Sean Massey

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 15 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

Biallelic SIDT2 loss-of-function in a child with cerebellar ataxia and lysosomal dysfunction mimics impairment of SIDT2 in mice.

Biallelic SIDT2 loss-of-function in a child with cerebellar ataxia and lysosomal dysfunction mimics impairment of SIDT2 in mice.

Journal: Journal of medical genetics

Published: January 21, 2025

Cannabinoids and Genetic Epilepsy Models: A Review with Focus on CDKL5 Deficiency Disorder.

Cannabinoids and Genetic Epilepsy Models: A Review with Focus on CDKL5 Deficiency Disorder.

Journal: International journal of molecular sciences

Published: August 30, 2024

Correction: Novel CDKL5 targets identified in human iPSC-derived neurons.

Correction: Novel CDKL5 targets identified in human iPSC-derived neurons.

Journal: Cellular and molecular life sciences : CMLS

Published: August 23, 2024

Novel CDKL5 targets identified in human iPSC-derived neurons.

Novel CDKL5 targets identified in human iPSC-derived neurons.

Journal: Cellular and molecular life sciences : CMLS

Published: March 26, 2024

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.

Journal: Neurology. Genetics

Published: June 02, 2022

CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.

CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.

Journal: Biochemical Society transactions

Published: May 30, 2022

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.

Journal: International journal of molecular sciences

Published: December 20, 2021

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

Journal: Human molecular genetics

Published: June 19, 2021

Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder.

Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder.

Journal: Neurobiology of disease

Published: December 14, 2020

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: February 12, 2020

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

Journal: Human mutation

Published: November 19, 2019

Showing 1-12 of 15

Last Updated: 09/26/2026