List of works - Elizabeth E Palmer

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy

scientific article published in October 2017

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

scientific article published in February 2018

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

scientific article

Agenesis of the corpus callosum: a clinical approach to diagnosis.

scientific article published on 27 May 2014

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

scientific article published on 14 August 2015

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability

scientific article published on 05 December 2013

Chromosome microarray in Australia: a guide for paediatricians.

scientific article published on February 2012

Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing.

scientific article published on 27 April 2017

DNM1 encephalopathy: A new disease of vesicle fission

scientific article

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

scientific article published on 28 February 2019

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

scientific article published on 29 March 2019

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

scientific article published on 23 August 2016

Dissecting the clinical outcome and cause of abnormalities of the corpus callosum

scientific article published on 18 February 2016

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

scientific article published on 20 July 2016

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

scientific article published on 20 July 2018

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

scientific article

Learning to make a difference for chILD: Value creation through network collaboration and team science

scientific article published in 2023

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy

scientific article

New insights into Brunner syndrome and potential for targeted therapy.

scientific article published on 23 March 2015

STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?

scientific article published on 20 June 2019

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

scientific article published on 14 June 2018

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

scientific article published on 11 August 2019

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

scientific article

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

scientific article published on 26 September 2016

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

scientific article published on 9 April 2018

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

scientific article published on 11 February 2019

List of works by Elizabeth E Palmer

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

Agenesis of the corpus callosum: a clinical approach to diagnosis.

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability

Chromosome microarray in Australia: a guide for paediatricians.

Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing.

DNM1 encephalopathy: A new disease of vesicle fission

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Dissecting the clinical outcome and cause of abnormalities of the corpus callosum

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

Learning to make a difference for chILD: Value creation through network collaboration and team science

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy

New insights into Brunner syndrome and potential for targeted therapy.

STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature