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List of works by Thomas Meitinger

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

scientific article

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

scientific article published on 4 January 2011

52 Genetic Loci Influencing Myocardial Mass

scientific article

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).

scientific article published on 14 February 2015

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

A Gene Locus Responsible for the Familial Hair Shaft Abnormality Pili Annulati Maps to Chromosome 12q24.32–24.33

article

A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila

scientific article

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

scientific article

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization

scientific article

A common genetic variant is associated with adult and childhood obesity

scientific article

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

article

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease

scientific article

A familial deletion in the Prader-Willi syndrome region including the imprinting control region

scientific article published on 01 January 1996

A familial deletion in the Prader‐Willi syndrome region including the imprinting control region

scientific article published in 1996

A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy

scientific article published in June 2008

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

scientific article

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa

scientific article

A genome-wide association meta-analysis on apolipoprotein A-IV concentrations

scientific article published on 12 July 2016

A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals

article

A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy

scientific article published on 12 July 2013

A genome-wide association study identifies three loci associated with mean platelet volume

scientific article published on 24 December 2008

A genome-wide perspective of genetic variation in human metabolism

scientific article

A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated β-myosin heavy chain genes

article

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

scientific article published on 2 February 2017

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

scientific article published on 18 November 2011

A meta-analysis of gene expression signatures of blood pressure and hypertension

scientific article (publication date: March 2015)

A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern

scientific article

A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level

scientific article

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

scientific article published on 10 April 2019

A multimetric approach to analysis of genome-wide association by single markers and composite likelihood

scholarly article

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

scientific article

A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors.

scientific article

A new family of interspersed repetitive DNA sequences in the mouse genome

scientific article published on May 1982

A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease

scientific article published on 10 October 2016

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

scientific article published on 6 December 2006

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

scientific article

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

scientific article

A novelLRRK2 mutation in an Austrian cohort of patients with Parkinson's disease

scholarly article by Dietrich Haubenberger et al published 2007 in Movement Disorders

A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier

scientific article

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa

scientific article published on September 2007

A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array.

scientific article

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures

scientific article published in March 2009

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)

scientific article published on 01 April 1994

A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave

scientific article

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

scientific article

ALOX5AP gene and the PDE4D gene in a central European population of stroke patients

scientific article published on 24 February 2005

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

scientific article

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

scientific article

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

scientific article published on 17 August 2016

Adolescent growth: genes, hormones and the peer group. Proceedings of the 20th Aschauer Soiree, held at Glücksburg castle, Germany, 15th to 17th November 2013.

scientific article published in March 2014

Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene

scientific article published in July 2009

An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

scientific article

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

scientific article

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

article

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassingSOX2

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

scientific article published on 3 March 2015

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism

scientific article

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X‐linked ichthyosis and mental retardation ⬇️

scientific article published on July 1, 1998

Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarction

Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products

scientific article

Analyzing illumina gene expression microarray data from different tissues: methodological aspects of data analysis in the metaxpress consortium

scientific article

Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration

scientific article published in January 2008

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

article

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

scientific article

Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FI

scientific article

Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans

scientific article

Associations between calcium and vitamin D supplement use as well as their serum concentrations and subclinical cardiovascular disease phenotypes

scientific article

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

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

scientific article published on 19 January 2016

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

scientific article published on 13 July 2016

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

scientific article published on 26 January 2017

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

scientific article

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

scientific article

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

scientific journal article

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome

scientific article

Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome

article

CAD mutations and uridine-responsive epileptic encephalopathy.

scientific article published on 21 December 2016

CLOCK gene variants associate with sleep duration in two independent populations

scientific article

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

scientific article published on 29 September 2017

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

scientific article

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

scientific article

Calmodulin mutations associated with recurrent cardiac arrest in infants

scientific article published on 06 February 2013

Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)

scientific article

Cell Specific eQTL Analysis without Sorting Cells

scientific article published on 8 May 2015

Cell specific eQTL analysis without sorting cells

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

article

Characterization of circular RNAs in human, mouse and rat hearts

scientific article

Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22

article

Clinical Picture, Evolution and Peculiar Molecular Findings in a Very Large Pedigree with Wolfram Syndrome

scientific article published on 01 December 2005

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

scientific article

Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse

scientific journal article

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

scientific article published on 2 March 2016

Cohen syndrome diagnosis using whole genome arrays

scientific article published on 4 October 2010

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

Common Variants in Myocardial Ion Channel Genes Modify the QT Interval in the General Population

article

Common genetic variants associate with serum phosphorus concentration

scientific article

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

scientific article

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction

scientific article

Common variants in KCNN3 are associated with lone atrial fibrillation

scientific article

Common variants in P2RY11 are associated with narcolepsy

scientific article

Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis

scientific article published on 24 October 2008

Common variants near MC4R are associated with fat mass, weight and risk of obesity

scientific article

Common variants of LRRK2 are not associated with sporadic Parkinson's disease

scholarly article by Saskia Biskup et al published December 2005 in Annals of Neurology

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

scientific article

Comprehensive catalog of European biobanks

scientific article published on 8 September 2011

Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies

scientific article published on September 2014

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

scientific article published on 26 February 2014

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

scientific article

Correction: Genetic Structure of Europeans: A View from the North–East

scientific article

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

scientific article published on 27 July 2009

Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

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.

scientific article

Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

scientific article published on 26 May 2017

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

scientific article published on 30 March 2015

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p

Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy

scientific article published on 7 July 2012

DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2

article

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

scientific article

DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor

scientific article published on November 1995

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family

scientific article published on 20 August 2014

Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

scientific article

Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus

article

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).

scientific article published on May 1998

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

scientific article published on 11 September 2015

DiGeorge syndrome and partial monosomy 10p: case report and review

scientific article published on January 1995

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

scientific article

Dilution of candidates: the case of iron-related genes in restless legs syndrome

scientific article published on 29 August 2012

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Discovery of sexual dimorphisms in metabolic and genetic biomarkers

scientific article

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

scientific article (publication date: 2001)

Do common genetic variants in endotoxin signaling pathway contribute to predisposition to alcoholic liver cirrhosis?

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

scientific article published on 10 November 2013

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

scientific article published on 16 January 2016

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

scientific article

Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study

scientific article

Effect of genome-wide simultaneous hypotheses tests on the discovery rate.

scientific article

Effects of metformin on metabolite profiles and LDL cholesterol in patients with type 2 diabetes

scientific article published on 5 August 2015

Electroretinography as a screening method for mutations causing retinal dysfunction in mice

scientific article published in February 2004

Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

scientific article published on 21 December 2016

Erratum: Common variants in P2RY11 are associated with narcolepsy

scholarly article published in Nature Genetics

Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article published in October 2016

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

article

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article published in November 2011

Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus

scholarly article published in Nature Genetics

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

scientific article published on 23 January 2018

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

scientific article

Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy

scientific article

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

scientific article

Exomdiagnostik verändert die Sicht auf Mitochondriopathien

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

scientific article

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

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

scientific article

Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death.

scientific article

Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p

scientific article (publication date: July 2002)

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

scientific article published on 15 October 2015

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

scientific article

Familial carpal tunnel syndrome: further evidence for a genetic contribution

article

Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

scientific article

Family-based association study of the restless legs syndrome loci 2 and 3 in a European population

scientific article

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

scientific article published on 17 June 2015

Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

scientific article published on November 1994

Fifteen Genetic Loci Associated With the Electrocardiographic P Wave

scientific article

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

scientific article published on 12 March 2015

Gene mapping and marker clustering using Shannon's mutual information

scientific article published in January 2006

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups

scientific article published on 8 December 2015

Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci

scientific article published on 05 May 2020

Gene-gene Interaction Analyses for Atrial Fibrillation

scientific article

Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome

scientific article published on 01 November 1992

Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene

scientific article published on 5 August 2016

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

scientific article published on 6 August 2016

Genes predict village of origin in rural Europe

scientific article

Genetic Diversity in German and European Populations: Looking for Substructures and Genetic Patterns

article

Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?

scientific article published on August 2016

Genetic Variants Associated With Atrial Fibrillation and PR Interval Following Cardiac Surgery

scientific article

Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids

scientific article published on 12 April 2012

Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy

scientific article

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

scientific article

Genetic determinants of circulating sphingolipid concentrations in European populations

scientific article published on 02 October 2009

Genetic determinants of serum testosterone concentrations in men.

scientific article

Genetic evidence of assortative mating in humans

scholarly article

Genetic insights into biological mechanisms governing human ovarian ageing

scientific article

Genetic regulation of serum phytosterol levels and risk of coronary artery disease

scientific article

Genetic structure in contemporary South Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. 2006

scientific article

Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms

scientific article

Genetic structure of Europeans: a view from the North-East

scientific article

Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data

scientific article

Genetic variants in RBFOX3 are associated with sleep latency

scientific article

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

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

scientific article published on 8 July 2009

Genetic variation in members of the leukotriene biosynthesis pathway confer an increased risk of ischemic stroke: a replication study in two independent populations

scientific article published on 6 March 2008

Genetic variation in soluble epoxide hydrolase (EPHX2) is associated with an increased risk of ischemic stroke in white Europeans

scientific article published on 6 March 2008

Genetic variation in the lymphotoxin-alpha pathway and the risk of ischemic stroke in European populations

scientific article published on 29 January 2009

Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum

scientific article

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

scientific article published in November 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Genome-wide association analysis identifies multiple loci related to resting heart rate

scientific article

Genome-wide association analysis identifies susceptibility loci for migraine without aura

scientific article

Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions

scientific article published on October 2008

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

scientific article published on 11 September 2019

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009

Genome-wide association studies of atrial fibrillation: past, present, and future

scientific article

Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels

scientific article

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

scientific article

Genome-wide association study identifies 74 loci associated with educational attainment

scientific article published on 11 May 2016

Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23

scholarly article by Jeanette Erdmann et al published 18 November 2010 in European Heart Journal

Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction

scientific article

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

scientific article

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

scientific journal article

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

scientific article

Genome-wide association study in takotsubo syndrome - Preliminary results and future directions

scientific article published on 15 January 2017

Genome-wide association study of PR interval

scientific article

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

scientific article

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

scientific article

Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study

scientific article

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.

scientific article

Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease

scientific article published on 8 February 2009

Genome-wide linkage analysis of serum creatinine in three isolated European populations.

scientific article published on 22 April 2009

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

scientific article

Genome-wide meta-analysis identifies new susceptibility loci for migraine

scientific article

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

scientific article

Genome-wide methylation data mirror ancestry information

scientific article

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

scientific article published on 20 March 2009

Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus

scientific article

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

scientific article

Genomewide association analysis of coronary artery disease

scientific article

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets

scientific article published in June 1997

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

scientific article published in February 2006

Geographic distribution and origin of CFTR mutations in Germany

scientific article

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

scientific article

Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

scientific article

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

scientific article published on 05 May 2012

How to link call rate and p-values for Hardy-Weinberg equilibrium as measures of genome-wide SNP data quality

scientific article

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

scientific article

Human metabolic individuality in biomedical and pharmaceutical research

scientific article (publication date: 31 August 2011)

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

scientific article

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

scientific article

INSIG2 promoter variant, obesity markers and lipid parameters - No association in a large Slavonic Caucasian population sample.

scientific article published on January 2010

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.

scientific article

Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report

scientific article published on 21 March 2017

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

article

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

scientific article published in December 2007

Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing

scientific article published on 22 February 2011

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

scientific article

Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

scientific article published on 13 January 2017

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.

scientific article published on 12 September 2017

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

scientific article

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

scientific article

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration

scientific article

Improved proteome analysis of Saccharomyces cerevisiae mitochondria by free-flow electrophoresis

article

In frame deletion (ΔF311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene

article

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

scientific article published on 30 May 2014

Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.

