Thomas S. Scerri

Parkville, NSW 3052, Australia

Last Updated: 09/26/2026

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Found 22 publications

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

Journal: Brain : a journal of neurology

Published: May 12, 2023

Atypical development of Broca's area in a large family with inherited stuttering.

Atypical development of Broca's area in a large family with inherited stuttering.

Journal: Brain : a journal of neurology

Published: April 20, 2021

Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression.

Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression.

Journal: Genome medicine

Published: July 08, 2020

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia.

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia.

Journal: Molecular psychiatry

Published: November 29, 2019

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.

Journal: Nature communications

Published: September 20, 2019

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Journal: Neurology

Published: July 30, 2019

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

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

Published: January 14, 2019

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia.

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia.

Journal: Translational psychiatry

Published: December 06, 2018

Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.

Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.

Journal: Journal of clinical immunology

Published: April 06, 2018

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

Journal: Human molecular genetics

Published: March 12, 2018

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

Journal: Molecular psychiatry

Published: September 22, 2017

The DCDC2 deletion is not a risk factor for dyslexia.

The DCDC2 deletion is not a risk factor for dyslexia.

Journal: Translational psychiatry

Published: January 26, 2017

Showing 1-12 of 22

Last Updated: 09/26/2026