Author details

Full Name

Jennifer Jolley

Affiliation

ORCID

Career Start Year

2007

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
27084890	A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.	Blood	2016
25949529	Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.	Genome Med	2015
25673413	Genetic studies of body mass index yield new insights for obesity biology.	Nature	2015
25817829	Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.	Nat Commun	2015
24879339	Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.	PLoS One	2014
25282103	Defining the role of common variation in the genomic and biological architecture of adult human height.	Nat Genet	2014
24264051	Plasma concentrations of soluble IL-2 receptor Î± (CD25) are increased in type 1 diabetes and associated with reduced C-peptide levels in young patients.	Diabetologia	2014
23754948	Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.	PLoS Genet	2013
21989056	Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene.	Hum Mol Genet	2012
22366785	Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.	Nat Genet	2012
22982992	FTO genotype is associated with phenotypic variability of body mass index.	Nature	2012
23300628	Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression.	PLoS One	2012
23222517	Seventy-five genetic loci influencing the human red blood cell.	Nature	2012
22139419	New gene functions in megakaryopoiesis and platelet formation.	Nature	2011
20360734	Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.	Nature	2010
19228925	A HaemAtlas: characterizing gene expression in differentiated human blood cells.	Blood	2009
19221038	A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function.	Blood	2009
18454148	Common variants near MC4R are associated with fat mass, weight and risk of obesity.	Nat Genet	2008
18332098	Sequencing-based genotyping and association analysis of the MICA and MICB genes in type 1 diabetes.		2008
17952073	Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.	Nat Genet	2007