List of works - Katherine L Helbig

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

scientific article

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

scientific article published on 16 May 2019

A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology.

scientific article

Assessing the landscape of STXBP1-related disorders in 534 individuals

scientific article published on 01 June 2022

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

scientific article published on 22 April 2016

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

scientific article published in Nature Communications

Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability

scientific article

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

scientific article published on 5 October 2017

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

scientific article published on 11 August 2016

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

scientific article published on 20 January 2017

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

scientific article published on 20 February 2018

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

Current knowledge of SLC6A1-related neurodevelopmental disorders

scientific article published on 13 October 2020

DNM1 encephalopathy: A new disease of vesicle fission

scientific article

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 Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in November 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in January 2018

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

scientific article published on 15 September 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

scientific article published in December 2017

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

scientific article

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

scientific article

De novo variants in neurodevelopmental disorders with epilepsy

scientific article published on 25 June 2018

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

scientific article published on 10 December 2019

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

scientific article

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.

scientific article

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

scientific article published on 21 January 2016

Erratum: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

scientific article published in February 2018

Exploration of the genetic architecture of idiopathic generalized epilepsies.

scientific article published in October 2006

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

scientific article

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

scientific article published on 4 April 2017

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

scientific article published on 17 March 2020

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

scientific article published on 25 August 2017

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

scientific article published on 19 July 2016

Male patients affected by mosaic PCDH19 mutations: five new cases.

scientific article

Mutations in SCN3A cause early infantile epileptic encephalopathy

scientific article published on 30 March 2018

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

scientific article published on 09 November 2018

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

scientific article published on 01 February 2019

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

scientific article

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

scientific article published on 08 December 2019

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

article

Reply

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

scientific article published on 08 June 2020

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

scientific article published on 20 August 2020

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

article

The role of genetic testing in epilepsy diagnosis and management

scientific article

Three cases of Troyer syndrome in two families of Filipino descent.

scientific article published on 26 April 2016

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

scientific article published on 11 August 2015

Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome

scientific article published on 14 July 2020

List of works by Katherine L Helbig

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology.

Assessing the landscape of STXBP1-related disorders in 534 individuals

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Clinical spectrum of STX1B-related epileptic disorders.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Current knowledge of SLC6A1-related neurodevelopmental disorders

DNM1 encephalopathy: A new disease of vesicle fission

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

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

De novo variants in neurodevelopmental disorders with epilepsy

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

Erratum: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Exploration of the genetic architecture of idiopathic generalized epilepsies.

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Male patients affected by mosaic PCDH19 mutations: five new cases.

Mutations in SCN3A cause early infantile epileptic encephalopathy

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

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

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

Reply

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

The role of genetic testing in epilepsy diagnosis and management

Three cases of Troyer syndrome in two families of Filipino descent.

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome