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Lista de obras de Peter Lichtner

A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

A genome-wide scan for signatures of recent selection in Holstein cattle

artículo científico

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

artículo científico publicado en 2011

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Abstract 12059: Incidental Findings in Cardiomyopathy and Channelopathy Genes Among 5891 Individuals Undergoing Whole-exome Sequencing. What Should be Reported?

artículo científico publicado en 2015

Age- and sex-specific causal effects of adiposity on cardiovascular risk factors

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 1998

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

scientific article published on 30 January 2020

Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder

scientific article published on 27 February 2020

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

artículo científico publicado en 2014

CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency

artículo científico publicado en 2018

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)

artículo científico publicado en 2007

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

scientific journal article

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency

artículo científico publicado en 2001

Common coding variant in SERPINA1 increases the risk for large artery stroke

artículo científico publicado en 2017

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

Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity

scientific article published on 01 February 2001

Comprehensive association analysis of the NOS2A gene with Parkinson disease

artículo científico publicado en 2006

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

scientific article published on 17 November 2020

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

Correction: Single Nucleotide Polymorphisms in Thyroid Hormone Transporter Genes MCT8, MCT10 and Deiodinase DIO2 Contribute to Inter-Individual Variance of Executive Functions and Personality Traits

scientific article published on 24 January 2020

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

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

artículo científico publicado en 2016

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

artículo científico publicado en 2014

De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.

artículo científico publicado en 1999

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

artículo científico publicado en 2014

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

artículo científico publicado en 1998

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

artículo científico publicado en 2012

Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome

artículo científico publicado en 2005

Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

articulo cientifico

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

artículo científico publicado en 2007

Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy

artículo científico publicado en 1999

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

artículo científico publicado en 2013

Further delineation of the association signal on chromosome 5 from the first whole genome association study in Parkinson's disease

scientific article published on 15 February 2008

GATA3 haplo-insufficiency causes human HDR syndrome

artículo científico publicado en 2000

GNAS gene variants affect β-blocker-related survival after coronary artery bypass grafting

artículo científico publicado en 2014

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

artículo científico publicado en 2013

Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Genetic and structural characterization of the human mitochondrial inner membrane translocase

artículo científico publicado en 1999

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

artículo científico publicado en 2010

Genetic determinants of the humoral immune response in MS

artículo científico publicado en 2020

Genetic diagnosis of Mendelian disorders via RNA sequencing

artículo científico publicado en 2017

Genetic diagnosis of Mendelian disorders via RNA sequencing

article

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

artículo científico publicado en 2015

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Genetic studies of body mass index yield new insights for obesity biology

artículo científico publicado en 2015

Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Genome-wide association analysis identifies three new breast cancer susceptibility loci

artículo científico publicado en 2012

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Genome-wide association study reveals genetic risk underlying Parkinson's disease

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

artículo científico publicado en 2010

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

artículo científico publicado en 2004

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

artículo científico publicado en 2015

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

artículo científico publicado en 2005

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

INS VNTR is not associated with childhood obesity in 1,023 families: a family-based study

artículo científico publicado en 2008

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

artículo científico publicado en 2014

Identification of Restless Legs Syndrome Genes by Mutational Load Analysis

artículo científico publicado en 2019

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis

artículo científico publicado en 2009

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

artículo científico publicado en 2006

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

artículo científico publicado en 2013

Integrating genetic, transcriptional, and functional analyses to identify 5 novel genes for atrial fibrillation

artículo científico publicado en 2014

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

artículo científico publicado en 2007

KDM2B is implicated in bovine lethal multi-organic developmental dysplasia

artículo científico publicado en 2012

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

artículo científico publicado en 2008

Large-scale TUBB4A mutational screening in isolated dystonia and controls

artículo científico publicado en 2015

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

artículo científico publicado en 2017

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

artículo científico publicado en 2015

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

artículo científico publicado en 2013

Large-scale replication and heterogeneity in Parkinson disease genetic loci

artículo científico publicado en 2012

Length Polymorphisms in Heme Oxygenase-1 and AKI after Cardiac Surgery

artículo científico publicado en 2016

Linkage disequilibrium patterns and tagSNP transferability among European populations

artículo científico publicado en 2005

Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration.

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

artículo científico publicado en 2018

MicroRNA related polymorphisms and breast cancer risk

artículo científico publicado en 2014

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

artículo científico publicado en 2013

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

artículo científico publicado en 2005

Mutational screening of THAP1 in a German population with primary dystonia

artículo científico publicado en 2011

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

artículo científico publicado en 2004

Mutations in RHOT1 Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease

scientific article published on 21 August 2019

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

article

Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease

artículo científico publicado en 2005

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

artículo científico publicado en 2009

New genetic loci link adipose and insulin biology to body fat distribution

artículo científico publicado en 2015

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk ⬇️

artículo científico publicado en 2016

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

artículo científico publicado en 2013

No Association of Sequence Variants in the Neuropeptide Y2 Receptor (NPY2R) Gene with Early Onset Obesity in Germans

article

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

article

No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585

scientific article published on 01 April 1999

Nonlocal Kardar-Parisi-Zhang equation to model interface growth

artículo científico publicado en 2001

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

artículo científico publicado en 2012

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

artículo científico publicado en 2014

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

artículo científico publicado en 2016

PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease

artículo científico publicado en 2009

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

artículo científico publicado en 2008

Polymorphism in the protease-activated receptor-4 gene region associates with platelet activation and perioperative myocardial injury

artículo científico publicado en 2012

Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study

artículo científico publicado en 2014

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

artículo científico publicado en 2004

Polymorphisms in the proteasomal subunit alpha4 are not associated with Parkinson's disease

artículo científico publicado en 2008

Polymorphisms in the receptor for GDNF (RET) are not associated with Parkinson's disease in Southern Germany

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Rare variants in LRRK1 and Parkinson's disease

artículo científico publicado en 2013

Rare variants in PLXNA4 and Parkinson's disease

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

Reply

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?"

artículo científico publicado en 2016

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

scientific journal article

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

artículo científico publicado en 2011

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

artículo científico publicado en 2020

SNCA: major genetic modifier of age at onset of Parkinson's disease

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

Seven new loci associated with age-related macular degeneration

artículo científico publicado en 2013

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect ⬇️

artículo científico publicado en 2021

Single Nucleotide Polymorphisms in Thyroid Hormone Transporter Genes MCT8, MCT10 and Deiodinase DIO2 Contribute to Inter-Individual Variance of Executive Functions and Personality Traits

scientific article published on 09 December 2019

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array

artículo científico publicado en 2015

Sudden Cardiac Arrest and Rare Genetic Variants in the Community.

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Targeted Genotyping Identifies Susceptibility Locus in Brain-derived Neurotrophic Factor Gene for Chronic Postsurgical Pain.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

The impact of genetic relationship information on genomic breeding values in German Holstein cattle

artículo científico publicado en 2010

The pattern of linkage disequilibrium in German Holstein cattle.

artículo científico publicado en 2010

The role ofSCARB2as susceptibility factor in Parkinson's disease

scholarly article by Franziska Hopfner et al published 13 February 2013 in Movement Disorders

The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations

artículo científico publicado en 2006

The transcription factor PITX3 is associated with sporadic Parkinson's disease

artículo científico publicado en 2009

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

scientific article published on 20 May 2020

Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.

artículo científico publicado en 2005

Understanding the role of genetic variability in LRRK2 in Indian population

scientific article published on 28 November 2018

Up-regulation of Cathepsin G in the Development of Chronic Postsurgical Pain: An Experimental and Clinical Genetic Study

artículo científico publicado en 2015

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

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Yersinia pestis genome sequencing identifies patterns of global phylogenetic diversity

artículo científico publicado en 2010

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