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List of works by Joseph Glessner

17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry

article

A "candidate-interactome" aggregate analysis of genome-wide association data in multiple sclerosis

scientific article

A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.

scientific article published on 24 May 2013

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

scientific article

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

scientific article

A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale

scientific article published on 30 August 2012

A genome-wide association study on obesity and obesity-related traits

scientific article published on 28 April 2011

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci

scientific journal article

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A genome-wide study reveals copy number variants exclusive to childhood obesity cases

scientific article

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

scientific article

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

scientific article published on 14 October 2011

A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study

scientific article

ADHD & Pharmacotherapy: Past, Present and Future: A Review of the Changing Landscape of Drug Therapy for Attention Deficit Hyperactivity Disorder

scientific article

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

scientific article published on 10 September 2008

An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities

scientific article published in 2022

An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder

scientific article published on 7 March 2016

Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum.

scientific article

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.

scientific article published on 26 July 2014

Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients

scientific article published on 08 January 2022

Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP.

scientific article

Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population

scientific article

Association of novel rare coding variants with juvenile idiopathic arthritis

scientific article published on 06 January 2021

Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.

scientific article

Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease

scientific article

Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis

scientific article published on 01 July 2008

Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease

scientific article (publication date: August 2007)

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

scientific article

BMD-associated variation at the Osterix locus is correlated with childhood obesity in females

scientific article published on 06 January 2011

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

scientific article

Burden of copy number variation in common variable immunodeficiency

scientific article published on 01 July 2014

CANOES: detecting rare copy number variants from whole exome sequencing data

scientific article

Chromosome 6p22 locus associated with clinically aggressive neuroblastoma

scientific article

Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission

scientific article

Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium

scientific article

Common genetic variants on 5p14.1 associate with autism spectrum disorders

scientific article

Common variants at 5q22 associate with pediatric eosinophilic esophagitis

scientific journal article

Common variants at five new loci associated with early-onset inflammatory bowel disease

scientific article

Common variants in HSPB7 and FRMD4B associated with advanced heart failure

scientific article

Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.

scientific article published on 18 September 2017

Common variants in polygenic schizophrenia.

scientific article published on 29 September 2009

Common variation contributes to the genetic architecture of social communication traits.

scientific article published on 18 September 2013

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease

scientific article

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

scientific article

Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects

scientific article

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.

scientific article published on 17 July 2015

Copy number variation at 1q21.1 associated with neuroblastoma

scientific article

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

scientific article

Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study

scientific article published on 21 November 2012

Copy number variations in alternative splicing gene networks impact lifespan

scientific article

Correction: A Genome-Wide Association Study on Obesity and Obesity-Related Traits.

scientific article

Corrigendum: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder

scientific article published on 24 May 2016

De novo mutations in histone-modifying genes in congenital heart disease.

scientific article

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

scientific article

Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease

scientific article

Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder

scientific article

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

article by Matthew B. Lanktree et al published June 2012 in American Journal of Human Genetics

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

scientific article published on 18 January 2016

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

scientific article

Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.

scientific article

Examination of genetic variants influencing lipid traits in pediatric populations.

scientific article

Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.

scientific article published on 10 July 2009

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

scientific article published on July 2011

Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes

scientific article

From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes.

scientific article

Functional impact of global rare copy number variation in autism spectrum disorders

scientific article published on 15 July 2010

GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus

scientific article (publication date: 29 October 2013)

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders

scientific article published on 27 April 2011

Genetic correlations between COVID-19 and a variety of traits and diseases

scientific article published in 2021

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

scientific article

Genetic variants in major histocompatibility complex-linked genes associate with pediatric liver transplant rejection.

scientific article

Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease

scientific article

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

article

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

scientific article

Genome-wide association identifies diverse causes of common variable immunodeficiency

scientific article published on 17 April 2011

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations

scientific article

Genome-wide association study of maternal and inherited loci for conotruncal heart defects

scientific article

Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.

scientific article

Genome-wide association: from confounded to confident.

scientific article published on 20 January 2011

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

scientific article

Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity.

scientific article published on 2 February 2016

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.

scientific article published on 13 January 2009

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.

scientific article published in March 2009

High rate of disease-related copy number variations in childhood onset schizophrenia.

scientific article published on 21 May 2013

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

scientific article published on 10 July 2009

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

scientific article

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

scientific article

Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry

scientific article published on 5 March 2009

Lack of relationship between mitochondrial heteroplasmy or variation and childhood obesity.

scientific article published on 18 October 2011

Large copy-number variations are enriched in cases with moderate to extreme obesity.

scientific article published on 9 July 2010

Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci.

scientific article

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

scientific article

Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease

scientific article

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

scientific article

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

scientific article

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

scientific article

Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa

scientific article published on 29 January 2019

Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans

scientific article published on 02 November 2020

Modeling genetic inheritance of copy number variations.

scientific article published on 02 October 2008

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

scientific article published on 23 March 2016

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

scientific article published on 2 January 2015

ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry.

scientific article

ParseCNV integrative copy number variation association software with quality tracking.

scientific article published on 04 January 2013

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

scientific article (publication date: November 2007)

Phasing of many thousands of genotyped samples

scientific article

Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci.

scientific article

Psychiatric gene discoveries shape evidence on ADHD's biology

scientific article published on 17 November 2015

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

scientific article published on 14 January 2020

Rare genomic deletions and duplications and their role in neurodevelopmental disorders.

scientific article published on January 2012

Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders

scientific article published in 2023

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

scientific article

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.

scientific article

Role of BMI‐Associated Loci Identified in GWAS Meta‐Analyses in the Context of Common Childhood Obesity in European Americans ⬇️

scientific article published on July 21, 2011

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

scientific article published on March 2009

Strong synaptic transmission impact by copy number variations in schizophrenia

scientific article

The Role of ARF6 in Biliary Atresia.

scientific article published on 17 September 2015

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

scientific article

The landscape of recombination in African Americans

scientific article

The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.

scientific article published on January 2013

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

scientific article

The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI

scientific article

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

scientific article

Variants of DENND1B associated with asthma in children

scientific article

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