List of works - Rosetta M. Chiavacci

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

scientific journal article

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

scientific article

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

scientific article

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

scientific article published on 01 July 2019

Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21

scientific article

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

scientific article

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

Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesity

scientific article

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

scientific article

Common variants at 12q15 and 12q24 are associated with infant head circumference

scientific article published on 15 April 2012

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

Comorbidity of physical and mental disorders in the neurodevelopmental genomics cohort study

scientific article

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

scientific article published on 17 July 2015

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

scientific article published on 16 March 2016

Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

scientific article published on 21 August 2017

Erratum: Common variants at 12q15 and 12q24 are associated with infant head circumference

scholarly article published in Nature Genetics

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

Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling.

scientific article published on 16 January 2018

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

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

Genome-wide association identifies diverse causes of common variable immunodeficiency

scientific article published on 17 April 2011

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

scientific article

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

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

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

scientific article

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

scientific article

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

scientific article

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

scholarly article by Dong Li published in June 2018

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

scientific article published on 14 January 2020

Strong synaptic transmission impact by copy number variations in schizophrenia

scientific article

The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth

scientific article

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative

scientific article

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

scientific article published on January 2013

The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort

scientific article

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

List of works by Rosetta M. Chiavacci

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

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

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

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

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

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

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21

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

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

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

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

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

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

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

Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesity

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

Common variants at 12q15 and 12q24 are associated with infant head circumference

Common variants at 5q22 associate with pediatric eosinophilic esophagitis

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

Comorbidity of physical and mental disorders in the neurodevelopmental genomics cohort study

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

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

Erratum: Common variants at 12q15 and 12q24 are associated with infant head circumference

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

Examination of genetic variants influencing lipid traits in pediatric populations.

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

Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling.

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

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

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

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

Genome-wide association identifies diverse causes of common variable immunodeficiency

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

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

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

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

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

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

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

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

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

Strong synaptic transmission impact by copy number variations in schizophrenia

The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative

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

The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort

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

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

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

Variants of DENND1B associated with asthma in children