Rachel Irving
Whitchurch Hospital(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, BRCA gene mutations in cancer, Sports Performance and Training, Genomics and Chromatin Dynamics
Most-Cited Works
- → De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development(2017)132 cited
- → Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients(2023)13 cited
- → SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum(2023)10 cited
- → The translation of psychiatric genetic findings to the clinic(2023)7 cited
- → POU3F3 ‐related disorder: Defining the phenotype and expanding the molecular spectrum(2023)6 cited
- → Genomic testing in neurology(2023)4 cited
- → Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders(2024)4 cited
- → Influence of Training-induced Testosterone and Cortisol Changes on Skeletal Muscle and Performance in Elite Junior Athletes(2021)2 cited
- → Ethical and Social Issues in Clinical Genetics(2018)1 cited
- → Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders(2023)1 cited