List of works - Michael Krawczak

'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care

scientific article (publication date: 2 August 2012)

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 common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss

scientific article

A comprehensive evaluation of SNP genotype imputation

scientific article

A functional EXO1 promoter variant is associated with prolonged life expectancy in centenarians

scientific article published on 19 August 2009

A gene conversion hotspot in the human growth hormone (GH1) gene promoter

scientific article published in February 2009

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

scientific article published on 15 July 2007

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

article

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

scientific article published on 12 July 2013

A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation

scientific article

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

scientific article (publication date: September 2014)

A legal framework for biobanking: the German experience

article

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

scientific article (publication date: 2002)

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

scientific article

A role for overdominant selection in phenylketonuria? Evidence from molecular data

scientific article

Adjustment for smoking does not alter the FOXO3A association with longevity

scientific article

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

scientific article published in July 2009

Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease

scientific article

Allowing for population stratification in case-only studies of gene-environment interaction, using genomic control

scientific article published on 22 August 2015

An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

scientific article

An illicit love affair during the Third Reich: who is my grandfather?

scientific article published in March 2008

Asian online Y-STR Haplotype Reference Database

scientific article

Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease

scientific article

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies

scientific article published on 25 April 2013

Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study

scientific article

Association of TLR7 Variants with AIDS-Like Disease and AIDS Vaccine Efficacy in Rhesus Macaques ⬇️

scientific article published on October 13, 2011

Association of inflammatory bowel disease with indicators for childhood antigen and infection exposure

scientific article published on 10 April 2003

Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis

scientific article

Biobanking and international interoperability: samples ⬇️

scientific article published on July 15, 2011

Biobanks in the Era of Digital Medicine

scientific article

Broad consent for health care-embedded biobanking: understanding and reasons to donate in a large patient sample

scientific article published on 22 June 2017

Causality of incest: a reply to ten Kate

scientific article published on 20 September 2013

Chromosomal evolution of the PKD1 gene family in primates

scientific article

Chromosomal evolution of the PKD1 gene family in primates

article

Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome

scientific article published on 27 March 2012

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

scientific article (publication date: May 2011)

Copy number variation in patients with cervical artery dissection ⬇️

scientific article published on May 23, 2012

Core database

scientific article published in Nature

Correcting for multiple testing in genetic association studies: the legend lives on

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

scientific article

Correlation between genetic and geographic structure in Europe

scientific article

DNA methylation analysis in nonalcoholic fatty liver disease suggests distinct disease-specific and remodeling signatures after bariatric surgery

scientific article published on August 2013

Decision-making in familial database searching: KI alone or not alone?

scientific article published on 29 June 2012

Diagnosing fatty liver disease: a comparative evaluation of metabolic markers, phenotypes, genotypes and established biomarkers

scientific article

Distinct metabolic network states manifest in the gene expression profiles of pediatric inflammatory bowel disease patients and controls

scientific article published on 02 September 2016

Distinguishing genetically between the germlines of male monozygotic twins

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

scientific article published on March 2007

Efficacy assessment of SNP sets for genome-wide disease association studies

scientific article

Empirical evaluation reveals best fit of a logistic mutation model for human Y-chromosomal microsatellites

scientific article published on 3 October 2011

Enabling Pedigree Visualization and Analysis in tranSMART

scholarly article by Robert Lodahl et al published 2018 in Studies in Health Technology and Informatics

Entropy-based SNP selection for genetic association studies ⬇️

scientific article published on September 18, 2003

Epigenomic map of human liver reveals principles of zonated morphogenic and metabolic control

scientific article published in Nature Communications

Erratum to: How obedience of marriage rules may counteract genetic drift ⬇️

scientific article published on October 1, 2012

Erratum: Corrigendum: Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis

scholarly article published in Nature Genetics

Estimating trace-suspect match probabilities for singleton Y-STR haplotypes using coalescent theory

scientific article published on 25 December 2012

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis

scientific article published on 20 February 2014

Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p.

scientific article

Family-Based Benchmarking of Copy Number Variation Detection Software

scientific article published on 21 July 2015

Forensic interpretation of Y-chromosomal DNA mixtures

scientific article published in September 2005

GENOMIZER: an integrated analysis system for genome-wide association data

scientific article

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

scientific article published on June 2010

Genetic Diversity in the German Population

article

Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice

scientific article published on 12 May 2017

Genetic Imbalance in Patients with Cervical Artery Dissection

scientific article

Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus

scientific article published on 25 January 2013

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

scientific article

Genetic influence on reproductive behavior in female rhesus macaques

scientific article

Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B

scientific article published on 16 May 2012

Genetic mapping of 15 human X chromosomal forensic short tandem repeat (STR) loci by means of multi-core parallelization

scientific article published on 25 July 2016

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

scientific article

Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of research

scientific article published on June 2015

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

scientific article

Genetic variants of the copy number polymorphic beta-defensin locus are associated with sporadic prostate cancer

scientific article

Genetics of Crohn disease, an archetypal inflammatory barrier disease

scientific article

Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.

