Author

Amber Boys

Murdoch Children's Research InstituteORCID 0000-0003-0802-1351Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

David J. AmoriD· 2 shared Alessandra RenieriiD· 1 shared Alexandre ReymondiD· 1 shared Anastasia TyryshkinaiD· 1 shared Angela Tamsin MorganiD· 1 shared Anke Van DijckiD· 1 shared Anne‐Laure Mosca‐BoidroniD· 1 shared Antony KaspiiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

David J. AmorORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineCellPeer-reviewedOct 7, 2025

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina…·Santhosh Girirajan

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

18 citationstop 1%

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicineMolecular PsychiatryPeer-reviewedSep 18, 2022

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson…·Angela Tamsin Morgan

This study identifies 18 high-confidence genetic variants in 26% of childhood apraxia of speech cases, expanding the list of candidate genes and highlighting shared pathways with other neurodevelopmental disorders.

40 citationstop 3%

humanwhole-exome sequencing

𝕏 PostBluesky