Lista de obras -

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Chromosome 6p22 locus associated with clinically aggressive neuroblastoma

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Copy number variation at 1q21.1 associated with neuroblastoma

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

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

artículo científico publicado en 2009

Genome-wide association identifies diverse causes of common variable immunodeficiency

artículo científico publicado en 2011

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

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

artículo científico publicado en 2010

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

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

artículo científico publicado en 2016

Variants of DENND1B associated with asthma in children

artículo científico publicado en 2009

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

artículo científico publicado en 2013

Whole-genome sequencing in an autism multiplex family

artículo científico publicado en 2013

Lista de obras de

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

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

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

Chromosome 6p22 locus associated with clinically aggressive neuroblastoma

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

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.

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

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

Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies

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

Copy number variation at 1q21.1 associated with neuroblastoma

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

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.

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

Genome-wide association identifies diverse causes of common variable immunodeficiency

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

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

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

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

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

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

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

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

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

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

Variants of DENND1B associated with asthma in children

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Whole-genome sequencing in an autism multiplex family