. (2009) (36)
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. (2018) (36)
Genome-Wide Genotyping Demonstrates a Polygenic Risk Score Associated With White Matter Hyperintensity Volume in CADASIL (2014) (36)
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. (2014) (36)
Mitochondrial membrane protein-associated neurodegeneration (MPAN). (2013) (36)
Case–control genetic association study of fibulin‐6 (FBLN6 or HMCN1) variants in age‐related macular degeneration (AMD) (2007) (36)
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism. (2017) (36)
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America (2000) (35)
Cohen syndrome diagnosis using whole genome arrays (2010) (35)
Fifteen Genetic Loci Associated With the Electrocardiographic P Wave (2017) (35)
Immune‐Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA–DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum (2017) (35)
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities (2015) (35)
A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms (2017) (35)
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb (2017) (34)
DeepWAS: Multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning (2018) (34)
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. (2016) (34)
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies (2017) (34)
Microdeletion syndrome 16p11.2‐p12.2: Clinical and molecular characterization (2009) (34)
The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1. (1995) (33)
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. (2018) (33)
Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval. (1996) (33)
Dilution of candidates: the case of iron-related genes in restless legs syndrome (2012) (32)
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center (2021) (32)
A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD) (2015) (31)
Determinants of occurrence and survival after sudden cardiac arrest-A European perspective: The ESCAPE-NET project. (2018) (31)
CRIM1 haploinsufficiency causes defects in eye development in human and mouse. (2015) (31)
Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population (2007) (31)
Impairment of Drosophila Orthologs of the Human Orphan Protein C19orf12 Induces Bang Sensitivity and Neurodegeneration (2014) (31)
Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13 (2007) (30)
MITOP: database for mitochondria-related proteins, genes and diseases (1999) (30)
Investigating the causal effect of smoking on hay fever and asthma: a Mendelian randomization meta-analysis in the CARTA consortium (2017) (30)
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families (2020) (30)
Lymphotoxin-α and galectin-2 SNPs are not associated with myocardial infarction in two different German populations (2007) (30)
Publisher Correction: Network inference from glycoproteomics data reveals new reactions in the IgG glycosylation pathway (2018) (30)
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases (2020) (30)
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X‐linked ichthyosis and mental retardation (1998) (30)
The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study. (2007) (29)
The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. (1994) (29)
Congenital heart disease risk loci identified by genome-wide association study in European patients. (2020) (29)
Genetic variants in RBFOX3 are associated with sleep latency (2016) (29)
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes (2020) (29)
Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies (2015) (29)
A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine (2020) (29)
Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour (2021) (29)
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes (2006) (28)
Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans. (2007) (28)
DiGeorge syndrome and partial monosomy 10p: case report and review. (1995) (28)
Disentangling the genetics of lean mass. (2019) (28)
Mitochondrial genetic variants identified to be associated with posttraumatic stress disorder (2015) (28)
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium (2014) (28)
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. (2019) (28)
The role of biobanking in rare diseases: European consensus expert group report. (2009) (28)
Low‐risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients (2010) (28)
Genes predict village of origin in rural Europe (2010) (28)
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function (2022) (27)
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline. (2020) (27)
A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors (2015) (27)
Genome-wide association study in takotsubo syndrome - Preliminary results and future directions. (2017) (27)
Lack of replication in polymorphisms reported to be associated with atrial fibrillation. (2011) (27)
A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis. (1994) (27)
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits (2019) (26)
Neonatal encephalocardiomyopathy caused by mutations in VARS2 (2017) (26)
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. (2011) (26)
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families (2017) (26)
Stroke genetics informs drug discovery and risk prediction across ancestries (2022) (26)
PSEA: Phenotype Set Enrichment Analysis—A New Method for Analysis of Multiple Phenotypes (2012) (26)
Extensive alterations of the whole-blood transcriptome are associated with body mass index: results of an mRNA profiling study involving two large population-based cohorts (2015) (25)
MITOP, THE MITOCHONDRIAL PROTEOME DATABASE (2000) (25)
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine (2016) (25)
Severe respiratory complex III defect prevents liver adaptation to prolonged fasting. (2016) (25)
Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure (2017) (25)
ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals (2018) (24)
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease (2007) (24)
Nonviral glial cell-derived neurotrophic factor gene transfer enhances survival of cultured dopaminergic neurons and improves their function after transplantation in a rat model of Parkinson's disease. (2000) (24)
Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms (2006) (24)
Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant. (2016) (24)
[Autosomal dominant hereditary retinopathia pigmentosa with genetic heterogeneity]. (1991) (24)
Common variants in P 2 RY 11 are associated with narcolepsy (2010) (24)
Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache (2020) (23)
DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures (2021) (23)
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency (2018) (23)
Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I (2018) (23)
Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients (2012) (23)
Genetic Variation in the Lymphotoxin-Alpha Pathway and the Risk of Ischemic Stroke in European Populations (2009) (22)
Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas (2017) (22)
Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study (2016) (22)
MTO1-Deficient Mouse Model Mirrors the Human Phenotype Showing Complex I Defect and Cardiomyopathy (2014) (22)
Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
Genetic Factors Explain a Major Fraction of the 50% Lower Lipoprotein(a) Concentrations in Finns (2018) (22)
Discordant monozygotic twins with the Schimmelpenning‐Feuerstein‐Mims syndrome (1996) (22)
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing (2016) (22)
A genome-wide association meta-analysis on apolipoprotein A-IV concentrations (2016) (22)
Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals. (2019) (22)
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? (2003) (21)
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family (2017) (21)
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome (2021) (21)
A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33. (2004) (21)
Rare variants in LRRK1 and Parkinson's disease (2013) (21)
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3 (2017) (20)
Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome. (1994) (20)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. (2020) (20)
Exome Sequencing in Children. (2019) (20)
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease (2014) (20)
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families (2009) (19)
Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred – a possible new syndrome (2001) (19)
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (2022) (19)
3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. (2011) (19)
NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. (2017) (18)
Infantile neuroaxonal dystrophy and pantothenate kinase-associated neurodegeneration (2004) (18)
Mapping of Xp21 translocation breakpoints in and around the DMD gene by pulsed field gel electrophoresis. (1988) (18)
Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand. (2020) (18)
Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1? (2016) (18)
Homozygous XYLT2 variants as a cause of spondyloocular syndrome (2018) (18)
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. (1996) (18)
Two novel mutations in conserved codons indicate that CHCHD 10 is a gene associated with motor neuron disease (2014) (18)
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse (1998) (18)
Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval (2018) (18)
Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome (2011) (17)
Tetrasomy 21pter→q21.2 in a male infant without typical Down’s syndrome dysmorphic features but moderate mental retardation (2004) (17)
Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen. (1996) (17)
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing (2019) (17)
The many faces of paediatric mitochondrial disease on neuroimaging (2016) (17)
Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus (1993) (17)
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum (2016) (17)
Anticholinergic‐responsive gait freezing in a patient with pantothenate kinase‐associated neurodegeneration (2008) (16)
Variation in the 4 q 25 Chromosomal Locus Predicts Atrial Fibrillation After Coronary Artery Bypass Graft Surgery (2009) (16)
Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarction (2018) (16)
How to link call rate and p‐values for Hardy–Weinberg equilibrium as measures of genome‐wide SNP data quality (2010) (16)
Associations between calcium and vitamin D supplement use as well as their serum concentrations and subclinical cardiovascular disease phenotypes. (2015) (16)
Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2011) (15)
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. (2019) (15)
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation (2017) (15)
Familial carpal tunnel syndrome: further evidence for a genetic contribution (2005) (15)
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles (2017) (15)
Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease (2018) (15)
Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach (2019) (15)
Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders (2021) (14)
Gene-gene Interaction Analyses for Atrial Fibrillation (2016) (14)
A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors (2017) (14)
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy. (2019) (14)
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes (2020) (14)
New loci for restless legs syndrome map to chromosome 4q and 17p (2006) (13)
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2 p 14 and 16 q 12 . 1 (2017) (13)
Geographic distribution and origin of CFTR mutations in Germany (1996) (13)
A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1). (1994) (12)
Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly. (2003) (12)
Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes (2017) (12)
A familial deletion in the Prader‐Willi syndrome region including the imprinting control region (1996) (12)
MicroRNA-365 regulates human cardiac action potential duration (2022) (12)
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy (2017) (12)
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities (2017) (12)
Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene. (2016) (12)
Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia (2005) (12)
Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10 p 11 . 23 (2010) (12)
Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene. (2016) (12)
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. (1995) (12)
X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. (2001) (12)
Bi-allelic truncating mutations in VWA1 cause neuromyopathy. (2021) (11)
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. (2007) (11)
A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay (2018) (11)
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum (2018) (11)
Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels (2015) (11)
P4-149 Identification of genetic loci associated with familial frontotemporal dementia (2004) (11)
Genetic Variants Associated With Atrial Fibrillation and PR Interval Following Cardiac Surgery. (2015) (11)
A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids (2021) (11)
Mutations in APOPT 1 , Encoding a Mitochondrial Protein , Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency (2017) (11)
Adolescent growth: genes, hormones and the peer group. Proceedings of the 20th Aschauer Soiree, held at Glücksburg castle, Germany, 15th to 17th November 2013. (2014) (10)
Association of alcohol consumption with allergic disease and asthma: a multi‐centre Mendelian randomization analysis* (2018) (10)
INSIG2 promoter variant, obesity markers and lipid parameters - No association in a large Slavonic Caucasian population sample. (2010) (10)
Do common genetic variants in endotoxin signaling pathway contribute to predisposition to alcoholic liver cirrhosis? (2009) (10)
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum (2021) (10)
Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the b-myosin heavy chain gene and cardiac arrest in childhood A case report and family study (2000) (10)
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium (2012) (10)
Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms (2006) (10)
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases (2022) (9)
Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus (2020) (9)
Whole‐exome sequencing revealed a nonsense mutation in STKLD1 causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb (2019) (9)
Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1 (2011) (9)
Multi-ancestry genome-wide gene–sleep interactions identify novel loci for blood pressure (2021) (9)
Identification of Recurring Tumor-Specific Somatic Mutations In Acute Myeloid Leukemia by Transcriptome Sequencing. (2010) (9)
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes (2021) (9)
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. (2020) (9)
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci (2020) (9)
Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia (2019) (8)
[LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)]. (2001) (8)
Stimulation of soluble guanylyl cyclase (sGC) by riociguat attenuates heart failure and pathological cardiac remodelling (2020) (8)
A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease. (2017) (8)
Genetic diversity in german and European populations: looking for substructures and genetic patterns. (2005) (8)
Rare coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes (2020) (8)
MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34 (2018) (8)
Response by Crotti et al to Letter Regarding Article, "Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?" (2016) (8)
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (8)
Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent (1994) (8)
Correction: Lifelong Reduction of LDL-Cholesterol Related to a Common Variant in the LDL-Receptor Gene Decreases the Risk of Coronary Artery Disease—A Mendelian Randomisation Study (2008) (7)
Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis (2022) (7)
TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6 (2005) (7)
Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report. (2017) (7)
Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma (2020) (7)
LEOPARD-Syndrom mit Iris-Netzhaut-Aderhaut-Kolobom Diskordanter Befund bei monozygoten Zwillingen (MIM # 151 100) (2001) (7)
Discovering patterns of pleiotropy in genome-wide association studies (2018) (7)
Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa (2016) (7)
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. (2021) (7)
A multimetric approach to analysis of genome-wide association by single markers and composite likelihood (2008) (7)
Response to Comments on "A Common Genetic Variant Is Associated with Adult and Childhood Obesity" (2007) (7)
Cis-epistasis at the LPA locus and risk of cardiovascular diseases (2021) (7)
Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder (2020) (7)
Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries (2018) (6)
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy (2019) (6)
Clinical , biochemical , and genetic spectrum of seven patients with NFU 1 deficiency (2017) (6)
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2 (2013) (6)
Abstract 4412: High Density tagSNP Candidate Gene Analysis Identifies IKs as a Major Modulator of Genetic Susceptibility to Drug Induced Long QT Syndrome (2008) (6)
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation (2018) (6)
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. (2020) (6)
Pantothenate kinase-associated neurodegeneration. (2012) (6)
Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing. (2021) (6)
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences (2019) (6)
A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter (2019) (6)
A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD) (2015) (5)
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. (2021) (5)
Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency (1994) (5)
Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23 (2020) (5)
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways (2022) (5)
Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk (2017) (5)
A Systematic Evaluation of Short Tandem Repeats in Lipid Candidate Genes: Riding on the SNP-Wave (2014) (5)
MEIS 1 and BTBD 9 : genetic association with restless leg syndrome in end stage renal disease (5)
Serum uromodulin is inversely associated with biomarkers of subclinical inflammation in the population-based KORA F4 study (2020) (5)
The Interdisciplinary Diagnosis of Rare Diseases-Results of the Translate-NAMSE Project. (2022) (5)
Recent advances in the genetics of atrial fibrillation: from rare and common genetic variants to microRNA signaling (2011) (5)
Erratum: Common variants in P2RY11 are associated with narcolepsy (2011) (5)
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS (2020) (5)
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries (2021) (5)
Extensive Natural Variation for Cellular Hydrogen Peroxide Release Is Genetically Controlled (2012) (4)
Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy. (1998) (4)
Sampling GWAS subjects from risk populations (2011) (4)
Identification of a second major locus for neurodegeneration with brain iron accumulation (2011) (4)
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy (2020) (4)
Exome Sequencing in Children Undiagnosed Developmental Delay and Neurological Illness (2019) (4)
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study (2021) (4)
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2018) (4)
Compound heterozygous SPATA 5 variants in four families and functional studies of SPATA 5 de fi ciency (2019) (4)
In frame deletion (ΔF311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene (1993) (4)
DNA microarrays as a method to monitor changes in mitochondria-related gene expression in patients with OXPHOS defects and/or mitochondrial cardiomyopathy (2001) (4)
Identification of a Functional PDE5A Variant at the Chromosome 4q27 Coronary Artery Disease Locus in an Extended Myocardial Infarction Family. (2021) (4)
Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online. (1998) (4)
Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome (2014) (4)
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals (2022) (4)
Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies (2022) (4)
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B (2021) (4)
Blood cis-eQTL Analysis Fails to Identify Novel Association Signals among Sub-Threshold Candidates from Genome-Wide Association Studies in Restless Legs Syndrome (2014) (4)
Variants in STAT5B associate with serum TC and LDL-C levels. (2011) (4)
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing (2019) (4)
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. (2020) (3)
Association of circulating MR-proADM with all-cause and cardiovascular mortality in the general population: Results from the KORA F4 cohort study (2022) (3)
Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27β (DXS255) (1989) (3)
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease (2009) (3)
Lack of Association Between the MEF 2 A Gene and Myocardial Infarction (2007) (3)
Whole genome sequencing of a single Bos taurus animal for SNP discovery (2009) (3)
Rare variants in LRRK 1 and Parkinson ’ s disease (2013) (3)
Expression profiling in patients with complex IV respiratory chain deficiencies (2002) (3)
[Neurogenetics--the challenge for neurology. 1. Neurogenetic diseases]. (1991) (3)
Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins (2019) (3)
Variants associated with HHIP expression have sex-differential effects on lung function. (2020) (3)
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities (2015) (3)
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (3)
Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure (2020) (3)
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions. (2020) (3)
Konzept für ein deutschlandweites Krankheitsnetz am Beispiel von mitoREGISTER (2010) (3)
Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET) (2012) (3)
TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge (2020) (3)
Procolipase Gene: No Association with Early-Onset Obesity or Fat Intake (2009) (3)
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 (2020) (3)
The German network for mitochondrial disorders (mitoNET) (2013) (3)
Abstract 13371: CALM2 Mutations Associated With Atypical Juvenile Long QT Syndrome (2013) (3)
Abstract 1879: Genetic Variation at Chromosome 1p13.3 Affects Sortilin mRNA Expression, Cellular LDL Uptake and Serum LDL Levels Which Translates to the Risk of Coronary Artery Disease (2009) (2)
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. (2022) (2)
The delta subunit of rod phosphodiesterase interacts with the RCC1 homologous domain of RPGR (1998) (2)
Sequence Variants on Chromosome 9p21 Confer Risk of Large Vessel Stroke. (2009) (2)
Gene expression and splicing counts from the Yepez, Gusic et al study - non-strand specific (2021) (2)
Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes (2021) (2)
Novel Calmodulin (CALM2) Mutations Associated with Congenital Arrhythmia Susceptibility (2)
Biotinidase deficiency (2020) (2)
Die Neurofibromatosen Einteilung und klinische Leitsymptome (1992) (2)
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy (2015) (2)
Genetic variation in the lymphotoxin alpha pathway and the risk of ischaemic stroke (2007) (2)
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder (2020) (2)
