List of works - Ingo Ruczinski

Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations

scientific article

Multiple loci associated with indices of renal function and chronic kidney disease

scientific journal article

Sensitive detection of chromosomal segments of distinct ancestry in admixed populations

scientific article

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

scientific article published in June 2010

Detectable clonal mosaicism from birth to old age and its relationship to cancer

scientific article

Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene

scientific journal article

Variants of DENND1B associated with asthma in children

scientific article

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

scientific journal article

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci

scientific article

Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart

scientific article

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

scientific article published on 6 February 2017

Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium

scientific article

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci

scientific article

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

scientific article published on 24 February 2017

Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

scientific article published in September 2011

Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection

scientific article

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

scientific article

The impact of FADS genetic variants on ω6 polyunsaturated fatty acid metabolism in African Americans

scientific article

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

scientific article

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts

scientific article

Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function

scientific article

Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts

scientific article published on 14 March 2012

Alcohol dehydrogenase genetic polymorphisms, low-to-moderate alcohol consumption, and risk of breast cancer

journal article published in 2007

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking

scientific article

Rapid Testing of SNPs and Gene–Environment Interactions in Case–Parent Trio Data Based on Exact Analytic Parameter Estimation

scientific article published on December 7, 2011

On the precision of experimentally determined protein folding rates and phi-values

scientific article

Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.

scientific article

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

scientific article published on 6 March 2019

Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans

scientific article published on 16 April 2012

Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

scientific article

A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.

scientific article

Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate

scientific article published on 6 February 2014

Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease

scientific article

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives

scientific article

A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk

scientific article published on February 14, 2014

Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole‐Exome Sequencing

scientific article published on January 1, 2016

X‐linked markers in the Duchenne muscular dystrophy gene associated with oral clefts

scientific article published on April 1, 2013

Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate

scientific article published on 12 January 2012

Evidence for SNP-SNP interaction identified through targeted sequencing of cleft case-parent trios.

scientific article published on 26 December 2016

Whole exome association of rare deletions in multiplex oral cleft families

scientific article

A genome‐wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts

scientific article published on March 16, 2015

Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants

article

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants

scientific article published on 14 October 2020

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

scientific article

Inferring Disease Risk Genes from Sequencing Data in Multiplex Pedigrees Through Sharing of Rare Variants

article

Detection of de novo copy number deletions from targeted sequencing of trios

scientific article published on 01 February 2019

Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios

scientific article published on 15 June 2020

List of works by Ingo Ruczinski

Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations

Multiple loci associated with indices of renal function and chronic kidney disease

Sensitive detection of chromosomal segments of distinct ancestry in admixed populations

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

Detectable clonal mosaicism from birth to old age and its relationship to cancer

Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene

Variants of DENND1B associated with asthma in children

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci

Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

The impact of FADS genetic variants on ω6 polyunsaturated fatty acid metabolism in African Americans

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts

Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function

Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts

Alcohol dehydrogenase genetic polymorphisms, low-to-moderate alcohol consumption, and risk of breast cancer

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking

Rapid Testing of SNPs and Gene–Environment Interactions in Case–Parent Trio Data Based on Exact Analytic Parameter Estimation

On the precision of experimentally determined protein folding rates and phi-values

Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans

Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.

Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate

Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives

A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk

Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole‐Exome Sequencing

X‐linked markers in the Duchenne muscular dystrophy gene associated with oral clefts

Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate

Evidence for SNP-SNP interaction identified through targeted sequencing of cleft case-parent trios.

Whole exome association of rare deletions in multiplex oral cleft families

A genome‐wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts

Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Inferring Disease Risk Genes from Sequencing Data in Multiplex Pedigrees Through Sharing of Rare Variants

Detection of de novo copy number deletions from targeted sequencing of trios

Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios