Wendy A. Gold

Corner Hawkesbury Rd And Hainsworth Street
Westmead, NSW 2145, Australia

Last Updated: 09/26/2026

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Found 46 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

"I felt like a lone ranger": experiences of Australian families living with KIF1A-Associated Neurological Disorder.

"I felt like a lone ranger": experiences of Australian families living with KIF1A-Associated Neurological Disorder.

Journal: Journal of community genetics

Published: March 18, 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

WWOX-Related Developmental and Epileptic Encephalopathy: Expanding the Clinical Spectrum and Deciphering the Genotype-Phenotype.

WWOX-Related Developmental and Epileptic Encephalopathy: Expanding the Clinical Spectrum and Deciphering the Genotype-Phenotype.

Journal: Neurology

Published: August 28, 2025

Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation.

Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: July 02, 2025

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Journal: European journal of human genetics : EJHG

Published: May 20, 2025

Publisher Correction: Rett syndrome.

Publisher Correction: Rett syndrome.

Journal: Nature reviews. Disease primers

Published: March 25, 2025

Understanding speech and language in KIF1A-associated neurological disorder.

Understanding speech and language in KIF1A-associated neurological disorder.

Journal: European journal of human genetics : EJHG

Published: March 02, 2025

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

Journal: Human mutation

Published: February 15, 2025

Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndrome.

Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndrome.

Journal: Scientific reports

Published: December 16, 2024

Rett syndrome.

Rett syndrome.

Journal: Nature reviews. Disease primers

Published: October 02, 2024

Epigenetic, ribosomal, and immune dysregulation in paediatric acute-onset neuropsychiatric syndrome.

Epigenetic, ribosomal, and immune dysregulation in paediatric acute-onset neuropsychiatric syndrome.

Journal: Molecular psychiatry

Published: June 28, 2024

Showing 1-12 of 46

Last Updated: 09/26/2026