Rachel Irving

Statistics

Publications

Citations

160

H-Index

Active since

2017

Affiliations

University Hospitals Bristol and Weston NHS Foundation Trust(Current)

Birmingham Women’s and Children’s NHS Foundation Trust

National Health Service Wales

University Hospital of Wales

Cardiff and Vale University Health Board

Rachel Irving is an author at University Hospitals Bristol and Weston NHS Foundation Trust specializing in molecular genetics, ocular genetics, and life sciences.

Publications per year

2017–2023

Publications

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher T. Gordon, Shifeng Xue, Gökhan Yigit et al. · Nature Genetics · 2017 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients

Asma Hamad, Charlotte Sherlaw‐Sturrock, Kate Glover et al. · European Journal of Medical Genetics · 2023 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

<scp><i>SOX5</i></scp>: <scp>Lamb–Shaffer</scp> syndrome—A case series further expanding the phenotypic spectrum

Katharine Edgerley, Lisa Bryson, Lucy Hanington et al. · American Journal of Medical Genetics Part A · 2023 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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