Lista de obras -

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

artículo científico publicado en 2021

Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy

artículo científico publicado en 2019

An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

artículo científico publicado en 2019

CHD2 variants are a risk factor for photosensitivity in epilepsy

artículo científico publicado en 2015

Climate change and epilepsy: Time to take action

scientific article published on 20 September 2019

Climate change and the brain

artículo científico publicado en 2023

Clinical spectrum of STX1B-related epileptic disorders.

artículo científico publicado en 2019

Common genetic variants influence human subcortical brain structures

artículo científico publicado en 2015

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

scientific article published on 04 July 2019

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

artículo científico publicado en 2020

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

De novo variants in neurodevelopmental disorders with epilepsy

artículo científico publicado en 2018

Diagnostic implications of genetic copy number variation in epilepsy plus

artículo científico publicado en 2019

ENIGMA and the individual: Predicting factors that affect the brain in 35 countries worldwide

artículo científico publicado en 2015

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

artículo científico publicado en 2013

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

scholarly article published 28 August 2017

Genetic architecture of subcortical brain structures in 38,851 individuals

scientific article published on 21 October 2019

Genetics of epilepsy: epilepsy research foundation workshop report

artículo científico publicado en 2007

Genome annotation for clinical genomic diagnostics: strengths and weaknesses

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Genomic and clinical predictors of lacosamide response in refractory epilepsies

artículo científico publicado en 2019

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

artículo científico publicado en 2017

Identification of common variants associated with human hippocampal and intracranial volumes

artículo científico publicado en 2012

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

artículo científico publicado en 2019

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

artículo científico publicado en 2020

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

artículo científico publicado en 2018

Neuropeptide depletion in the amygdala in sudden unexpected death in epilepsy: A postmortem study

artículo científico publicado en 2020

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

artículo científico publicado en 2016

P-glycoprotein overactivity in epileptogenic developmental lesions measured in vivo using (R)-[11 C]verapamil PET

artículo científico publicado en 2020

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

artículo científico publicado en 2019

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

artículo científico publicado en 2019

SCN1A testing for epilepsy: application in clinical practice.

artículo científico publicado en 2013

Testing association of rare genetic variants with resistance to three common antiseizure medications

artículo científico publicado en 2020

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

artículo científico publicado en 2014

The genetic architecture of the human cerebral cortex

artículo científico publicado en 2020

The landscape of epilepsy-related GATOR1 variants

artículo científico publicado en 2018

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

Transcranial magnetic stimulation as a tool to understand genetic conditions associated with epilepsy

artículo científico publicado en 2020

White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

artículo científico publicado en 2020

Lista de obras de

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy

An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases

Analysis of shared heritability in common disorders of the brain

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

CHD2 variants are a risk factor for photosensitivity in epilepsy

Climate change and epilepsy: Time to take action

Climate change and the brain

Clinical spectrum of STX1B-related epileptic disorders.

Common genetic variants influence human subcortical brain structures

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Correction: The landscape of epilepsy-related GATOR1 variants

De novo variants in neurodevelopmental disorders with epilepsy

Diagnostic implications of genetic copy number variation in epilepsy plus

ENIGMA and the individual: Predicting factors that affect the brain in 35 countries worldwide

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

Genetic architecture of subcortical brain structures in 38,851 individuals

Genetics of epilepsy: epilepsy research foundation workshop report

Genome annotation for clinical genomic diagnostics: strengths and weaknesses

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

Genomic and clinical predictors of lacosamide response in refractory epilepsies

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

Identification of common variants associated with human hippocampal and intracranial volumes

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

Neuropeptide depletion in the amygdala in sudden unexpected death in epilepsy: A postmortem study

Novel genetic loci associated with hippocampal volume

Novel genetic loci underlying human intracranial volume identified through genome-wide association

P-glycoprotein overactivity in epileptogenic developmental lesions measured in vivo using (R)-[11 C]verapamil PET

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

SCN1A testing for epilepsy: application in clinical practice.

Testing association of rare genetic variants with resistance to three common antiseizure medications

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

The genetic architecture of the human cerebral cortex

The genetic architecture of the human cerebral cortex

The landscape of epilepsy-related GATOR1 variants

The spectrum of intermediate SCN8A-related epilepsy

Transcranial magnetic stimulation as a tool to understand genetic conditions associated with epilepsy

White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study