Amber Boys
Flemington Road
Melbourne, VIC, Australia
Melbourne, VIC, Australia
Last Updated: 09/26/2026
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Found 19 publications
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Journal: medRxiv : the preprint server for health sciences
Published: September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Journal: Cell
Published: August 19, 2024
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Journal: Molecular psychiatry
Published: September 18, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.
Journal: European journal of human genetics : EJHG
Published: September 07, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Journal: Human mutation
Published: March 10, 2022
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Journal: Human molecular genetics
Published: November 04, 2021
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy.
Journal: Neurology. Genetics
Published: August 20, 2021
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.
Journal: Neurology
Published: July 30, 2019
Dorsal language stream anomalies in an inherited speech disorder.
Journal: Brain : a journal of neurology
Published: August 06, 2018
Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.
Journal: European journal of medical genetics
Published: July 16, 2018
Last Updated: 09/26/2026