Abstract 4404: Variation in the 4q25 Chromosomal Locus Predicts New-Onset Atrial Fibrillation after Cardiac Surgery (2008) (2)
SNPs in FKBP5 determine a novel subtype of depression characterized by rapid response to antidepressant treatment (2006) (2)
Constitutive activation of PRKACA in adrenal Cushing's syndrome (2014) (2)
Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids (2019) (2)
Cis-epistasis at the LPA locus and risk of coronary artery disease (2019) (2)
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study (2022) (2)
Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility (2016) (2)
Clonal Hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders. (2022) (2)
Correction: Genetic Structure of Europeans: A View from the North–East (2010) (2)
Autosomal-dominant erbliche Retinopathia pigmentosa ist genetisch heterogen (1991) (2)
Somatic gene therapy in animal models of Parkinson's disease. (1999) (2)
[Neurogenetics--the challenge for neurology. Part 1. Gene mapping and gene diagnostics]. (1991) (1)
Migraine without aura: genome-wide association analysis identifies several novel susceptibility (2013) (1)
Abstract 12059: Incidental Findings in Cardiomyopathy and Channelopathy Genes Among 5891 Individuals Undergoing Whole-exome Sequencing. What Should be Reported? (2015) (1)
Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) - an integrated strategy under FP7 to improve research, treatment, and care in neurodegeneration with brain iron accumulation (2013) (1)
Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. (2002) (1)
Multi-ancestry analysis of gene-sleep interactions in 126,926 individuals identifies multiple novel blood lipid loci that contribute to our understanding of sleep-associated adverse blood lipid profile (2019) (1)
Integrative analysis of the mitochondrial proteome (2004) (1)
Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome (1992) (1)
P1614Soluble guanylate cyclase as a therapeutic target in heart failure: myocardial gene expression in response to sGC stimulation in pressure overload (2019) (1)
Absence of the Autophagy Adaptor SQSTM 1 / p 62 Causes Childhood-Onset Neurodegeneration with Ataxia , Dystonia , and Gaze Palsy Haack (1)
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits (2019) (1)
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes (2022) (1)
Mitochondriopathy due to mutations in MTFMT: a predominant neurologic phenotype (2013) (1)
O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder (2013) (1)
Mutation analysis in the diagnosis of cystic fibrosis (1993) (1)
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse (2021) (1)
Pleiotropic molecular targets of coxibs reveals novel genomic loci conferring coronary artery disease risk (2016) (1)
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity (2019) (1)
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function (2022) (1)
pulver: an R package for parallel ultra-rapid p-value computation for linear regression interaction terms (2017) (1)
Riociguat attenuates the changes in left ventricular proteome and microRNA profile after experimental aortic stenosis in mice (2022) (1)
Berger, W. et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genet. 1, 199-203 (1992) (1)
In frame deletion (delta F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene. (1993) (1)
MicroRNA-365 regulates human cardiac action potential duration (2022) (1)
Variants associated with HHIP expression have sex-differential effects on lung function (2021) (1)
MATR3 haploinsufficiency and early-onset neurodegeneration. (2021) (1)
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity (2018) (1)
Abstract 3397: The Common E298D-Variant of the Endothelial Nitric Oxide Synthase is Associated with Atrial Fibrillation in a Large Linkage-Disequilibrium Based Approach (2006) (1)
A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array (2014) (1)
Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity (2018) (1)
Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization (2018) (1)
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases (2022) (1)
Abstract 2923: Association Mapping Of QT-interval In a 500k Genome-wide Scan: Confirmation Of NOS1AP And Identification Of A Spectrum Of Additional QTLs (2007) (1)
Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization (2021) (1)
Association of renin and aldosterone with glucose metabolism in a Western European population: the KORA F4/FF4 study (2022) (1)
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations. (2019) (1)
Absence of BiP Co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration (The American Journal of Human Genetics (2014) 96 (689-697)) (2015) (1)
LRRK2 (Leucine-Rich Repeat Kinase 2) Gene on PARK8 Locus in Families with Parkinsonism (2008) (1)
Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries (2022) (1)
Feitosa, M. F., & Levy, D. (2018). Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K (2018) (1)
Publisher Correction: A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids (2021) (1)
Widening the view (1997) (1)
Mitochondriale Erkrankungen (2012) (1)
Mitochondriopathien – neue Trends in Diagnostik und Therapie (2015) (1)
Zeichnungen (2021) (1)
Patentstrategien (2022) (1)
Sichtung der genomischen Variation der Fleckvieh Population durch Re-Sequenzierung bei niedriger bis mittlerer Abdeckung. (2011) (1)
Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage (2013) (1)
Review Process File (2012) (0)
Effect of genome-wide simultaneous hypotheses tests on the discovery rate. (2011) (0)
MULTIPLE MITOCHONDRIAL DYSFUNCTION SYNDROME CAUSED BY A MUTATION IN BOLA3 (2012) (0)
DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures (2021) (0)
Restless Legs Syndrome-associated intronic common-variant in Meis 1 alters enhancer function in the developing telencephalon Supplemental Material (2014) (0)
Mutations in ATP6V1E1 or ATP6V1A cause AR cutis laxia (2016) (0)
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum (2016) (0)
