Lista de obras -

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

4th Pediatric Allergy and Asthma Meeting (PAAM)

artículo científico publicado en 2016

A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

scientific article published on 01 July 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2022

Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization

artículo científico publicado en 2020

Association of novel rare coding variants with juvenile idiopathic arthritis

artículo científico publicado en 2021

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Common variants at 5q22 associate with pediatric eosinophilic esophagitis

scientific journal article

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Copy number variations in alternative splicing gene networks impact lifespan

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Detecting multiple differentially methylated CpG sites and regions related to dimensional psychopathology in youths

artículo científico publicado en 2019

Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Examination of genetic variants influencing lipid traits in pediatric populations.

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).

artículo científico publicado en 2017

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

artículo científico publicado en 2008

Meta-analysis identifies seven susceptibility loci involved in the atopic march

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study

artículo científico publicado en 2020

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

scientific article published on 02 November 2020

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

artículo científico publicado en 2015

Neuroimaging of the Philadelphia neurodevelopmental cohort

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

artículo científico publicado en 2021

Strong synaptic transmission impact by copy number variations in schizophrenia

artículo científico publicado en 2010

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

artículo científico publicado en 2015

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Variants of DENND1B associated with asthma in children

artículo científico publicado en 2009

Lista de obras de

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

4th Pediatric Allergy and Asthma Meeting (PAAM)

A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations

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

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

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

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

Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization

Association of novel rare coding variants with juvenile idiopathic arthritis

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

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

Common variants at 5q22 associate with pediatric eosinophilic esophagitis

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

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

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

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

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

Copy number variations in alternative splicing gene networks impact lifespan

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

Detecting multiple differentially methylated CpG sites and regions related to dimensional psychopathology in youths

Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network

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

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

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

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

Examination of genetic variants influencing lipid traits in pediatric populations.

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

Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants

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

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

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

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

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

Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).

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

Meta-analysis identifies seven susceptibility loci involved in the atopic march

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

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

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

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

Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study

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

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

Neuroimaging of the Philadelphia neurodevelopmental cohort

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

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

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

Variants of DENND1B associated with asthma in children