List of works - Padhraig Gormley

De novo mutations in schizophrenia implicate synaptic networks

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Genome-wide meta-analysis identifies new susceptibility loci for migraine

scientific article

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

scientific article

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

scientific article

Genetic analysis for a shared biological basis between migraine and coronary artery disease

scientific article published on June 2015

Pitfalls in genetic testing: the story of missed SCN1A mutations

scientific article published on 14 April 2016

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

scientific article

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.

scientific article published on 21 July 2015

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

scientific journal article

Analysis of shared heritability in common disorders of the brain

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

scientific article published on 5 October 2017

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published 16 May 2018 in Neuron

Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article published in October 2016

Migraine genetics: from genome-wide association studies to translational insights

scientific article published on 19 August 2016

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

scientific article published on 29 July 2017

Shared genetic risk between migraine and coronary artery disease: A genome-wide analysis of common variants

scientific article published on 28 September 2017

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

scientific article

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

scientific article published in Nature Communications

The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families

article by Marjo Eveliina Hiekkala et al published 27 February 2018 in Cephalalgia

Modelling molecular interaction pathways using a two-stage identification algorithm.

scientific article

Reverse Engineering of Biochemical Reaction Networks Using Co-evolution with Eng-Genes

article

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

scientific article published in December 2017

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

scholarly article published 28 May 2018

List of works by Padhraig Gormley

De novo mutations in schizophrenia implicate synaptic networks

Analysis of shared heritability in common disorders of the brain

Genome-wide meta-analysis identifies new susceptibility loci for migraine

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Genetic analysis for a shared biological basis between migraine and coronary artery disease

Pitfalls in genetic testing: the story of missed SCN1A mutations

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

Analysis of shared heritability in common disorders of the brain

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

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

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families

Modelling molecular interaction pathways using a two-stage identification algorithm.

Reverse Engineering of Biochemical Reaction Networks Using Co-evolution with Eng-Genes

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland