Author details

Full Name

Christine Stevens

Affiliation

ORCID

Career Start Year

2007

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37425834	CHARR efficiently estimates contamination from DNA sequencing data.	bioRxiv	2023
37595579	Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.	Am J Hum Genet	2023
35982160	Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.	Nat Genet	2022
35396579	Rare coding variants in ten genes confer substantial risk for schizophrenia.	Nature	2022
36038634	Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.	Nat Genet	2022
35763490	Genotype imputation and polygenic score estimation in northwestern Russian population.	PLoS One	2022
35677697	Case Report: Supernormal Vascular Aging in Leningrad Siege Survivors.	Front Cardiovasc Med	2022
32651235	Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD.	Gut	2021
33590606	Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis.	Liver Int	2021
33536627	Author Correction: A structural variation reference for medical and population genetics.	Nature	2021
33600772	Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease.	Am J Hum Genet	2021
33098885	Prevalence and Effect of Genetic Risk of Thromboembolic Disease in Inflammatory Bowel Disease.	Gastroenterology	2021
31145742	Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.	PLoS Genet	2019
30478444	Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.	Nat Genet	2019
30124884	Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.	Inflamm Bowel Dis	2019
29593342	Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.	Genes Immun	2019
29454792	Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.	Gastroenterology	2018
30421579	PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.	Am J Med Genet B Neuropsychiatr Genet	2018
29378630	Host genetic variation and its microbiome interactions within the Human Microbiome Project.	Genome Med	2018
29795570	Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.	PLoS Genet	2018
27535533	Analysis of protein-coding genetic variation in 60,706 humans.	Nature	2016
27199131	Androgen-sensitive hypertension associated with soluble guanylate cyclase-Î±1 deficiency is mediated by 20-HETE.	Am J Physiol Heart Circ Physiol	2016
27089011	High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.	PLoS One	2016
27503255	A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.	Nat Commun	2016
27830782	Evolution of Osteocrin as an activity-regulated factor in the primate brain.	Nature	2016
27619887	Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.	Nat Commun	2016
25086666	A framework for the interpretation of de novo mutation in human disease.	Nat Genet	2014
25363760	Synaptic, transcriptional and chromatin genes disrupted in autism.	Nature	2014
24461721	SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease.	J Crohns Colitis	2014
23352160	Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.	Neuron	2013
24068945	Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.	PLoS Genet	2013
24094742	Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.	Am J Hum Genet	2013
23396133	Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.	Nat Genet	2013
23593035	Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.	PLoS Genet	2013
23352163	Using whole-exome sequencing to identify inherited causes of autism.	Neuron	2013
22495311	Patterns and rates of exonic de novo mutations in autism spectrum disorders.	Nature	2012
22511880	Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.	PLoS Genet	2012
22843986	zCall: a rare variant caller for array-based genotyping: genetics and population analysis.	Bioinformatics	2012
22958903	Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.	Am J Hum Genet	2012
21983784	Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.	Nat Genet	2011
20228799	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Nat Genet	2010
20876472	A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2.	Neurology	2010
20921534	LRRK2 is involved in the IFN-gamma response and host response to pathogens.	J Immunol	2010
19322901	Established genetic risk factors do not distinguish early and later onset Crohn's disease.	Inflamm Bowel Dis	2009
18650832	MAST3: a novel IBD risk factor that modulates TLR4 signaling.	Genes Immun	2008
18437207	Defining the role of the MHC in autoimmunity: a review and pooled analysis.	PLoS Genet	2008
17997607	Identification of two independent risk factors for lupus within the MHC in United Kingdom families.	PLoS Genet	2007