about
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeSimultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyGenome-wide meta-analysis identifies new susceptibility loci for migraine.Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraineDe novo mutations in HCN1 cause early infantile epileptic encephalopathy.De novo mutations in schizophrenia implicate synaptic networksEvaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.Genetic analysis for a shared biological basis between migraine and coronary artery disease.Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.Modelling molecular interaction pathways using a two-stage identification algorithm.Pitfalls in genetic testing: the story of missed SCN1A mutations.Migraine genetics: from genome-wide association studies to translational insights.Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.Shared genetic risk between migraine and coronary artery disease: A genome-wide analysis of common variants.Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling.Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 FamiliesErratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraineReverse Engineering of Biochemical Reaction Networks Using Co-evolution with Eng-GenesContribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern FinlandThe contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine familiesContribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Padhraig Gormley
@ast
Padhraig Gormley
@en
Padhraig Gormley
@es
Padhraig Gormley
@nl
Padhraig Gormley
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type
label
Padhraig Gormley
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Padhraig Gormley
@en
Padhraig Gormley
@es
Padhraig Gormley
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Padhraig Gormley
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prefLabel
Padhraig Gormley
@ast
Padhraig Gormley
@en
Padhraig Gormley
@es
Padhraig Gormley
@nl
Padhraig Gormley
@sl
P108
P106
P1153
23392310300
P31
P496
0000-0002-8908-6968