scientific article published on 14 October 2013

Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster

scientific article

Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.

scientific article

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients

scientific article published on 23 August 2017

Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility.

scientific article

Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).

scientific article

Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis

scientific article

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

scientific article

Genome-wide investigation of gene-environment interactions in colorectal cancer

scientific article published on 2 November 2012

Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting

scientific article

Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans

scientific article published on 12 May 2010

Genotype-phenotype correlations in X-linked myotubular myopathy

scientific article published in December 2002

GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files

scientific article

Gross Rearrangement Breakpoint Database (GRaBD).

scientific article published on March 2004

Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population

scientific article

Heritability of chronic venous disease

scientific article

Higher fetuin-A level is associated with coexistence of elevated alanine aminotransferase and the metabolic syndrome in the general population

scientific article

How obedience of marriage rules may counteract genetic drift ⬇️

scientific article published on February 21, 2010

How to distinguish genetically between an alleged father and his monozygotic twin: A thought experiment

article by Michael Krawczak et al published September 2012 in Forensic Science International: Genetics

Human Gene Mutation Database (HGMD): 2003 update

scientific article published in June 2003

Human Gene Mutation Database?A biomedical information and research resource

article

Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region

scientific article published in April 2003

IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants

scientific article published on February 2017

Increased Tryptophan Metabolism Is Associated With Activity of Inflammatory Bowel Diseases

scientific article

Increased heritability of gallstone disease in early onset cases

Insights into early pig domestication provided by ancient DNA analysis

scientific article published on 16 March 2017

Interdisciplinary approach towards a systems medicine toolbox using the example of inflammatory diseases

scientific article

Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer

scientific article

Investigation of the Lith6 candidate genes APOBEC1 and PPARG in human gallstone disease

scientific article published in September 2007

Investigation of the colorectal cancer susceptibility region on chromosome 8q24.21 in a large German case-control sample

article

Is the NIH policy for sharing GWAS data running the risk of being counterproductive?

scientific article

Kinship testing with X-chromosomal markers: mathematical and statistical issues

scientific article published on 27 February 2007

Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project

scientific article

Likelihood ratio and posterior odds in forensic genetics: Two sides of the same coin

scientific article published on 6 March 2017

Linkage analysis identifies novel genetic modifiers of microbiome traits in families with inflammatory bowel disease

scientific article published in 2022

Loci From a Genome-Wide Analysis of Bilirubin Levels Are Associated With Gallstone Risk and Composition

article

Low-Frequency Blood Group Antigens in Switzerland

article

MHC class I alleles influence set-point viral load and survival time in simian immunodeficiency virus-infected rhesus monkeys

scientific article published in September 2002

Male reproductive timing in Rhesus macaques is influenced by the 5HTTLPR promoter polymorphism of the serotonin transporter gene

scientific article published on 5 January 2005

Match probabilities for Y-chromosomal profiles: A paradigm shift

scientific article published on 30 August 2018

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

article

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

scientific article published in September 2005

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

scientific article published on 01 February 2019

Molecular genetic epidemiology of human diseases: from patterns to predictions

scientific article

Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.

scientific article

No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans

scientific article

No shortcut solution to the problem of Y-STR match probability calculation

scientific article published on 24 October 2014

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

article

On the length distribution of external branches in coalescence trees: genetic diversity within species

scientific article published on 15 June 2007

On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants

scientific article published on 24 January 2008

Patterns of linkage disequilibrium in the MHC region on human chromosome 6p

Phenotypes of organ involvement in sarcoidosis

scientific article published on 25 January 2018

Pipeline for large-scale microdroplet bisulfite PCR-based sequencing allows the tracking of hepitype evolution in tumors

scientific article

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

scientific article published on April 2008

PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships

scientific article

Predictors of gallstone composition in 1025 symptomatic gallstones from Northern Germany

scientific article

Proposed guidelines for papers describing DNA polymorphism-disease associations

scientific article published on 13 February 2002

Prospective evaluation of a patented DNA test for canine hip dysplasia (CHD).

scientific article published on 3 August 2017

Psychomotor developmental delay and epilepsy in an offspring of father-daughter incest: quantification of the causality probability

scientific article published on 13 March 2009

Recurrence of gallstones after cholecystectomy is associated with ABCG5/8 genotype

scientific article

Relating two deep-rooted pedigrees from Central Germany by high-resolution Y-STR haplotyping.

scientific article

Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis

scientific article published on 27 April 2008

Rhesus macaque IFITM3 gene polymorphisms and SIV infection.

scientific article

SFRS10—A Splicing Factor Gene Reduced in Human Obesity?

article

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

scientific article

Sarcoidosis is associated with a truncating splice site mutation in BTNL2.

scientific article

Schizophrenia and functional polymorphisms in the MAOA and COMT genes: no evidence for association or epistasis.

