Lista de obras - Padhraig Gormley - Dominio Público Uruguay

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

artículo científico publicado en 2015

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Analysis of shared heritability in common disorders of the brain

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

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

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

artículo científico publicado en 2019

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

artículo científico publicado en 2013

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

artículo científico publicado en 2014

De novo mutations in schizophrenia implicate synaptic networks

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

artículo científico publicado en 2017

Pitfalls in genetic testing: the story of missed SCN1A mutations

artículo científico publicado en 2016

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

article

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

artículo científico publicado en 2017

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

scientific journal article

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

artículo científico publicado en 2017

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

Lista de obras de Padhraig Gormley

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

Analysis of shared heritability in common disorders of the brain

Analysis of shared heritability in common disorders of the brain

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

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

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

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

De novo mutations in schizophrenia implicate synaptic networks

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

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

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

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

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

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

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

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

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

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

Pitfalls in genetic testing: the story of missed SCN1A mutations

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

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

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

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