George Elakis

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 11 publications

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 30, 2023

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

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

Journal: European journal of human genetics : EJHG

Published: October 08, 2021

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.

Journal: The Journal of allergy and clinical immunology

Published: January 22, 2021

Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.

Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.

Journal: The Journal of molecular diagnostics : JMD

Published: September 09, 2020

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Journal: JAMA

Published: June 24, 2020

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.

Journal: American journal of medical genetics. Part A

Published: February 13, 2019

Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".

Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 10, 2018

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

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

Journal: Molecular genetics & genomic medicine

Published: August 31, 2017

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 02, 2017

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

Journal: Human molecular genetics

Published: March 14, 2016

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: October 16, 2013

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Last Updated: 09/26/2026