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Article
Open AccessGenome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles
Migraine affects over a billion individuals worldwide but its genetic underpinning remains largely unknown. Here, we performed a genome-wide association study of 102,084 migraine cases and 771,257 controls and...
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Article
Open AccessGene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous ge...
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Article
Open AccessContribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less characterized. To elucidate the genetics of milder ID we s...
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Article
Correction: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Nat. Genet.; doi:10.1038/ng.3598; corrected online 18 July 2016 In the version of this article initially published online, the affiliations for Bertram Muller-Myhsok and Patricia Pozo-Rosich were incorrect or ...
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Article
Open AccessMigraine genetics: from genome-wide association studies to translational insights
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Article
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Aarno Palotie and colleagues present results of a large genome-wide association study of migraine. They identified significant associations at 38 distinct loci and found enrichment for genes expressed in vascu...
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Article
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Christel Depienne, Eric LeGuern and colleagues report the identification of 5 de novo missense mutations in HCN1 in individuals with early-onset epileptic encephalopathy. Functional studies confirmed the pathogen...
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Article
De novo mutations in schizophrenia implicate synaptic networks
Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de novo) mutations, in the form of large chromosomal copy number changes, occur in a small fraction of cases and disproporti...
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Article
Genome-wide meta-analysis identifies new susceptibility loci for migraine
Verneri Anttila and colleagues report meta-analysis of 29 genome-wide association studies for migraine. They identify five loci newly associated with migraine, three of which are associated with specific subty...
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Article
Reverse Engineering of Biochemical Reaction Networks Using Co-evolution with Eng-Genes
A major challenge when attempting to model biochemical reaction networks within the cell is that the dimensionality can become huge, where a large number of molecular species can be involved even in relatively...
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Article
Problem solving techniques in cognitive science
For many years, researchers have tried to discover how humans solve problems. This research has answered many questions, but still many of them remain unanswered. However, knowledge gained in this field has gr...
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Article
Open AccessModelling molecular interaction pathways using a two-stage identification algorithm
In systems biology, molecular interactions are typically modelled using white-box methods, usually based on mass action kinetics. Unfortunately, problems with dimensionality can arise when the number of molecu...
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Chapter and Conference Paper
Modelling the MAPK Signalling Pathway Using a Two-Stage Identification Algorithm
Signal transduction pathways describe the dynamics of cellular response to input signalling molecules at receptors on the cell membrane. The Mitogen-Activated Protein Kinase (MAPK) cascade is one of such pathw...
