List of works - Erin L Heinzen

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

scientific article published on 29 November 2017

A genome-wide comparison of the functional properties of rare and common genetic variants in humans

scientific article

A genome-wide investigation of SNPs and CNVs in schizophrenia

scientific article

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB

scientific article

A whole-genome analysis of premature termination codons

scientific article published on 22 July 2011

Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease

scientific article published on January 2007

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Annotating pathogenic non-coding variants in genic regions

scientific article published on 09 August 2017

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 01 April 2019

Autism and developmental disability caused by KCNQ3 gain-of-function variants

scientific article published on 26 June 2019

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

scientific article

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

scientific journal article

Correction: A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

scientific article published on 15 September 2017

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

scientific article

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

scientific article

De novo mutations in epileptic encephalopathies

scientific article

Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis

scientific article published on 22 January 2016

Distinct neurological disorders with ATP1A3 mutations

scientific article

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

scientific article published on 17 April 2015

Ethical challenges in genotype-driven research recruitment

scientific article

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

scientific article

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

scientific article

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia

scientific article

Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).

scientific article

Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance

scientific article

Genic intolerance to functional variation and the interpretation of personal genomes

scientific article

Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals

scientific article

Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions

scientific article

Genome-wide scan of copy number variation in late-onset Alzheimer's disease

scientific article

Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery

scientific article

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

scientific article published on 20 April 2016

HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

scientific article

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

scientific article

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

scientific article published on 20 July 2016

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

article

Neuronal nitric oxide modulates morphine antinociceptive tolerance by enhancing constitutive activity of the mu-opioid receptor

scientific article published on 7 January 2005

Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

scientific article published on 3 April 2007

Postmortem delay has minimal effect on brain RNA integrity

scientific article published on December 2007

Primer Part 1-The building blocks of epilepsy genetics

scientific article published on 25 May 2016

Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium

scientific article

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

scientific article

SLC25A22 is a novel gene for migrating partial seizures in infancy.

scientific article

SVA: software for annotating and visualizing sequenced human genomes

scientific article

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

scientific article

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

scientific article published on 20 April 2018

Somatic activation of AKT3 causes hemispheric developmental brain malformations

scientific article published on April 2012

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

scientific article published on September 2017

The characterization of twenty sequenced human genomes

scientific article

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 21 December 2018

The genetics of neuropsychiatric diseases: looking in and beyond the exome

scientific article published on 02 April 2015

Tissue-specific genetic control of splicing: implications for the study of complex traits

scientific article

Using ERDS to infer copy-number variants in high-coverage genomes

scientific article

Utilizing population controls in rare-variant case-parent association tests

scientific article

List of works by Erin L Heinzen

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

A genome-wide comparison of the functional properties of rare and common genetic variants in humans

A genome-wide investigation of SNPs and CNVs in schizophrenia

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB

A whole-genome analysis of premature termination codons

Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease

Analysis of shared heritability in common disorders of the brain

Annotating pathogenic non-coding variants in genic regions

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Autism and developmental disability caused by KCNQ3 gain-of-function variants

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

Correction: A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

De novo mutations in epileptic encephalopathies

Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis

Distinct neurological disorders with ATP1A3 mutations

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

Ethical challenges in genotype-driven research recruitment

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia

Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).

Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance

Genic intolerance to functional variation and the interpretation of personal genomes

Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals

Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions

Genome-wide scan of copy number variation in late-onset Alzheimer's disease

Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Neuronal nitric oxide modulates morphine antinociceptive tolerance by enhancing constitutive activity of the mu-opioid receptor

Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

Postmortem delay has minimal effect on brain RNA integrity

Primer Part 1-The building blocks of epilepsy genetics

Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

SLC25A22 is a novel gene for migrating partial seizures in infancy.

SVA: software for annotating and visualizing sequenced human genomes

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

Somatic activation of AKT3 causes hemispheric developmental brain malformations

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

The characterization of twenty sequenced human genomes

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

The genetics of neuropsychiatric diseases: looking in and beyond the exome

Tissue-specific genetic control of splicing: implications for the study of complex traits

Using ERDS to infer copy-number variants in high-coverage genomes

Utilizing population controls in rare-variant case-parent association tests