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Authors whose works are in public domain in at least one jurisdiction

List of works by Christine Stevens

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

scientific article (publication date: 3 August 2014)

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

scientific article published on 09 August 2016

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

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

scientific article (publication date: 17 August 2016)

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

scientific article

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

scientific article published on 25 November 2019

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

scientific article published on 15 February 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

scientific article

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

scientific article

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

scientific article published on 26 November 2018

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

scientific article published on 13 September 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.

scientific article published on 28 March 2018

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scientific article

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

scientific article

Identification of common genetic risk variants for autism spectrum disorder

scientific article published on 25 February 2019

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

scientific article

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

preprint published 25 September 2016

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

scientific article

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

scientific article

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

scientific article published on January 2013

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