Lista de obras - Karen Oliver - Dominio Público Uruguay

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

artículo científico publicado en 2010

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy

artículo científico publicado en 2015

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

artículo científico publicado en 2014

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.

artículo científico publicado en 2012

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

artículo científico publicado en 2016

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies

artículo científico publicado en 2017

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

article

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

artículo científico publicado en 2012

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

article

Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes

artículo científico publicado en 2014

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

artículo científico publicado en 2023

Initial sequencing and comparative analysis of the mouse genome

artículo científico publicado en 2002

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

artículo científico publicado en 2010

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

article

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

artículo científico publicado en 2016

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

artículo científico publicado en 2015

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

artículo científico publicado en 2017

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

artículo científico publicado en 2019

Rare protein sequence variation in SV2A gene does not affect response to levetiracetam

article

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

artículo científico publicado en 2019

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.

artículo científico publicado en 2017

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

artículo científico publicado en 2016

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

artículo científico publicado en 2013

The genome of the kinetoplastid parasite, Leishmania major

artículo científico publicado en 2005

Using familial information for variant filtering in high-throughput sequencing studies

artículo científico publicado en 2014

brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets

artículo científico publicado en 2017

Lista de obras de Karen Oliver

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Analysis of shared heritability in common disorders of the brain

Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

Initial sequencing and comparative analysis of the mouse genome

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

Rare protein sequence variation in SV2A gene does not affect response to levetiracetam

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

The genome of the kinetoplastid parasite, Leishmania major

Using familial information for variant filtering in high-throughput sequencing studies

brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets