John Christodoulou

30 Flemington Road
Parkville, VIC 3052, Australia

Last Updated: 09/26/2026

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Found 263 publications

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Journal: Clinical genetics

Published: May 07, 2026

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

Journal: JAMA neurology

Published: May 04, 2026

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Journal: medRxiv : the preprint server for health sciences

Published: March 23, 2026

A flexible synthetic diet platform for Drosophila nutrigenomics.

A flexible synthetic diet platform for Drosophila nutrigenomics.

Journal: Genes & nutrition

Published: March 15, 2026

Speech, language, social communication, and communication assessments in Rett syndrome: A systematic review.

Speech, language, social communication, and communication assessments in Rett syndrome: A systematic review.

Journal: Developmental medicine and child neurology

Published: March 11, 2026

Generation, heterozygous repair and characterization of human iPSC lines from two individuals with KIF1A-Associated Neurological Disorder.

Generation, heterozygous repair and characterization of human iPSC lines from two individuals with KIF1A-Associated Neurological Disorder.

Journal: Stem cell research

Published: March 06, 2026

NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.

NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.

Journal: Journal of inherited metabolic disease

Published: March 04, 2026

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Journal: Neurology

Published: February 13, 2026

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.

Journal: American journal of medical genetics. Part A

Published: January 27, 2026

Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implications.

Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implications.

Journal: European journal of human genetics : EJHG

Published: December 17, 2025

The value of functional genomics: a contingent valuation.

The value of functional genomics: a contingent valuation.

Journal: Expert review of pharmacoeconomics & outcomes research

Published: December 16, 2025

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Journal: Therapeutic advances in rare disease

Published: November 19, 2025

Showing 1-12 of 263

Last Updated: 09/26/2026