scientific article published in July 2002

Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

scientific article published on 5 October 2008

Signature of recent historical events in the European Y-chromosomal STR haplotype distribution

scientific article published on 20 January 2005

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

article

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

scientific article published in February 2007

Single base-pair substitutions in pathology and evolution: Two sides to the same coin

scholarly article by Michael Krawczak et al published 1996 in Human Mutation

Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection

article

Statistical inference of allelic imbalance from transcriptome data

scientific article

Systematic association mapping identifies NELL1 as a novel IBD disease gene

scientific article published in 2007

Systematic evaluation of the effect of common SNPs on pre-mRNA splicing

scientific article published in April 2009

THE EVOLUTION OF THE VERTEBRATE β-GLOBIN GENE PROMOTER

article

Technology-specific error signatures in the 1000 Genomes Project data

scientific article

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

scientific article

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

scientific article published on 28 March 2012

The evolution of the vertebrate beta-globin gene promoter

scientific article published in February 2002

The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population

scientific article published on 19 August 2015

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

scientific article published on 9 October 2002

Transcriptomic alterations during ageing reflect the shift from cancer to degenerative diseases in the elderly

scientific article published on 30 January 2018

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

scientific article

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends

scientific article published in September 2003

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

scientific article

Vector order determines protection against pathogenic simian immunodeficiency virus infection in a triple component vaccine by balancing CD4+ and CD8+ T-cell responses

scientific article published on 13 September 2017

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

scientific article published on 03 July 2013

X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women

scientific article published on August 2009

Y-chromosomal STR haplotype analysis reveals surname-associated strata in the East-German population

scientific article

Y-chromosomal analysis identifies the skeletal remains of Swiss national hero Jörg Jenatsch (1596-1639).

scientific article published on 27 August 2013

List of works by Michael Krawczak

'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care

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

A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss

A comprehensive evaluation of SNP genotype imputation

A functional EXO1 promoter variant is associated with prolonged life expectancy in centenarians

A gene conversion hotspot in the human growth hormone (GH1) gene promoter

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

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

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

A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

A legal framework for biobanking: the German experience

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

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

A role for overdominant selection in phenylketonuria? Evidence from molecular data

Adjustment for smoking does not alter the FOXO3A association with longevity

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

Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease

Allowing for population stratification in case-only studies of gene-environment interaction, using genomic control

An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

An illicit love affair during the Third Reich: who is my grandfather?

Asian online Y-STR Haplotype Reference Database

Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies

Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study

Association of TLR7 Variants with AIDS-Like Disease and AIDS Vaccine Efficacy in Rhesus Macaques ⬇️

Association of inflammatory bowel disease with indicators for childhood antigen and infection exposure

Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis

Biobanking and international interoperability: samples ⬇️

Biobanks in the Era of Digital Medicine

Broad consent for health care-embedded biobanking: understanding and reasons to donate in a large patient sample

Causality of incest: a reply to ten Kate

Chromosomal evolution of the PKD1 gene family in primates

Chromosomal evolution of the PKD1 gene family in primates

Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

Copy number variation in patients with cervical artery dissection ⬇️

Core database

Correcting for multiple testing in genetic association studies: the legend lives on

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

Correlation between genetic and geographic structure in Europe

DNA methylation analysis in nonalcoholic fatty liver disease suggests distinct disease-specific and remodeling signatures after bariatric surgery

Decision-making in familial database searching: KI alone or not alone?

Diagnosing fatty liver disease: a comparative evaluation of metabolic markers, phenotypes, genotypes and established biomarkers

Distinct metabolic network states manifest in the gene expression profiles of pediatric inflammatory bowel disease patients and controls

Distinguishing genetically between the germlines of male monozygotic twins

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Efficacy assessment of SNP sets for genome-wide disease association studies

Empirical evaluation reveals best fit of a logistic mutation model for human Y-chromosomal microsatellites

Enabling Pedigree Visualization and Analysis in tranSMART

Entropy-based SNP selection for genetic association studies ⬇️

Epigenomic map of human liver reveals principles of zonated morphogenic and metabolic control

Erratum to: How obedience of marriage rules may counteract genetic drift ⬇️

Erratum: Corrigendum: Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis

Estimating trace-suspect match probabilities for singleton Y-STR haplotypes using coalescent theory

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis

Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p.

Family-Based Benchmarking of Copy Number Variation Detection Software

Forensic interpretation of Y-chromosomal DNA mixtures

GENOMIZER: an integrated analysis system for genome-wide association data

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

Genetic Diversity in the German Population

Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice

Genetic Imbalance in Patients with Cervical Artery Dissection

Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus

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

Genetic influence on reproductive behavior in female rhesus macaques

Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B

Genetic mapping of 15 human X chromosomal forensic short tandem repeat (STR) loci by means of multi-core parallelization

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

Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of research

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

Genetic variants of the copy number polymorphic beta-defensin locus are associated with sporadic prostate cancer

Genetics of Crohn disease, an archetypal inflammatory barrier disease

Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.

Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster

Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients

Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility.