David J. Amor

50 Flemington Road
Parkville, VIC 3052, Australia

Last Updated: 09/26/2026

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Found 263 publications

Altered Mechanical Somatosensory Processing in Young People with Cerebral Palsy: A Multisite Quantitative Sensory Testing Study.

Altered Mechanical Somatosensory Processing in Young People with Cerebral Palsy: A Multisite Quantitative Sensory Testing Study.

Journal: The journal of pain

Published: May 21, 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

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

Journal: medRxiv : the preprint server for health sciences

Published: January 02, 2026

Neuropathic pain in cerebral palsy and related genetic conditions: A scoping review of prevalence, characteristics, and management.

Neuropathic pain in cerebral palsy and related genetic conditions: A scoping review of prevalence, characteristics, and management.

Journal: Developmental medicine and child neurology

Published: December 15, 2025

Robert James McKinlay ("Mac") Gardner.

Robert James McKinlay ("Mac") Gardner.

Journal: European journal of human genetics : EJHG

Published: November 24, 2025

Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation.

Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation.

Journal: Stem cell research

Published: October 26, 2025

Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome.

Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome.

Journal: Scientific reports

Published: August 29, 2025

High-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systems.

High-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systems.

Journal: Epigenomics

Published: August 13, 2025

Functional impact of genetic background on variable expressivity in neurodevelopmental disorders.

Functional impact of genetic background on variable expressivity in neurodevelopmental disorders.

Journal: Nature communications

Published: August 11, 2025

An integrated framework for functional dissection of variable expressivity in genetic disorders.

An integrated framework for functional dissection of variable expressivity in genetic disorders.

Journal: medRxiv : the preprint server for health sciences

Published: August 08, 2025

Extended newborn screening using DNA methylation testing for fragile X syndrome in 17,107 infants.

Extended newborn screening using DNA methylation testing for fragile X syndrome in 17,107 infants.

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

Published: July 29, 2025

Expanding carrier screening: beyond the genes, to include underrepresented ancestries.

Expanding carrier screening: beyond the genes, to include underrepresented ancestries.

Journal: NPJ genomic medicine

Published: July 28, 2025

Showing 1-12 of 263

Last Updated: 09/26/2026