User profiles for H. Hakonarson
Hakon HakonarsonDirector, Center for Applied Genomics, CHOP, UPENN Verified email at email.chop.edu Cited by 150588 |
Analysis of shared heritability in common disorders of the brain
…, E Rogaeva, P St George-Hyslop, H Hakonarson… - Science, 2018 - science.org
INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …
Analysing biological pathways in genome-wide association studies
… For example, previous GWA studies demonstrated that complement factor H is a strong
risk factor for age-related macular degeneration (AMD) 30,31,32 . However, in a pathway-based …
risk factor for age-related macular degeneration (AMD) 30,31,32 . However, in a pathway-based …
[HTML][HTML] The electronic medical records and genomics (eMERGE) network: past, present, and future
…, JC Denny, CJ Gallego, JL Haines, H Hakonarson… - Genetics in …, 2013 - nature.com
… However, sites that are farther along the translation spectrum plan to include measurement
of some health outcomes, including documented adverse drug reaction within 24 h of …
of some health outcomes, including documented adverse drug reaction within 24 h of …
Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
…, MS Silverberg, V Annese, H Hakonarson… - Nature, 2012 - nature.com
Crohn’s disease and ulcerative colitis, the two common forms of inflammatory bowel disease
(IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other …
(IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other …
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
…, JR Gilbert, M Mayhaus, L Lannfelt, H Hakonarson… - Nature …, 2013 - nature.com
Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous
studies; however, a large portion of the genetic risk for this disease remains unexplained. …
studies; however, a large portion of the genetic risk for this disease remains unexplained. …
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
…, S Schreiber, JH Cho, V Annese, H Hakonarson… - Nature …, 2010 - nature.com
We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS)
comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the …
comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the …
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
…, RE Gur, RC Gur, B Gutiérrez, E Hahn, H Hakonarson… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80% 1 , much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease
…, AM Goate, D Blacker, DW Tsuang, H Hakonarson… - Nature …, 2011 - nature.com
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association
study of late-onset Alzheimer disease using a three-stage design consisting of a discovery …
study of late-onset Alzheimer disease using a three-stage design consisting of a discovery …
Functional impact of global rare copy number variation in autism spectrum disorders
…, A Green, J Green, SJ Guter, H Hakonarson… - Nature, 2010 - nature.com
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments
in reciprocal social interaction and communication, and the presence of restricted and …
in reciprocal social interaction and communication, and the presence of restricted and …
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
High-throughput sequencing platforms are generating massive amounts of genetic variation
data for diverse genomes, but it remains a challenge to pinpoint a small subset of …
data for diverse genomes, but it remains a challenge to pinpoint a small subset of …