Lista de obras -

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

artículo científico publicado en 2014

Assessment of genetic variant burden in epilepsy-associated brain lesions

scientific article published on 29 July 2019

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

artículo científico publicado en 2015

Clinical spectrum of STX1B-related epileptic disorders.

artículo científico publicado en 2019

Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants

artículo científico publicado en 2020

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

artículo científico publicado en 2022

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

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

artículo científico publicado en 2016

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

artículo científico publicado en 2018

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies

article

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

artículo científico publicado en 2017

Identification of pathogenic variant enriched regions across genes and gene families

artículo científico publicado en 2019

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

artículo científico publicado en 2016

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

artículo científico publicado en 2013

Polygenic risk heterogeneity among focal epilepsies

scientific article published on 14 October 2020

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

scientific article published on 01 August 2020

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

article

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy ⬇️

artículo científico publicado el 25 de enero de 2013

Rare gene deletions in genetic generalized and Rolandic epilepsies

artículo científico publicado en 2018

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

artículo científico publicado en 2015

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

artículo científico publicado en 2015

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database

artículo científico publicado en 2019

Spectrum of GABAA receptor variants in epilepsy

scientific article published on 01 April 2019

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

scientific article published on 21 March 2022

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

Variant Score Ranker-a web application for intuitive missense variant prioritization

scientific article published on 01 November 2019

Lista de obras de

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Assessment of genetic variant burden in epilepsy-associated brain lesions

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

Clinical spectrum of STX1B-related epileptic disorders.

Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

De novo variants in neurodevelopmental disorders with epilepsy

Diagnostic implications of genetic copy number variation in epilepsy plus

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

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies

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

Identification of pathogenic variant enriched regions across genes and gene families

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

Lessons learned from 40 novel PIGA patients and a review of the literature

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Polygenic risk heterogeneity among focal epilepsies

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

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

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy ⬇️

Rare gene deletions in genetic generalized and Rolandic epilepsies

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database

Spectrum of GABAA receptor variants in epilepsy

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

The spectrum of intermediate SCN8A-related epilepsy

Variant Score Ranker-a web application for intuitive missense variant prioritization