CF-GEN Publication
Publications
Back2024 Scientific Article in International Journal of Molecular Sciences Int. J. Mol. Sci. 25:8077 (2024)
The expression profiles of lncRNAs are associated with neoadjuvant chemotherapy resistance in locally advanced, luminal B-type breast cancer.
2024 Scientific Article in Molecular Psychiatry Mol. Psychiatry, DOI: 10.1038/s41380-024-02688-1 (2024)
A meta-analysis of genome-wide studies of resilience in the German population.
2024 Scientific Article in Cellular and Molecular Life Sciences - CMLS Cell. Mol. Life Sci. 81:309 (2024)
Transitions in chromatin conformation shaped by fatty acids and the circadian clock underlie hepatic transcriptional reorganization in obese mice.
2023 Scientific Article in Translational Oncology Transl. Oncol. 35:101706 (2023)
Accurate tumor purity determination is critical for the analysis of homologous recombination deficiency (HRD).
2022 Scientific Article in Molecular Systems Biology Mol. Syst. Biol. 18:e11129 (2022)
Probing cell identity hierarchies by fate titration and collision during direct reprogramming.
2022 Scientific Article in Science immunology Sci. Immunol. 7:eabe2634 (2022)
Human skin-resident host T cells can persist long term after allogeneic stem cell transplantation and maintain recirculation potential.
2022 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 31, 3367-3376 (2022)
First mitochondrial genome wide association study with metabolomics.
2022 Scientific Article in Journal of Parkinson's disease J. Parkinsons Dis. 12, 267-282 (2022)
Mendelian randomisation study of smoking, alcohol, and coffee drinking in relation to parkinson's disease.
2021 Scientific Article in Molecular Neurobiology Mol. Neurobiol. 58, 4639-4651 (2021)
Transcriptional profiles reveal deregulation of lipid metabolism and inflammatory pathways in neurons exposed to palmitic acid.
2021 Scientific Article in Nature Nature (2021)
Swarm Learning for decentralized and confidential clinical machine learning.
2021 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 87, 119-121 (2021)
The rare and the common: An Austrian DRPLA family harboring the European haplotype.
2021 Scientific Article in Movement Disorders Mov. Disord. 36, 1984-1985 (2021)
A recurrent VPS16 p.Arg187* nonsense variant in early-onset generalized dystonia.
2021 Scientific Article in Nature Protocols Nat. Protoc. 16, 1714-1739 (2021)
Simple and reliable detection of CRISPR-induced on-target effects by qgPCR and SNP genotyping.
2021 Scientific Article in Journal of the European Academy of Dermatology and Venereology J. Eur. Acad. Dermatol. Venereol. 35, 1386-1392 (2021)
Investigation of gamma secretase gene complex mutations in German population with Hidradenitis suppurativa designate a complex polygenic heritage.
2021 Scientific Article in Nature Genetics Nat. Genet. 53, 128-134 (2021)
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
2021 Scientific Article in Journal of Clinical Investigation J. Clin. Invest. 131:e141837 (2021)
Congenital heart disease risk loci identified by genome-wide association study in European patients.
2020 Scientific Article in Circulation Genomic and precision medicine Circ. Genom. Precis. Med. 13, 599-608 (2020)
Scn5a mutation type and a genetic risk score associate variably with brugada syndrome phenotype in scn5a families.
2020 Scientific Article in Heart Rhythm Heart Rhythm 17, 2145-2153 (2020)
Common and rare susceptibility genetic variants predisposing to Brugada syndrome in Thailand.
2020 Scientific Article in Experimental and Clinical Endocrinology & Diabetes Exp. Clin. Endocrinol. Diabet. 128, 573-581 (2020)
Single nucleotide polymorphisms in thyroid hormone transporter genes MCT8, MCT10 and deiodinase DIO2 contribute to inter-individual variance of executive functions and personality traits.
2020 Scientific Article in Frontiers in neurology Front. Neurol. 11:524 (2020)
Genetic architecture of parkinson’s disease in the indian population: Harnessing genetic diversity to address critical gaps in parkinson’s disease research.
2020 Scientific Article in Neurology Neuroimmunology & Neuroinflammation Neurol. Neuroimmunol. Neuroinflammation 7:e827 (2020)
Genetic determinants of the humoral immune response in MS.
2020 Scientific Article in Circulation Circulation 142, 324-338 (2020)
Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome.
2020 Scientific Article in Annals of Clinical and Translational Neurology Ann. Clin. Transl. Neurol. 7, 390-396 (2020)
Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.
2020 Scientific Article in Annals of Neurology Ann. Neurol. 87, 184-193 (2020)
Identification of restless legs syndrome genes by mutational load analysis.
2019 Scientific Article in Antioxidants & Redox Signaling Antioxid. Redox Signal. 31, 1213-1234 (2019)
Mutations in RHOT1 disrupt ER-mitochondria contact sites interfering with calcium homeostasis and mitochondrial dynamics in Parkinson's disease.
2019 Scientific Article in Neurology Neurology 92, E1176-E1187 (2019)
Relative effects of LDL-C on ischemic stroke and coronary disease: A Mendelian randomization study.
2019 Scientific Article in Movement Disorders Mov. Disord. 34, 496-505 (2019)
Understanding the role of genetic variability in LRRK2 in Indian population.
2018 Scientific Article in Neurology Genetics Neurol. Genet. 4:e293 (2018)
Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes.
2018 Scientific Article in JAMA neurology JAMA Neurol. 75, 860-875 (2018)
Selective genetic overlap between amyotrophic lateral sclerosis and diseases of the frontotemporal dementia spectrum.
2018 Scientific Article in Nature Genetics Nat. Genet. 52, 1112-1121 (2018)
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
2018 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 103, 74-88 (2018)
MPZL2, encoding the epithelial junctional protein myelin protein zero-like 2, is essential for hearing in man and mouse.
2018 Scientific Article in Human Genetics Hum. Genet. 137, 389-400 (2018)
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
2018 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 27, 706-715 (2018)
CHCHD10 mutations p. R15L and p. G66V cause motoneuron disease by haploinsufficiency.
2018 Scientific Article in Anesthesiology Anesthesiology 128, 587-597 (2018)
Targeted genotyping identifies susceptibility locus in brain-derived neurotrophic factor gene for chronic postsurgical pain.
2018 Scientific Article in Gut (eGut) Gut 67, 1855–186 (2018)
Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.
2017 Scientific Article in Biostatistics Biostatistics 18, 477-494 (2017)
A powerful and efficient two-stage method for detecting gene-to-gene interactions in GWAS.
2017 Scientific Article in European Journal of Human Genetics Eur. J. Hum. Genet. 25, 137-146 (2017)
Across-cohort QC analyses of GWAS summary statistics from complex traits.
2017 Scientific Article in Brain: A Journal of Neurology Brain 140, 3191-3203 (2017)
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
2017 Scientific Article in JAMA neurology JAMA Neurol. 74, 780-792 (2017)
Genome-wide pleiotropy between Parkinson disease and autoimmune diseases.
2017 Scientific Article in Nature Communications Nat. Commun. 8:15824 (2017)
Genetic diagnosis of Mendelian disorders via RNA sequencing.
2017 Scientific Article in Nature Genetics Nat. Genet. 49, 946-952 (2017)
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.
2017 Scientific Article in Nature Communications Nat. Commun. 8:14774 (2017)
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
2017 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 114, 3613-3618 (2017)
Common coding variant in SERPINA1 increases the risk for large artery stroke.
2017 Scientific Article in Genome Biology Genome Biol. 18:22 (2017)
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
2017 Scientific Article in Neurobiology of Aging Neurobiol. Aging 49, 217.e1-217.e4 (2017)
Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: Analysis of a large multicenter study.
2016 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 25, 5483-5489 (2016)
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: Evidence for oligogenic inheritance.
2016 Letter to the Editor in Circulation: Cardiovascular Genetics Circ. Cardiovasc. Genet. 9, 581-582 (2016)
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 Scientific Article in Nature Communications Nat. Commun. 7:13357 (2016)
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.
2016 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 113, 13366-13371 (2016)
Genetic variants linked to education predict longevity.
2016 Scientific Article in Neurology Neurology 86, 1217-1226 (2016)
Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration.
2016 Scientific Article in Circulation: Cardiovascular Genetics Circ. Cardiovasc. Genet. 9, 330-339 (2016)
Genetic modifiers for the long-QT syndrome: How important Is the role of variants in the 3' untranslated region of KCNQ1?
2016 Scientific Article in Nature Genetics Nat. Genet. 48, 1043-1048 (2016)
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
2016 Scientific Article in Science Advances Sci. Adv. 2:e1501678 (2016)
Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.
2016 Scientific Article in Cancer Research Cancer Res. 76, 5103-5114 (2016)
Cross-cancer genome-wide analysis of lung, ovary, breast, prostate and colorectal cancer reveals novel pleiotropic associations.
2016 Scientific Article in Journal of the American Society of Nephrology J. Am. Soc. Nephrol. 27, 3291-3297 (2016)
Length polymorphisms in heme oxygenase-1 and AKI after cardiac surgery.
2016 Scientific Article in Nature Nature 533, 539-542 (2016)
Genome-wide association study identifies 74 loci associated with educational attainment.
2016 Scientific Article in Lancet Neurology, The Lancet Neurol. 15, 585-596 (2016)
Deletions at 22q11.2 in idiopathic Parkinson's disease: A combined analysis of genome-wide association data.
2016 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 98, 500-513 (2016)
Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy.
2016 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 25, 2082-2092 (2016)
Testing the role of predicted gene knockouts in human anthropometric trait variation.
2016 Scientific Article in Neurobiology of Aging Neurobiol. Aging 38, 214.e7-214.e10 (2016)
Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases.
2016 Scientific Article in Nature Communications Nat. Commun. 7:10495 (2016)
New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.
2016 Scientific Article in Circulation: Cardiovascular Genetics Circ. Cardiovasc. Genet. 9, 147-153 (2016)
Sudden cardiac arrest and rare genetic variants in the community.
2015 Scientific Article in Molecular Psychiatry Mol. Psychiatry 20, 1588-1595 (2015)
Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus.
2015 Scientific Article in Neurology Genetics Neurol. Genet. 1:e9 (2015)
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.
2015 Scientific Article in Nature Genetics Nat. Genet. 47, 1415-1425 (2015)
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
2015 Scientific Article in Genetic Epidemiology Genet. Epidemiol. 39, 601-608 (2015)
Successful replication of GWAS hits for multiple sclerosis in 10,000 Germans using the exome array.
2015 Scientific Article in Neurology Neurology 85, 1283-1292 (2015)
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.
2015 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 24, 6711-6720 (2015)
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
2015 Scientific Article in Neurobiology of Aging Neurobiol. Aging 36, 2907.e13-2907.e17 (2015)
Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts.
2015 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 21, 1278-1281 (2015)
Large-scale TUBB4A mutational screening in isolated dystonia and controls.
2015 Scientific Article in Anesthesiology Anesthesiology 123, 838-850 (2015)
Up-regulation of cathepsin G in the development of chronic postsurgical pain: An experimental and clinical genetic study.
2015 Meeting abstract in Movement Disorders Mov. Disord. 30, S412 (2015)
Genome wide pleiotropic study in 144,701 subjects reveals shared genetic variants between Parkinson's disease and immune-mediated diseases.
2015 Scientific Article in Lancet Neurology, The Lancet Neurol. 14, 678-679 (2015)
CHCHD2 and Parkinson's disease.
2015 Scientific Article in Molecular Psychiatry Mol. Psychiatry 20, 735-743 (2015)
The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25 000 subjects.
2015 Scientific Article in Movement Disorders Mov. Disord. 30, 850-854 (2015)
Genetic risk and age in Parkinson's disease: Continuum not stratum.
2015 Scientific Article in Journal of Cardiothoracic and Vascular Anesthesia J. Cardiothorac. Vasc. Anesth. 29, 605-610 (2015)
Genetic variants associated with atrial fibrillation and PR interval following cardiac surgery.
2015 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 96, 883-893 (2015)
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
2015 Scientific Article in Annals of Neurology Ann. Neurol. 77, 582-591 (2015)
Polygenic risk of Parkinson disease is correlated with disease age at onset.
2015 Meeting abstract in Human Heredity Hum. Hered. 79, 32-33 (2015)
Exome array GWAS in 10,000 Germans identifies association between MUC22 and multiple sclerosis.
2015 Scientific Article in Nature Neuroscience Nat. Neurosci. 18, 631-636 (2015)
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
2015 Scientific Article in Circulation: Cardiovascular Genetics Circ. Cardiovasc. Genet. 8, 447-456 (2015)
Analysis for genetic modifiers of disease severity in patients with long QT syndrome type 2.
2015 Scientific Article in Diabetes Diabetes 64, 1841-1852 (2015)
Age- and sex-specific causal effects of adiposity on cardiovascular risk factors.
2015 Scientific Article in Neuromolecular Medicine Neuromol. Med. 17, 111-120 (2015)
A candidate gene association study identifies DAPL1 as a female-specific susceptibility locus for Age-related Macular Degeneration (AMD).
2015 Scientific Article in Nature Nature 518, 197-206 (2015)
Genetic studies of body mass index yield new insights for obesity biology.
2015 Scientific Article in Nature Nature 518, 187-196 (2015)
New genetic loci link adipose and insulin biology to body fat distribution.
2015 Scientific Article in European Journal of Human Genetics Eur. J. Hum. Genet. 23, 1328-1333 (2015)
Rare variants in β-Amyloid Precursor Protein (APP) and Parkinson's disease.
2015 Scientific Article in Molecular Psychiatry Mol. Psychiatry 20, 647-656 (2015)
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
2015 Scientific Article in Gut (eGut) Gut 64, 1426-1433 (2015)
Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study.
2014 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 23, 831-841 (2014)
Genetic comorbidities in Parkinson's disease.
2014 Scientific Article in Lancet Respiratory Medicine, The Lancet Resp. Med. 3, 53-60 (2014)
Genome-wide association study of survival from sepsis due to pneumonia: An observational cohort study.
2014 Scientific Article in PLoS ONE PLoS ONE 9:e109973 (2014)
MicroRNA related polymorphisms and breast cancer risk.
2014 Scientific Article in Nature Genetics Nat. Genet. 46, 1173-1186 (2014)
Defining the role of common variation in the genomic and biological architecture of adult human height.
2014 Scientific Article in Movement Disorders Mov. Disord. 29, 1504-1510 (2014)
DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family.
2014 Scientific Article in Circulation Circulation 130, 1225-1235 (2014)
Integrating genetic, transcriptional, and functional analyses to identify five novel genes for atrial fibrillation.
2014 Scientific Article in Neurobiology of Aging Neurobiol. Aging 35, 1512.e5-1512.e10 (2014)
Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease.
2014 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 95, 85-95 (2014)
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.
2014 Scientific Article in Circulation: Cardiovascular Genetics Circ. Cardiovasc. Genet. 7, 466-474 (2014)
Novel calmodulin (CALM2) mutations associated with congenital arrhythmia susceptibility.
2014 Scientific Article in PLoS ONE PLoS ONE 9:e98092 (2014)
Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome.
2014 Scientific Article in Anesthesiology Anesthesiology 120, 1109-1117 (2014)
GNAS gene variants affect β-blocker-related survival after coronary artery bypass grafting.
2014 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 111, 2626-2631 (2014)
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.
2014 Scientific Article in Genome Research Genome Res. 24, 592-603 (2014)
Restless Legs Syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon.
2014 Scientific Article in Ophthalmology Ophthalmology 121, 905-910 (2014)
Polymorphisms in vascular endothelial growth factor receptor 2 are associated with better response rates to ranibizumab treatment in age-related macular degeneration.
2014 Scientific Article in Neurogenetics Neurogenetics 15, 49-57 (2014)
Rare variants in LRRK1 and Parkinson's disease.
2014 Scientific Article in Movement Disorders Mov. Disord. 29, 143-147 (2014)
Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
2013 Scientific Article in PLoS ONE PLoS ONE 8:e82879 (2013)
Niemann-pick C disease gene mutations and age-related neurodegenerative disorders.
2013 Scientific Article in PLoS Medicine PLoS Med. 10, 4270-4276:e1001462 (2013)
Serum iron levels and the risk of Parkinson disease: A mendelian randomization study.
2013 Scientific Article in PLoS ONE PLoS ONE 8:e79145 (2013)
Rare variants in PLXNA4 and Parkinson's disease.
2013 Scientific Article in Nature Genetics Nat. Genet. 45, 1353-1360 (2013)
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
2013 Scientific Article in PLoS ONE PLoS ONE 8:e70724 (2013)
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.
2013 Scientific Article in Movement Disorders Mov. Disord. 28, 1217-1221 (2013)
SNCA: Major genetic modifier of age at onset of Parkinson's disease.
2013 Scientific Article in Journal of Neurology, Neurosurgery, and Psychiatry J. Neurol. Neurosurg. Psychiatr. 84, 666-673 (2013)
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
2013 Scientific Article in Science Science 340, 1467-1471 (2013)
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
2013 Scientific Article in Journal of Dairy Science J. Dairy Sci. 96, 3959-3964 (2013)
Genome-wide association analysis identifies loci for left-sided displacement of the abomasum in German Holstein cattle.
2013 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 92, 489-503 (2013)
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.
2013 Scientific Article in Movement Disorders Mov. Disord. 28, 538-540 (2013)
The role of SCARB2 as susceptibility factor in Parkinson's disease.
2013 Scientific Article in Nature Genetics Nat. Genet. 45, 392-398 (2013)
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
2013 Scientific Article in Nature Genetics Nat. Genet. 45, 353-361 (2013)
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
2013 Scientific Article in Nature Genetics Nat. Genet. 45, 433-439 (2013)
Seven new loci associated with age-related macular degeneration.
2013 Scientific Article in Circulation Circulation 127, 1009-1017 (2013)
Calmodulin mutations associated with recurrent cardiac arrest in infants.
2013 Scientific Article in PLoS Genetics PLoS Genet. 9:e1003270 (2013)
ImmunoChip study implicates antigen presentation to T cells in narcolepsy.
2013 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 22, 1039-1049 (2013)
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.
2013 Scientific Article in Annals of Neurology Ann. Neurol. 73, 86-94 (2013)
Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis.
2013 Scientific Article in Molecular Psychiatry Mol. Psychiatry 18, 122-132 (2013)
A KATP channel gene effect on sleep duration: From genome-wide association studies to function in Drosophila.
2013 Scientific Article in European Journal of Human Genetics Eur. J. Hum. Genet. 21, 410-414 (2013)
Dilution of candidates: The case of iron-related genes in restless legs syndrome.
2012 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 21, 4996-5009 (2012)
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.
2012 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 21, 5373-5384 (2012)
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
2012 Scientific Article in Journal of Medical Genetics J. Med. Genet. 49, 721-726 (2012)
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
2012 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 91, 754-759 (2012)
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
2012 Scientific Article in PLoS ONE PLoS ONE 7:e45634 (2012)
KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.
2012 Scientific Article in Heart Rhythm Heart Rhythm 9, 1627-1634 (2012)
A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern.
2012 Scientific Article in Neurogenetics Neurogenetics 13, 281-285 (2012)
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.
2012 Scientific Article in Circulation: Cardiovascular Genetics Circ. Cardiovasc. Genet. 5, 91-99 (2012)
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes.
2012 Scientific Article in Neurogenetics Neurogenetics 13, 181-187 (2012)
Replication study of Multiple Sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
2012 Scientific Article in PLoS ONE PLoS ONE 7:e38823 (2012)
A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.
2012 Scientific Article in Nature Genetics Nat. Genet. 44, 312-319 (2012)
Genome-wide association analysis identifies three new breast cancer susceptibility loci.
2012 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 18, 104-106 (2012)
Mutational screening of THAP1 in a German population with primary dystonia.
2012 Scientific Article in American Journal of Hematology Am. J. Hematol. 87, 161-166 (2012)
Polymorphism in the protease-activated receptor-4 gene region associates with platelet activation and perioperative myocardial injury.
2011 Scientific Article in Pathology Pathology 43, 220-227 (2011)
A gene signature distinguishing CD133hi from CD133- colorectal cancer cells: Essential role for EGR1 and downstream factors.
2011 Scientific Article in Neurobiology of Aging Neurobiol. Aging 32, 2108.e1-2108.e5 (2011)
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.
2011 Scientific Article in PLoS Genetics PLoS Genet. 7:e1002304 (2011)
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.
2011 Scientific Article in BMC Neurology BMC Neurology 11:134 (2011)
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
2011 Scientific Article in Neurology Neurology 76, 1106-1108 (2011)
Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome.
2011 Scientific Article in Nature Nature 477, 54-60 (2011)
Human metabolic individuality in biomedical and pharmaceutical research.
2011 Scientific Article in PLoS Genetics PLoS Genet. 7:e1002171 (2011)
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
2011 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 89, 168-175 (2011)
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
2011 Scientific Article in PLoS Genetics PLoS Genet. 7:e1002142 (2011)
A two-stage meta-analysis identifies several new loci for Parkinson's disease.
2011 Scientific Article in Journal of Medical Genetics J. Med. Genet. 48, 462-466 (2011)
MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease.
2011 Scientific Article in Lancet, The Lancet 377, 641-649 (2011)
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: A meta-analysis of genome-wide association studies.
2011 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 20, 1042-1047 (2011)
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
2011 Scientific Article in Cancer Research Cancer Res. 71, 693-704 (2011)
Dynamic mathematical modeling of IL13-induced signaling in Hodgkin and primary mediastinal B-Cell lymphoma allows prediction of therapeutic targets.
2010 Scientific Article in Nature Genetics Nat. Genet. 42, 1140-1143 (2010)
Yersinia pestis genome sequencing identifies patterns of global phylogenetic diversity.
2010 Scientific Article in Gut (eGut) Gut 59, 1236-1244 (2010)
Expression of an ASCL2 related stem cell signature and IGF2 in colorectal cancer liver metastases with 11p15.5 gain.
2010 Scientific Article in Animal Genetics Anim. Genet. 41, 377-389 (2010)
A genome-wide scan for signatures of recent selection in Holstein cattle.
2010 Scientific Article in PLoS Genetics PLoS Genet. 6:e1001167 (2010)
Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy.
2010 Scientific Article in Circulation: Cardiovascular Genetics Circ. Cardiovasc. Genet. 3, 331-339 (2010)
Genetic regulation of serum phytosterol levels and risk of coronary artery disease.
2010 Scientific Article in Neurobiology of Aging Neurobiol. Aging 31, 167-168 (2010)
Polymorphisms in the receptor for GDNF (RET) are not associated with Parkinson's disease in Southern Germany.
2010 Scientific Article in Genetics Selection Evolution Genet. Sel. Evol. 42:5 (2010)
The impact of genetic relationship information on genomic breeding values in German Holstein cattle.
2010 Scientific Article in Nature Genetics Nat. Genet. 42, 410-414 (2010)
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
2010 Scientific Article in Nature Genetics Nat. Genet. 42, 688-691 (2010)
Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction.
2010 Scientific Article in Statistics in Medicine Stat. Med. 29, 2347-2358 (2010)
How to link call rate and p-values for Hardy-Weinberg equilibrium as measures of genome-wide SNP data quality.
2010 Scientific Article in Animal Genetics Anim. Genet. 41, 346-356 (2010)
The pattern of linkage disequilibrium in German Holstein cattle.
2010 Scientific Article in International Journal of Cancer Int. J. Cancer 126, 2858-2862 (2010)
Low risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients.
2009 Scientific Article in Circulation: Cardiovascular Genetics Circ. Cardiovasc. Genet. 2, 499-506 (2009)
Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery.
2009 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 15, 532-534 (2009)
PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease.
2009 Scientific Article in Nature Genetics Nat. Genet. 41, 1308-1314 (2009)
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
2009 Scientific Article in Annals of Neurology Ann. Neurol. 66, 792-798 (2009)
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.
2009 Scientific Article in Obesity Facts Obes. Facts 2, 40-44 (2009)
Procolipase gene: No association with early-onset obesity or fat intake.
2009 Scientific Article in Neurobiology of Aging Neurobiol. Aging 30, 1706-1709 (2009)
Further delineation of the association signal on chromosome 5 from the first whole genome association study in Parkinson's disease.
2009 Scientific Article in Anesthesiology Anesthesiology 110, 738-747 (2009)
Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.
2009 Scientific Article in Stroke Stroke 40, 970-972 (2009)
Genetic variation in the lymphotoxin-alpha pathway and the risk of ischemic stroke in European populations.
2009 Scientific Article in PLoS ONE PLoS ONE 4:e6034 (2009)
Targeting 160 candidate genes for blood pressure regulation with a genome-wide genotyping array.
2009 Scientific Article in Neurology Neurology 72, 974-978 (2009)
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.
2009 Scientific Article in Journal of Neurology J. Neurol. 256, 1337-1342 (2009)
Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.
2009 Scientific Article in Journal of Medical Genetics J. Med. Genet. 46, 315-318 (2009)
Replication of restless legs syndrome loci in three European populations.
2009 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 18, 2288-2296 (2009)
Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.
2009 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 84, 66-71 (2009)
A genome-wide association study identifies three loci associated with mean platelet volume.
2009 Scientific Article in Neurobiology of Aging Neurobiol. Aging 30, 731-738 (2009)
The transcription factor PITX3 is associated with sporadic Parkinson's disease.
2009 Scientific Article in European Journal of Human Genetics Eur. J. Hum. Genet. 17, 352-356 (2009)
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families.
2008 Scientific Article in Child and Adolescent Psychiatry and Mental Health Child Adolesc. Psychiatry Ment. Health 2:33 (2008)
Lack of association of genetic variants in genes of the endocannabinoid system with anorexia nervosa.
2008 Scientific Article in Cerebrovascular Diseases Cerebrovasc. Dis. 26, 113-119 (2008)
Single-nucleotide polymorphisms of MMP-2 gene in stroke subtypes.
2008 Scientific Article in Neurogenetics Neurogenetics 9, 75-82 (2008)
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13.
2008 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 82, 188-193 (2008)
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
2008 Scientific Article in Obesity Obesity 16, 1471-1475 (2008)
INS VNTR is not associated with childhood obesity in 1,023 families: A family-based study.
2008 Scientific Article in European Journal of Human Genetics Eur. J. Hum. Genet. 16, 1126-1134 (2008)
Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: First evidence of polar overdominance in humans.
2008 Scientific Article in Nature Genetics Nat. Genet. 40, 946-948 (2008)
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.
2008 Scientific Article in Stroke Stroke 39, 1593-1596 (2008)
Genetic variation in soluble epoxide hydrolase (EPHX2) is associated with an increased risk of ischemic stroke in white Europeans.
2008 Scientific Article in Journal of Neurology J. Neurol. 255, 441-442 (2008)
Polymorphisms in the proteasomal subunit alpha4 are not associated with Parkinson's disease.
2008 Scientific Article in Movement Disorders Mov. Disord. 23, 350-358 (2008)
Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome.
2007 Scientific Article in Hormone and Metabolic Research Horm. Metab. Res. 39, 840-844 (2007)
No association of sequence variants in the neuropeptide Y2 receptor (NPY2R) gene with early onset obesity in Germans.
2007 Scientific Article in Molecular Genetics and Metabolism Mol. Genet. Metab. 90, 429-434 (2007)
No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents.
2007 Scientific Article in Movement Disorders Mov. Disord. 22, 207-212 (2007)
Family-based association study of the restless legs syndrome loci 2 and 3 in a European population.
