List of works by Peter Lichtner

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

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

scientific article

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

scientific article published on 24 December 2008

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

scientific article published on 21 January 2010

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

scientific article

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

scientific article

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

scientific article

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

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

scientific article published on 23 November 2016

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

scientific article published in March 2009

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

scientific article

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

scientific article published on 23 February 2015

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

scientific article published on 3 March 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

scientific article

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

scientific article

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

scientific article published on 5 January 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)

scientific article

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

scientific article (publication date: June 2001)

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

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

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

scientific article published in December 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

scientific article

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

scientific article published on 20 August 2014

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

scientific article published on March 1999

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

scientific 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

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

scientific article published on 29 August 2012

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

scientific article

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

scientific article published in July 2017

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

scientific article

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

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)

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

scientific article

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

scientific article

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

scientific article published on 27 March 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

scientific article

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

scientific article

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

scientific article published on 21 June 2013

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

scientific article published on 18 June 2020

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 and structural characterization of the human mitochondrial inner membrane translocase

scientific article

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

scientific article

Genetic determinants of the humoral immune response in MS

scientific article published on 16 July 2020

Genetic diagnosis of Mendelian disorders via RNA sequencing

scientific article published on 12 June 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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 7 December 2012

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

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 three new breast cancer susceptibility loci

scientific article published on 22 January 2012

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

scientific article published in April 2013

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

scientific article published on 11 May 2016

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

scientific article

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

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 association study reveals genetic risk underlying Parkinson's disease

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

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

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

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

scientific article

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

scientific article

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

scientific article published on 12 May 2018

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

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

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

scientific article

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

scientific article

Identification of Restless Legs Syndrome Genes by Mutational Load Analysis

scientific article published on 19 December 2019

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

scientific article

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

scientific article

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

scientific article

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

scientific article published on 14 August 2014

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

scientific article published in July 2007

KDM2B is implicated in bovine lethal multi-organic developmental dysplasia

scientific article

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

scientific article

Large-scale TUBB4A mutational screening in isolated dystonia and controls

scientific article published on 20 August 2015

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

scientific article

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

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

scientific article

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

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

scientific article published on 2 June 2016

Linkage disequilibrium patterns and tagSNP transferability among European populations

scientific article

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

scientific article

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

scientific article published in June 2010

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

scientific article

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

scientific article published on 28 June 2018

MicroRNA related polymorphisms and breast cancer risk

scientific article

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

scientific article published on April 2013

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

scientific article

Mutational screening of THAP1 in a German population with primary dystonia

scientific article

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

scientific article (publication date: 18 November 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

scientific article (publication date: 13 May 2005)

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

scientific article

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

scientific article

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

scientific article published on February 2016

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

scientific article (publication date: 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

scientific article

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

scientific article

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

scientific article

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

scientific article

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

scientific article published on 10 June 2014

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

scientific article published on 17 June 2016

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

scientific article

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

scientific article published on 27 July 2008

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

scientific article

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

scientific article published on 24 September 2014

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

scientific article

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

scientific article published on 14 March 2008

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

scientific article

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

scientific article published on 9 April 2008

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

scientific article published on 21 February 2006

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

scientific article

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

scientific article

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

scientific article

Rare variants in LRRK1 and Parkinson's disease

scientific article

Rare variants in PLXNA4 and Parkinson's disease

scientific article

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

scientific article

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

scientific article published on 21 May 2015

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

scientific article published on 01 October 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?"

scientific article

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

scientific article published on 22 July 2011

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

scientific article published on 09 November 2020

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

scientific article published on 14 May 2013

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

scientific article

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

scientific article (publication date: 2003)

Seven new loci associated with age-related macular degeneration

scientific article

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

journal article from 'Nature Genetics' published in 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

scientific article

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

scientific article

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

scientific article published in May 2003

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

scientific article published on 26 October 2015

Sudden Cardiac Arrest and Rare Genetic Variants in the Community.

scientific article published on 22 January 2016

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

scientific article published on 10 January 2008

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

scientific article published on 9 November 2017

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

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

scientific article

The pattern of linkage disequilibrium in German Holstein cattle.

scientific article published on 3 January 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

scientific article

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

scientific article

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*.

scientific article

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

scientific article

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

scientific article published on 16 June 2012

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

Yersinia pestis genome sequencing identifies patterns of global phylogenetic diversity

scientific article published in December 2010

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