De novo mutations in schizophrenia implicate synaptic networks | Nature | 2014 | 1.2K |
Traumatic brain injury: integrated approaches to improve prevention, clinical care, and research | Lancet Neurology, The | 2017 | 851 |
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Cell | 2020 | 578 |
Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis | Cell | 2019 | 359 |
Distribution and medical impact of loss-of-function variants in the Finnish founder population | PLoS Genetics | 2014 | 243 |
The impact of low-frequency and rare variants on lipid levels | Nature Genetics | 2015 | 229 |
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy | Nature Genetics | 2015 | 177 |
Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors | American Journal of Human Genetics | 2017 | 133 |
A central role for GRB10 in regulation of islet function in man | PLoS Genetics | 2014 | 124 |
Genetic background of extreme violent behavior | Molecular Psychiatry | 2015 | 121 |
Ischemic stroke is associated with the ABO locus: the EuroCLOT study | Annals of Neurology | 2013 | 105 |
Genetic variants linked to education predict longevity | Proceedings of the National Academy of Sciences of the United States of America | 2016 | 90 |
Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA | PLoS ONE | 2012 | 89 |
CHD2 variants are a risk factor for photosensitivity in epilepsy | Brain | 2015 | 81 |
A novel common variant in DCST2 is associated with length in early life and height in adulthood | Human Molecular Genetics | 2015 | 77 |
A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium HumanMethylation450 BeadChip(®) for methylome profiling | PLoS ONE | 2012 | 72 |
Common variant at 16p11.2 conferring risk of psychosis | Molecular Psychiatry | 2014 | 67 |
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy | EBioMedicine | 2015 | 61 |
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum | American Journal of Human Genetics | 2018 | 59 |
Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis | European Journal of Cancer | 2017 | 56 |
Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type-specific hypomethylated regions | Blood | 2013 | 56 |
Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer | International Journal of Cancer | 2017 | 50 |
Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland | American Journal of Human Genetics | 2019 | 50 |
Fine-Scale Genetic Structure in Finland | G3: Genes, Genomes, Genetics | 2017 | 50 |
Pitfalls in genetic testing: the story of missed SCN1A mutations | Molecular Genetics & Genomic Medicine | 2016 | 50 |