2007 Scientific Article in Nature Genetics Nat. Genet. 39, 1000-1006 (2007)
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
2007 Scientific Article in Movement Disorders Mov. Disord. 22, 1640-1643 (2007)
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
2007 Scientific Article in Human Mutation Hum. Mutat. 28, 718-723 (2007)
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
2007 Scientific Article in Human Mutation Hum. Mutat. 28, 406-413 (2007)
Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).
2006 Scientific Article in Neurology Neurology 67, 2029-2031 (2006)
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
2006 Scientific Article in Journal of Medical Genetics J. Med. Genet. 43, 557-562 (2006)
The Sepiapterin reductase gene region reveals association in the PARK3 locus: Analysis of familial and sporadic Parkinson disease in European populations.
2006 Scientific Article in Neurogenetics Neurogenetics 7, 265-268 (2006)
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.
2006 Scientific Article in Neurology Neurology 67, 2080-2082 (2006)
Comprehensive association analysis of the NOS2A gene with Parkinson disease.
2006 Scientific Article in Cancer Cell Cancer Cell 10, 363-374 (2006)
Acute myeloid leukemia is propagated by a leukemic stem cell with lymphoid characteristics in a mouse model of CALM/AF10-positive leukemia.
2006 Scientific Article in Human Heredity Hum. Hered. 62, 20-29 (2006)
SNP-based analysis of genetic substructure in the Germany population.
2006 Scientific Article in Movement Disorders Mov. Disord. 21, 28-33 (2006)
Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
2006 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 78, 193-201 (2006)
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
2006 Scientific Article in Journal of Clinical Endocrinology & Metabolism, The J. Clin. Endocrinol. Metab. 91, 1761-1769 (2006)
Prevalence, spectrum and functional characterization of Melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.
2005 Scientific Article in Brain: A Journal of Neurology Brain 128, 3000-3011 (2005)
Type and frequency of mutations in the LRRK2 gene in familial ans sporadic Parkinson's disease.
2005 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 76, 387-398 (2005)
Linkage disequilibrium patterns and tagSNP transferability among European populations.
2005 Scientific Article in Human Molecular Genetics Hum. Mol. Genet. 14, 3227-3236 (2005)
Hypoethical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.
2005 Letter to the Editor in Neurogenetics Neurogenetics 6, 55-56 (2005)
Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome.
2005 Scientific Article in Neuroscience Letters Neurosci. Lett. 379, 195-198 (2005)
Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.
2005 Scientific Article in Annals of Neurology Ann. Neurol. 58, 905-908 (2005)
Common variants of LRRK2 are not associated with sporadic parkinson's disease.
2005 Scientific Article in Annals of Neurology Ann. Neurol. 57, 535-541 (2005)
Multiple regions of alpha-synuclein are associated with parkinson's disease.
2004 Scientific Article in Journal of Clinical Endocrinology & Metabolism, The J. Clin. Endocrinol. Metab. 89, 157-162 (2004)
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 Scientific Article in Neuron Neuron 44, 601-607 (2004)
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
2004 Scientific Article in Nature Genetics Nat. Genet. 36, 1319-1325 (2004)
Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment.
2003 Scientific Article in Human Mutation Hum. Mutat. 21, 45-52 (2003)
Sequence diversity of KIAA0027/MLC1: Are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?
2003 Scientific Article in American Journal of Ophthalmology Am. J. Ophthalmol. 135, 681-687 (2003)
Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly.
2002 Scientific Article in Journal of Molecular Medicine J. Mol. Med. 80, 431-442 (2002)
Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p.
2000 Scientific Article in Journal of Medical Genetics J. Med. Genet. 37, 33-37 (2000)
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.
2000 Scientific Article in Nature Nature 406, 419-242 (2000)
GATA3 haplo-insufficiency causes human HDR syndrome.
1993 Scientific Article in Zeitschrift der Ärztekammer Hamburg und der Kassenärztlichen Vereinigung Hamburg Hamburger Ärzteblatt 11, 338-343 (1993)