Prof David Amor
Galli Chair in Developmental Medicine
Department of Paediatrics
468 Scholarly works
5 Projects
HIGHLIGHTS
2026
Journal article
Expanding carrier screening: beyond the genes, to include underrepresented ancestries
DOI: 10.1038/s41525-025-00545-w2026
Journal article
Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader–Willi syndrome
DOI: 10.1038/s41598-025-33041-32026
Journal article
Implementing Publicly Funded Fetal Exome Sequencing: A Statewide Multidisciplinary Model for Equitable Integration of Genomics Into Perinatal Care
DOI: 10.1002/pd.700602026
Journal article
Functional impact of genetic background on variable expressivity in neurodevelopmental disorders.
DOI: 10.1038/s41467-026-72598-z2026
Journal article
LONP1 Variants Are Associated With Clinically Diverse Phenotypes
DOI: 10.1111/cge.700572026
Journal article
Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation
DOI: 10.1016/j.scr.2026.1039222017
Research Contracts
Salary Contribution for Dr. Tamara May - 17/18
RECENT SCHOLARLY WORKS
2026
Journal article
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort
DOI: 10.1038/s41431-025-02009-22026
Journal article
From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing
DOI: 10.1038/s41431-025-01953-32026
Journal article
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
DOI: 10.1172/JCI1879982026
Journal article
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics
DOI: 10.1002/ajmg.a.70191
RECENT PROJECTS
2020
Research Contracts
The Impact of COVID-19 on Service Provision for Children and Young People Following Major Traumatic Injury: A Longitudinal, Qualitative Study
2014
Research Grant
Identification of Men With a Genetic Predisposition to Prostate Cancer: Targeted Screening in Men at Higher Genetic Risk and Controls – The Impact Study
2011
Research Grant
The IMPACT Study
2011
Research Grant
The IMPACT Study