Erfindergemeinschaft (2021) (0)
Sengers syndrome is caused by a deficiency of the acylglycerol kinase (2013) (0)
Lack of Association Between the MEF2A Gene and Myocardial Infarction Genetics (2008) (0)
Bezafibrate as treatment option in patients with mitochondrial complex I deficiency (2013) (0)
Abstract 366: Evidence For Genetic Variations Associated With Increased Risk Of Left Main Disease At Chromosome 9p21 (2007) (0)
Die internationale Patentanmeldung (2021) (0)
A new locus for restless legs syndrome maps to chromosome 4q (2005) (0)
The Norrie Disease Gene: Positional Cloning, Mutation Analysis and Protein Homologies (1993) (0)
Durchsetzen einer Marke (2021) (0)
Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing (2013) (0)
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2018) (0)
Familiarity and course of specific language impairment of 175 children (2011) (0)
University of Groningen Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations Demirkan, (2012) (0)
Bestimmung von Gen x Gen Wechselwirkungen zwischen etablierten Adipositas assozierten Polymorphismen des Insulin Induced 2 (INSIG2) und des Melanocortin-4 Rezeptor (MC4R) Gens (2006) (0)
Migraine without aura: genome-wide association analysis identifies several novel susceptibility (2013) (0)
Publisher Correction: Identification of 371 genetic variants for age at first sex and birth linked to externalising behavior (2021) (0)
Exome sequencing as an approach to identify disease causing mutations in pediatric patients with mitochondrial diseases (2013) (0)
Extensive alterations of the whole-blood transcriptome are associated with body mass index: results of an mRNA profiling study involving two large population-based cohorts (2015) (0)
Summary of significant mtSNPs. (2015) (0)
Ratgeber für Arbeitnehmererfinder (2022) (0)
Eintragungshindernisse (2021) (0)
Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients (2012) (0)
Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia (2019) (0)
Genetic variation in the serotonin-receptor HTR5A is associated with systolic blood pressure and left ventricular end-diastolic diameter (2008) (0)
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals (2018) (0)
Fundus Autofluorescence in Carriers for RP3 With Known Genotype (2002) (0)
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT) (2023) (0)
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error (2018) (0)
BRAIN LETTER TO THE EDITOR Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease (2014) (0)
mitoNET – German Network for mitochondrial disorders (2008) (0)
Genome–Wide SNP Microarrays as a Diagnostic Tool in Consanguineous LCA Patients (2006) (0)
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age (2022) (0)
Sideroflexin-4 Defects Cause A New Infantile Mitochondrial Disorder Affecting Hematopoietic And Central Nervous Systems. (P7.328) (2014) (0)
P 913. Heterozygous Nonsense Variant in the TCF20 Gene as a Cause of Congenital Myopathy (2018) (0)
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction (2020) (0)
Epigenome-wide association reveals extensive perturbations in DNA methylation associated with adiposity and its adverse metabolic consequences. Authors (2015) (0)
Sequence variation in the gene encoding soluble epoxide hydrolase (EPHX2) is associated with increased susceptibility to ischemic stroke in a central european population (2007) (0)
Zeitliche Abläufe (2021) (0)
Running title: Genome-wide association study in long QT syndrome (2020) (0)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (0)
Errata (2011) (0)
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (0)
Differential Expression of Candidate Genes with de novo Mutations in Patients with Hypoplastic Left Heart Syndrome in Murine Cardiac Progenitor Cells (2015) (0)
Mutation analysis of genes regulating the hypothalamo-pituitary adrenal (HPA) axis in patients with depressive syndrome (2002) (0)
Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730] (2020) (0)
Mitochondrial complex I deficiency – new diagnostic approaches allow better genetic characterisation of 150 patients (2011) (0)
University of Groningen Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration Iuso, (2014) (0)
Explorer Novel association to the proprotein convertase PCSK 7 gene locus revealed by analysing soluble transferrin receptor ( sTfR ) levels (2018) (0)
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency (2018) (0)
Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications (2023) (0)
Deutsche Marke (2021) (0)
JMEDGENET87858 462..466 (0)
A High Resolution Protein Map of Human Neural Retina in Comparison to Murine, Bovine and Avian Retinae (2002) (0)
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation (2018) (0)
Genome-wide association study of survival from sepsis due to pneumonia (2014) (0)
Improved molecular diagnostics for patients with respiratory chain complex deficiency (2008) (0)
A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine (2020) (0)
Abstract P2061: The Long Non-coding RNA Schlafenlnc As A Regulator Of Cardiac Resident Macrophage Function (2022) (0)
Mitochondrial Encephalopathies caused by defective mitochondrial translation (2012) (0)
Network inference from glycoproteomics data reveals new reactions in the IgG glycosylation pathway (2017) (0)
Patentrecherche (2021) (0)
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits (2017) (0)
Abstract 19099: Genome-Wide Association Study Identifies a Region at Chr 21q21 as a Susceptibility Locus for Ventricular Fibrillation in Acute Myocardial Infarction (2010) (0)
The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome (2022) (0)
Widerspruch gegen Marke (2021) (0)
Author Correction: Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis (2022) (0)
A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors (2015) (0)
The role of MEIS1, BTBD9 and MAP2K5/LBXCOR1 in uraemic RLS – a case-control study in patients with end stage renal disease on maintenance hemodialysis (2008) (0)
