European Journal of Human Genetics : Ejhg
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Publication Venue For
- A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.. 29:271-279. 2021
- Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.. 28:76-87. 2020
- The Marquesans at the fringes of the Austronesian expansion.. 27:801-810. 2019
- Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis.. 25:1261-1267. 2017
- Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.. 25:894-899. 2017
- Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.. 25:461-471. 2017
- Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations.. 24:592-599. 2016
- Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.. 23:854-862. 2015
- Phenome-wide association studies (PheWASs) for functional variants.. 23:523-529. 2015
- Kernel canonical correlation analysis for assessing gene-gene interactions and application to ovarian cancer.. 22:126-131. 2014
- Genomic correlates of variability in immune response to an oral cholera vaccine.. 21:1000-1006. 2013
- Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms.. 20:1051-1057. 2012
- A statistical method for region-based meta-analysis of genome-wide association studies in genetically diverse populations.. 20:469-475. 2012
- Natural positive selection and north-south genetic diversity in East Asia.. 20:102-110. 2012
- Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.. 19:1082-1089. 2011
- Pathway-based identification of SNPs predictive of survival.. 19:704-709. 2011
- Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.. 19:18 p preceding 494. 2011
- Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.. 19. 2011
- Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.. 19:445-451. 2011
- Common genetic variation and performance on standardized cognitive tests.. 18:815-820. 2010
- Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.. 17:946-957. 2009