scientific article published in September 2004

Informatics and Medicine

Informatics and medicine--from molecules to populations

scientific article

Integrative analysis of the mitochondrial proteome in yeast

scientific article

Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen

scientific article published on 01 October 1996

Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13‐cen

scientific article published on 2 October 1996

LEOPARD-Syndrom mit Iris-Netzhaut-Aderhaut-Kolobom

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Lack of Association Between the MEF2A Gene and Myocardial Infarction

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Lack of association of genetic variants in genes of the endocannabinoid system with anorexia nervosa

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Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy

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Lack of replication in polymorphisms reported to be associated with atrial fibrillation

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Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

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Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

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Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

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Large scale replication and meta-analysis of variants on chromosome 4q25 associated with atrial fibrillation

scientific article published on 13 January 2009

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

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Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7

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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

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Linkage disequilibrium patterns and tagSNP transferability among European populations

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Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27? (DXS255)

scientific article published on 01 February 1989

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

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Loss-of-function mutations in APOC3, triglycerides, and coronary disease

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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

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Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

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Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

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Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients

scientific article published in June 2010

Lymphotoxin-α and galectin-2 SNPs are not associated with myocardial infarction in two different German populations

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MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease

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MITOP, the mitochondrial proteome database: 2000 update

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MITOP: database for mitochondria-related proteins, genes and diseases.

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MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

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MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

scientific article published on 10 February 2015

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

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Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

scientific article published on 10 October 2013

Mapping of Xp21 translocation breakpoints in and around the DMD gene by pulsed field gel electrophoresis

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Mapping the genetic architecture of gene regulation in whole blood

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Mechanisms for multiple intracellular localization of human mitochondrial proteins

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Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease

scientific article published on 10 May 2019

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

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Meta-analysis identifies six new susceptibility loci for atrial fibrillation

scientific article published on 29 April 2012

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

scientific article published in June 2009

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

scientific article published on 29 March 2016

Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations

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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

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Metformin Effect on Nontargeted Metabolite Profiles in Patients With Type 2 Diabetes and in Multiple Murine Tissues

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Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization

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Migraine without aura: genome-wide association analysis identifies several novel susceptibility.

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Migraine without aura: genome-wide association analysis identifies several novel susceptibility. ⬇️

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

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Missense mutations in the NDP gene in patients with a less severe course of Norrie disease

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MitoP2, an integrated database on mitochondrial proteins in yeast and man

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MitoP2: an integrative tool for the analysis of the mitochondrial proteome

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MitoP2: the mitochondrial proteome database--now including mouse data

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Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels

scientific article published on 6 May 2015

Mitochondrial genetic variants identified to be associated with BMI in adults

scientific article published in 2014

Mitochondrial genetic variants identified to be associated with posttraumatic stress disorder

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Mitochondrial membrane protein-associated neurodegeneration (MPAN).

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Mitochondriale Erkrankungen

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Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels

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Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

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Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

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Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

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Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

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Multiple regions of alpha-synuclein are associated with Parkinson's disease

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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

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Mutation analysis in the diagnosis of cystic fibrosis

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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.

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Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

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Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder

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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

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Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

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Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

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

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Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

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Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes

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Mutations in the candidate gene for Norrie disease

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Mutations in the deubiquitinase gene USP8 cause Cushing's disease

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Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

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Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

scientific article published on 17 May 2012

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

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NEK1 mutations in familial amyotrophic lateral sclerosis

scientific article published on 5 March 2016

NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality

scientific article published on 30 March 2017

Narcolepsy is strongly associated with the T-cell receptor alpha locus

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Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting

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Neonatal encephalocardiomyopathy caused by mutations in VARS2.

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Neurogenetics--the challenge for neurology. Part 1. Gene mapping and gene diagnostics

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Neurogenetics. Part 3. New developments in gene mapping and diagnosis

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Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import

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New susceptibility locus for coronary artery disease on chromosome 3q22.3.

scientific article published on 08 February 2009

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders

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Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

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No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents

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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.

scientific article published on July 2000

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

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Novel (ovario) leukodystrophy related to AARS2 mutations

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Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

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Novel biomarkers for pre-diabetes identified by metabolomics

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Novel calmodulin mutations associated with congenital arrhythmia susceptibility

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Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries

scientific article published on 18 June 2018

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

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Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

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Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

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PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

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PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes

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

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Pantothenate kinase-associated neurodegeneration

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Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease

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Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia

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Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

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Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment

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Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans

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Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

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Prevalence of refractive error in Europe: the European Eye Epidemiology (E(3)) Consortium

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Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany

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Procolipase gene: no association with early-onset obesity or fat intake

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Proteome analysis of mitochondrial outer membrane from Neurospora crassa

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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

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

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Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls

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Rare variants in LRRK1 and Parkinson's disease

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

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Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

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Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome

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Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

scientific article published on 9 April 2018

Replication of restless legs syndrome loci in three European populations

scientific article published on 10 March 2009

Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients

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Report of the second international workshop on human chromosome 10 mapping 1997

scientific article published on 01 January 1997

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?"

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Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon

scientific journal article

Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate

scholarly article by Florian D. Vogl et al published 2006 in Movement Disorders

Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.

scientific article published in February 2001

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

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Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance

scientific article published on 30 September 2010

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

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SNP-based analysis of genetic substructure in the German population.

scientific article

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families

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Sampling GWAS subjects from risk populations

scientific article published on 16 February 2011

Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant

scientific article published on 11 September 2015

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

scientific article published on 19 December 2017

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

scientific article (publication date: 2003)

Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke

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Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits

scientific article published on 3 August 2011

Seven new loci associated with age-related macular degeneration

scientific article

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

scientific article published on 2 May 2016

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

scientific article

Single-nucleotide polymorphisms of MMP-2 gene in stroke subtypes

scientific article

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

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Somatic gene therapy in animal models of Parkinson's disease.

scientific article

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

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Spectrum of combined respiratory chain defects

scientific article published on 17 March 2015

Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene

scientific journal article

Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly

scientific article published in May 2003

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13.

scientific article published on 10 January 2008

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

scientific article published on February 2017

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

scientific article

Systematic identification of trans eQTLs as putative drivers of known disease associations

scientific article (publication date: October 2013)

Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia

scientific article

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

scientific article published on 02 October 2019

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

scientific article

Targeting 160 candidate genes for blood pressure regulation with a genome-wide genotyping array

scientific article

Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation

scientific article published in March 2004

The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

The Mouse Pink-Eyed Dilution Gene: Association with Hypopigmentation in Prader-Willi and Angelman Syndromes and with Human OCA2

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The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity

scientific article

The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts

scientific article

The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting

scientific article (publication date: February 2001)

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.

scientific article published in March 2007

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

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The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

scientific article (publication date: February 2003)

The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome

scientific article published in June 2005

The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives

scientific article published on 5 June 2007

The many faces of paediatric mitochondrial disease on neuroimaging

scientific article

The mitochondrial proteome database: MitoP2.

scientific article

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)

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The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

scientific article

The role of biobanking in rare diseases: European consensus expert group report

scientific article published on September 2009

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

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Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

scientific article

Transcriptome and genome sequencing uncovers functional variation in humans

scientific article

Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure

scientific article published on 07 August 2017

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

scientific article published on 11 August 2014

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online

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VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

scientific article published on 24 June 2014

Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome

Variants in STAT5B Associate with Serum TC and LDL-C Levels

article published in 2011

Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry ⬇️

scientific article published on 13 July 2009

Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome

scientific article

Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery

scientific article

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

scientific article published on 06 August 2009

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

scientific article

Widening the view

article published in 1997

X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1

scientific article published on 01 March 2001

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

scientific article (publication date: April 2003)

Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language

scientific article

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

scientific article published on 17 May 2013

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