PP03.1 – 3059: Mutations in ECHS1: A defect in a multifunctional enzyme causing a mitochondrial disorder (2015) (0)
A catalog of genetic loci associated with kidney function from analyses of a million individuals (2019) (0)
Population-Based Controls of the MONICA / KORA Echocardiographic Substudy and 23 MI Patients From Extended MI Families (2008) (0)
Secreted proteins from Müller Glia and Photoreceptors: candidates for cell to cell communication (2002) (0)
pulver: an R package for parallel ultra-rapid p-value computation for linear regression interaction terms (2017) (0)
Ohne Anwalt zur Marke (2021) (0)
Mutations in CLPB cause intellectual disability , congenital neutropenia , progressive brain atrophy , movement disorder , cataracts and 3-methylglutaconic aciduria Running title : CLPB defect (2014) (0)
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience (2022) (0)
Does B-type Natriuretic Peptide or Its Gene Polymorphism Predict Patient Outcome after Coronary Artery Bypass Graft Surgery? (2009) (0)
Reply (2010) (0)
Illustration by phenotype of the 11 significant mtSNPs after correcting for multiple testing. (2015) (0)
Correction: Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study (2017) (0)
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) (2018) (0)
Molecular genetic overlap between migraine and major depressive disorder (2018) (0)
A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors (2017) (0)
Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity Authors (2016) (0)
Mitochondrial complex I deficiency: exome sequencing aids efficient diagnosis and identification of a novel disease gene (2011) (0)
Mitochondrial GWA analysis in several complex diseases using the KORA population (2016) (0)
Nature Genetics | Article (2015) (0)
Unternehmensstrategie (2021) (0)
Gebrauchsmuster (2021) (0)
Clinical implementation of RNA sequencing for Mendelian disease diagnostics (2022) (0)
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels (2019) (0)
Exome sequencing in 30 neurodegeneration with brain iron accumulation patients (2013) (0)
Corrigendum to: De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. (2021) (0)
Author response for "De novo variants in neurodevelopmental disorders—experiences from a tertiary care center" (2021) (0)
The lncRNA landscape of cardiac resident macrophages and identification of Schlafenlnc as a regulator of macrophage migratory function (2022) (0)
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding. (2023) (0)
Europäisches Patent (2021) (0)
Supplementary Material (nature09270-s1) (2012) (0)
Recurrent somatic mutations in Ying Yang 1 (YY1) are found in a subgroup of sporadic insulinomas (2015) (0)
Edinburgh Research Explorer Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2018) (0)
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience. (2023) (0)
Band-like calcification with simplified gyration and polymicrogyria: further delineation of phenotype and review of literature (2013) (0)
Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 Authors (2016) (0)
Abstract: 546 HERITABILITY OF ULTRASONIC MEASUREMENTS OF SUBCLINICAL ATHEROSCLEROSIS (2009) (0)
Identification of functionally relevant genetic variants associated with multiple sclerosis using deep learning (2019) (0)
CAPON is a Novel QT-Interval Modifier Gene with Gender Dependent Effect Identified through Genomewide Association Analysis in Individuals from the General Population1 (2007) (0)
Clinical characterisation of NBIA patients with and without mutation in PANK2 gene (2008) (0)
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (2022) (0)
Rare variants in LRRK1 and Parkinson's disease (2013) (0)
Response to Comment on Adam et al. Metformin Effect on Nontargeted Metabolite Profiles in Patients With Type 2 Diabetes and in Multiple Murine Tissues. Diabetes 2016;65:3776–3785 (2017) (0)
Facelifting und Relaunch (2021) (0)
Neonatal encephalocardiomyopathy caused by mutations in VARS2 (2016) (0)
Myocardial ion channel IKr-alpha-Subunit genes KCNH2 and KCNE2: Haplotype structure and modulation of the QTc interval (2003) (0)
Genome-wide methylation data mirror ancestry information (2017) (0)
Movement disorders in encephalopathy with brain iron accumulation (2008) (0)
ORF15, coding for a glutamic acid rich domain, contains the majority of RPGR mutations (2001) (0)
Das Softwarepatent (2021) (0)
Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1 (2015) (0)
P149 – 2652: Neuroimaging findings in two common NBIA subtypes, PKAN and MPAN (2015) (0)
Correction: The MITOP database – a one-stop shop for mitochondrial information (1999) (0)
Verwechslungsgefahr (2021) (0)
P170 COMPARATIVE MAPPING OF LINKAGE AND ASSOCIATION SIGNALS IN MYOCARDIAL INFARCTION (2010) (0)
Supplementary Table S16 (2012) (0)
mitoNET-German network for mitochondrial disorders: progress report after 2 years duration (2011) (0)
A complementary strategy to approach the genetics of schizophrenia (2006) (0)
Polymorphisms in FKBP5, a co-chaperone of the glucocorticoid receptor are associated with response to antidepressant drugs (2004) (0)
Vorsicht: irreführende Rechnungen (2021) (0)
Epigenetik – was man vom ‘schönen Schafhintern' (Callipyge) über Adipositas lernen kann (2006) (0)
Gdnf-kodierende dna, teile davon und gdnf-varianten (1999) (0)
Aktuelle genetische Befunde zu Adipositas: INSIG2 und UCP3 (2006) (0)
Molekulargenetische Untersuchungen nephrologischer Patienten im Rahmen des Projekts „Bavarian Genomes“ (2023) (0)
Nicht kodierende Ribonukleinsäure im kardiovaskulären System (2022) (0)
Deutsches Patent (2021) (0)
Anmelden eines Designs (2021) (0)
Arbeitnehmererfindungen (2021) (0)
Corrigendum to: Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum (2021) (0)
Lizenzvereinbarung (2021) (0)
Verwertung von Designrechten (2021) (0)
Tipps aus der Praxis (2021) (0)
Recherche nach dem Stand der Technik (2021) (0)
Das europäische Patent (2021) (0)
Ohne Anwalt zum Designrecht (2021) (0)
Keine Assoziation von genetischen Varianten im Cannabinoidrezeptor 1 Gen (CNR1) mit frühmanifester Adipositas bei deutschen Kindern und Jugendlichen (2007) (0)
Homozygoter Antithrombin III-Mangel bei einem Kleinkind als Ursache schwerer arterieller und venöser Thromboembolien (1994) (0)
Amtlichen Bescheid erwidern (2021) (0)
Einleitung (2021) (0)
Wipano-Förderprogramm (2021) (0)
Phasen einer Marke (2021) (0)
Internationale Patentanmeldung (2021) (0)
Revolutionäre Patente (2022) (0)
Warum ein Patent oder Gebrauchsmuster? (2021) (0)
Das deutsche Patent (2021) (0)
Schutzvoraussetzzungen (2021) (0)
Verletzung eines Designrechts (2021) (0)
Wortmarke versus Wort-/Bildmarke (2021) (0)
Exomdiagnostik verändert die Sicht auf Mitochondriopathien (2012) (0)
Markennamen finden (2021) (0)
Gegenstand eines Designrechts (2021) (0)
Anmelden einer Marke (2021) (0)
Rechte des Inhabers eines eingetragenen Designs (2021) (0)
Durchsetzung eines Designrechts (2021) (0)
Deutsches Design (2021) (0)
Recherche nach Designrechten (2021) (0)
Ohne Anwalt zum Patent (2021) (0)
Bi-allelische Mutation des WAR2-Gens: eine seltene Ursache schwerer mentaler Retardierung und hyperkinetischer Bewegungsstörung (2019) (0)
Identifikation einer bisher nicht beschriebenen de novo Frameshift- Variante im PBX1-Gen bei einem Patienten mit dysplastischen Nieren und hypoplastischen Klavikulä (2018) (0)
Europäisches Design (2021) (0)
Wirtschaftskommunikation und Digitalisierung vor dem Hintergrund des Patentrechts (2019) (0)
Das europäische Design (2021) (0)
Wirkungen einer Marke (2021) (0)
Die deutsche Marke (2021) (0)
Grundlagen des gewerblichen Rechtsschutzes (2021) (0)
Beispiele aus der Praxis (2021) (0)
Grundsätzliches zum Markenrecht (2021) (0)
Wert einer Marke (2021) (0)
Das deutsche Design (2021) (0)
FV 697. Biallelic Mutations in SCYL1 Cause CALFAN-Syndrome (Cholestasis, Acute Liver Failure, and Neurodegeneration), A Congenital Disorder of Intracellular Trafficking with a Variable Neurological Phenotype (2018) (0)
Information der Öffentlichkeit: die Zusammenfassung (2021) (0)
Einleitung (2021) (0)
Innovationsmanagement (2021) (0)
Nichtigkeitsverfahren (2021) (0)
Evidence for genetic heterogeneity in Restless Legs Syndrome (2004) (0)
Vorlage für eine Bescheidserwiderung (2021) (0)
Management eines Markenportfolios (2021) (0)
Unionsmarke (2021) (0)
Das deutsche Gebrauchsmuster (2021) (0)
Markenrecht und Amazon (2021) (0)
Geheimhaltungsvereinbarung (2021) (0)
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (2022) (0)
Vorlage für eine Patentanmeldung (2021) (0)
Bestandteile einer Anmeldung (2021) (0)
Amazon und Designrecht (2021) (0)
Internationale Registrierung (2021) (0)
Recherche (2021) (0)
Benutzungszwang einer Marke (2021) (0)
Methoden zur Ideengewinnung, -bewertung und Projektumsetzung (2021) (0)
Die Unionsmarke (2021) (0)
Fragen und Antworten (2021) (0)
Antragsformulare (2021) (0)
Markenüberwachung (2021) (0)
Erfinderhandbuch (2021) (0)
Schutzwirkung (2021) (0)
In einen geteilten Kraftfahrzeugstabilisator eingebauter elektrischer Schwenkmotor (2005) (0)
Patentbewertung (2021) (0)
Beschreibung der Zeichnungen (2021) (0)
Title : Six new loci associated with body mass index highlight a neuronal influence on body weight regulation (0)
Analyse und Planung im Unternehmen (2021) (0)
Einleitung (2021) (0)
Benutzen einer fremden Marke (2021) (0)
Allgemeine Formerfordernisse (2021) (0)
Assoziation zwischen der genomweiten Genexpression im humanen Vollblut und Nüchtern- sowie 2-Stunden-Glukose: KORA F4 Studie (2011) (0)
Löschung einer Marke (2021) (0)
Genome-Wide Association Study Identifies Novel Risk Loci in Patients with Transposition of the Great Arteries and Anomalies of the Thoracic Arteries and Veins (2020) (0)
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (0)
Einleitender Teil der Beschreibung (2021) (0)
alters enhancer function in the developing telencephalon Meis 1 Restless Legs Syndrome-associated intronic common variant in Material Supplemental (2014) (0)
Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy. (2012) (0)
Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility (2018) (0)
Investigating the causal effect of smoking on hay fever and asthma: a Mendelian randomization meta-analysis in the CARTA consortium (2017) (0)
Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarction (2018) (0)
MEIS1 and BTBD9-genetic association with RLS in end-stage renal disease (2020) (0)
Analysis ofa terminal Xp22.3deletion ina patient withsixmonogenic disorders: implications forthemappingofX linked ocular (1993) (0)
Ansprüche (2021) (0)
[Neurogenetics. Part 3. New developments in gene mapping and diagnosis]. (1993) (0)
Evaluating the Causal Relation of ApoA-IV with Disease-Related Traits - A Bidirectional Two-sample Mendelian Randomization Study (2017) (0)
Multi-ancestry genome-wide association study accounting for gene-psychosocial factor interactions identifies novel loci for blood pressure traits (2020) (0)
Distribution of characteristics of the study population. (2015) (0)
P4.44 mitoNET – German network for mitochondrial disorders (2010) (0)
The PDXK rs2010795 Variant Is Not Associated with Parkinson Disease in Italy [reply] (2010) (0)
Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes (2017) (0)
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error (2014) (0)
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium (2014) (0)
Generation of a human induced pluripotent stem cell line (HMGUi002-A) from a healthy male individual. (2019) (0)
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency (2018) (0)
Large-scale mutation screening in combination with lentiviral complementation of rare variants aid gene identification in mitochondrial disorders (2011) (0)
Proteome analysis of the retina (2003) (0)
Abstract LB-182: Constitutive activation of PRKACA in adrenal Cushing's syndrome (2014) (0)

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