List of works - Gemma L Carvill

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies

scientific article published on 13 March 2020

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

scientific article published on 5 December 2017

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

scientific article published on 19 April 2018

CACNA1H variants are not a cause of monogenic epilepsy

scientific article published on 30 March 2020

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

scientific article

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

scientific article published on 12 March 2014

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

scientific article published on 11 August 2013

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

scientific article

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

scientific article published in May 2014

Mutations in KCNT1 cause a spectrum of focal epilepsies.

scientific article

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

scientific article

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

scientific article published on 18 March 2021

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

scientific article published on 31 January 2019

Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

scientific article

The phenotypic spectrum of SCN8A encephalopathy

scientific article

Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era

scientific article published on 24 September 2018

List of works by Gemma L Carvill

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

CACNA1H variants are not a cause of monogenic epilepsy

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Defining the phenotypic spectrum of SLC6A1 mutations

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

The phenotypic spectrum of SCN8A encephalopathy

Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era