K. Oliver

发表

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

Saskia Freytag, M. Bahlo, R. Burgess, 2017, Genome Medicine.

Analysis of shared heritability in common disorders of the brain

Nick C Fox, Dan J Stein, Janice M. Fullerton, 2018, Science.

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

Katherine R. Smith, M. Bahlo, K. Oliver, 2014, Human Genetics.

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

Melanie Bahlo, Samuel F. Berkovic, Ingrid E. Scheffer, 2014, PloS one.

The epilepsy phenome/genome project.

A. Carpenter, V. Mays, Jody Hessling, 2013 .

Evidence of linkage to chromosome 5p13.2‐q11.1 in a large inbred family with genetic generalized epilepsy

S. Berkovic, M. Bahlo, E. Andermann, 2018, Epilepsia.

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

G. Carvill, I. Scheffer, H. Mefford, 2019, Human Mutation.

Multiplex families with epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, Neurology.

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery

Colin A. Ellis, Andrew J. Bass, I. Scheffer, 2022, EBioMedicine.

The role of common genetic variation in presumed monogenic epilepsies

Colin A. Ellis, I. Scheffer, Y. Feng, 2022, EBioMedicine.

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

Katherine R. Smith, I. Scheffer, G. Plazzi, 2012, Nature Genetics.

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

F. Andermann, A. Zeman, S. Berkovic, 2018, Brain : a journal of neurology.

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

S. Berkovic, A. Korczyn, Manuela Pendziwiat, 2016, Epilepsia.

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

I. Scheffer, S. Berkovic, K. Oliver, 2014, Epilepsia.

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

I. Scheffer, J. Gécz, S. Berkovic, 2020, European Journal of Human Genetics.

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

I. Scheffer, S. Berkovic, J. Mulley, 2012, Epilepsy Research.

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

I. Scheffer, S. Berkovic, J. Mulley, 2010, Epilepsia.

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

S. Berkovic, S. Petrovski, K. Oliver, 2022 .

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

S. Berkovic, M. Bahlo, K. Oliver, 2017, Epilepsy Research.

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

Katherine R. Smith, S. Berkovic, M. Bahlo, 2016, Neurology.

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

S. Berkovic, K. Oliver, B. Mostacci, 2015, European journal of medical genetics.

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

J. Gécz, G. Jackson, S. Berkovic, 2013, Epilepsy Research.

A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.

Liam G. Fearnley, I. Scheffer, D. Balding, 2022, American journal of human genetics.

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

I. Scheffer, Anand Vasudevan, K. Oliver, 2022, European Journal of Human Genetics.

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

S. Berkovic, A. Korczyn, K. Oliver, 2010, Epilepsia.

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

Michael R. Johnson, I. Scheffer, D. Goldstein, 2014, The Lancet Neurology.

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

C. Gieger, I. Scheffer, T. Wienker, 2012, Human molecular genetics.

Progressive Myoclonus Epilepsies

P. Striano, R. Michelucci, S. Berkovic, 1999 .

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery

I. Scheffer, S. Berkovic, Saskia Freytag, 2016, Neurology: Genetics.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

M. Daly, I. Scheffer, A. Palotie, 2014, Nature Genetics.

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

J. Gécz, G. Jackson, S. Berkovic, 2010, American journal of human genetics.

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

C. Reid, J. Massano, D. Friedman, 2017, Annals of neurology.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

I. Scheffer, H. Mefford, D. Goldstein, 2017, American journal of human genetics.

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

I. Scheffer, A. Palotie, P. Striano, 2021, American journal of human genetics.

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Christian Gieger, Norman Delanty, Ellen Campbell, 2018, Nature Communications.

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

Saskia Freytag, M. Bahlo, R. Burgess, 2017, Genome Medicine.

TBC1D24 genotype–phenotype correlation

J. Rosenfeld, I. Scheffer, J. Gécz, 2016, Neurology.

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

I. Scheffer, P. Striano, A. Becker, 2019, Epilepsia.

Benign Neonatal Sleep Myoclonus

I. Scheffer, S. Berkovic, A. Korczyn, 2012, Journal of child neurology.

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

G. Borsani, L. Mazzola, S. Berkovic, 2020, Annals of neurology.

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

I. Scheffer, S. Berkovic, A. Korczyn, 2015, Human molecular genetics.

Epilepsy with Early Ataxia

S. Berkovic, A. Korczyn, M. Bahlo, 2015 .

Using common genetic variants to find drugs for common epilepsies

David F. Smith, C. Gieger, I. Scheffer, 2021, Brain Communications.

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation

I. Scheffer, K. Kaila, S. Berkovic, 2014, EMBO reports.

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

I. Scheffer, H. Mefford, M. Bahlo, 2023, Epilepsia.

Impaired Regulation of Intracellular Chloride Cortical Neurons Lacking KCC2 Expression Show

D. Lovinger, K. Kaila, S. Berkovic, 2015 .

Genome-wide Association Analysis of Genetic Generalized Epilepsies Implicates Susceptibility Loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Epicure Consortium

C. Gieger, I. Scheffer, T. Wienker, 2022 .

Recognition and epileptology of protracted CLN3 disease

I. Scheffer, S. Berkovic, P. Carney, 2023, Epilepsia.

ExACtly zero or once

S. Berkovic, S. Petrovski, K. Oliver, 2017, Neurology: Genetics.

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

Katherine R. Smith, M. Bahlo, K. Oliver, 2014, Human Genetics.