E. Palmer

发表

Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy

S. Rosenbaum, G. McKeon, E. Palmer, 2021, Epilepsy & Behavior.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, Bradley P. Coe, 2020, Nature Communications.

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

B. V. van Bon, K. Friend, M. Shaw, 2015, American journal of human genetics.

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

D. Rader, A. Bye, F. Alkuraya, 2016, Human molecular genetics.

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

I. Scheffer, H. Mefford, G. Cioni, 2021, Brain : a journal of neurology.

Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid.

J. Fleming, K. Barlow-Stewart, J. Boyle, 2020, Journal of genetic counseling.

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

M. Shaw, J. Gécz, E. Thorland, 2020, American journal of human genetics.

Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy

K. Barlow-Stewart, C. Wakefield, K. Kothur, 2021, Developmental Medicine & Child Neurology.

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

A. Bye, M. Cowley, M. Dinger, 2017, Cell reports.

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

I. Scheffer, D. Gill, K. Howell, 2022, Developmental medicine and child neurology.

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

R. Pfundt, E. Kossoff, E. Leshinsky‐Silver, 2016, Epilepsia.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Automated ASD detection using hybrid deep lightweight features extracted from EEG signals

N. Arunkumar, Oliver Faust, Enas W. Abdulhay, 2021, Comput. Biol. Medicine.

Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies

I. Scheffer, K. Howell, E. Palmer, 2021, Neurotherapeutics.

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

E. Palmer, 2016, Developmental medicine and child neurology.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

M. Cowley, M. Dinger, A. Minoche, 2022, European Journal of Human Genetics.

Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty

A. Bye, E. Palmer, Rebecca Macintosh, 2022, Journal of paediatrics and child health.

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

M. Tarnopolsky, K. Boycott, B. Kamien, 2017, Orphanet Journal of Rare Diseases.

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

S. White, D. Efron, E. Palmer, 2017, Journal of paediatrics and child health.

Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty

A. Bye, E. Palmer, Rebecca Macintosh, 2022, Journal of paediatrics and child health.

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

T. Dudding-Byth, D. Phelan, M. Field, 2019, International journal of molecular sciences.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, B. Coe, 2020, Nature Communications.

Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope

A. Bye, E. Palmer, Rebecca Macintosh, 2022, Journal of paediatrics and child health.

Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol

E. Palmer, Rebecca Macintosh, S. Nevin, 2022, BMJ Open.

New insights into Brunner syndrome and potential for targeted therapy

M. Shaw, J. Gécz, S. Haas, 2016, Clinical genetics.

Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

E. Palmer, 2021, European Journal of Human Genetics.

Anti-seizure mechanisms of midazolam and valproate at the β2(L51M) variant of the GABAA receptor

I. Vetter, A. Keramidas, E. Palmer, 2022, Neuropharmacology.

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

Marcel E Dinger, Tony Roscioli, Ying Zhu, 2018, Molecular genetics & genomic medicine.

Brunner syndrome associated MAOA dysfunction in human dopaminergic neurons results in NMDAR hyperfunction and increased network activity

B. Franke, D. Schubert, H. Brunner, 2020, bioRxiv.

Chromosome microarray in Australia: A guide for paediatricians

G. Peters, E. Palmer, D. Mowat, 2012, Journal of paediatrics and child health.

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

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

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

M. Shaw, J. Gécz, A. Reis, 2016, Journal of Medical Genetics.

Genetics of Epileptic Encephalopathies

A. Bye, E. Palmer, Rebecca Macintosh, 2017 .

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

S. Mundlos, S. Kummerfeld, L. Hesson, 2021, Neurology.

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

J. Rosenfeld, P. Stankiewicz, A. Breman, 2018, Cell.

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

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability

M. Shaw, J. Gécz, C. Schwartz, 2021, Human mutation.

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

Fajr A. Aleisa, J. Rosenfeld, A. Bye, 2019, American journal of human genetics.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

Agenesis of the corpus callosum: A clinical approach to diagnosis

E. Palmer, D. Mowat, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

DNM1 encephalopathy

I. Scheffer, H. Kirsch, S. Sisodiya, 2017, Neurology.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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

J. Rosenfeld, M. Shaw, J. Gécz, 2017, American journal of human genetics.

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

A. Mackay-Sim, M. Cowley, M. Dinger, 2018, Molecular genetics and metabolism reports.

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

J. Rosenfeld, M. Shaw, E. Haan, 2016, Molecular Psychiatry.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

S. Antonarakis, S. Ellard, R. Truty, 2021, Genetics in Medicine.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

Siblings of young people with chronic illness: Caring responsibilities and psychosocial functioning

C. Y. Ooi, C. Wakefield, E. Palmer, 2021, Journal of child health care : for professionals working with children in the hospital and community.

Quantitative neurogenetics: applications in understanding disease.

Nigel H. Lovell, N. Lovell, H. Alinejad-Rokny, 2021, Biochemical Society transactions.

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

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

A Review on Computer Aided Diagnosis of Acute Brain Stroke

Anjan Gudigar, Edward J. Ciaccio, Kang Hao Cheong, 2021, Sensors.

The information needs of parents of children with early-onset epilepsy: A systematic review

A. Bye, C. Wakefield, E. Palmer, 2020, Epilepsy & Behavior.

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

A. Bye, M. Cowley, M. Dinger, 2015, Molecular genetics and metabolism.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

C. Nellåker, F. Alkuraya, D. Lacombe, 2021, Clinical genetics.

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

L. Bouneau, C. Rooryck, Angèle Tingaud-Sequeira, 2022, Journal of Medical Genetics.

Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2

T. Roscioli, M. Field, E. Palmer, 2022, Movement disorders clinical practice.

STXBP1 encephalopathy

B. Collins, F. Meunier, Julie Z Brouillet, 2019, Neurology.

Application of Deep Learning Models for Automated Identification of Parkinson’s Disease: A Review (2011–2021)

Ooi Chui Ping, J. Soar, R. Deo, 2021, Italian National Conference on Sensors.