Lista de obras -

A complicated case of bowel obstruction with sepsis and methamphetamine toxicity in a child with pica

scientific article published on 23 August 2019

A framework for the interpretation of de novo mutation in human disease

artículo científico publicado en 2014

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

artículo científico publicado en 2016

ASD and ADHD have a similar burden of rare protein-truncating variants

Analysis of protein-coding genetic variation in 60,706 humans

artículo científico publicado en 2016

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

artículo científico publicado en 2013

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

artículo científico publicado en 2019

Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients with Crohn's Disease

artículo científico publicado en 2018

Common risk variants identified in autism spectrum disorder

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

artículo científico publicado en 2011

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis

artículo científico publicado en 2013

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

scholarly article published 3 June 2017

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

artículo científico publicado en 2018

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

artículo científico publicado en 2016

Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scholarly article published in Nature Genetics

Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease

scientific article published on 01 February 2019

Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.

artículo científico publicado en 2018

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

artículo científico publicado en 2010

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.

artículo científico publicado en 2016

Identification of common genetic risk variants for autism spectrum disorder

artículo científico publicado en 2019

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

artículo científico publicado en 2018

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

artículo científico publicado en 2013

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Patterns and rates of exonic de novo mutations in autism spectrum disorders

artículo científico publicado en 2012

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

artículo científico publicado en 2013

Lista de obras de

A complicated case of bowel obstruction with sepsis and methamphetamine toxicity in a child with pica

A framework for the interpretation of de novo mutation in human disease

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

ASD and ADHD have a similar burden of rare protein-truncating variants

Analysis of protein-coding genetic variation in 60,706 humans

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients with Crohn's Disease

Common risk variants identified in autism spectrum disorder

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci

Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease

Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.

Identification of common genetic risk variants for autism spectrum disorder

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders