Emily R. Anderson
Liverpool, ENG L87SS, United Kingdom
Last Updated: 09/26/2026
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Found 8 publications
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.
Journal: Genome medicine
Published: November 21, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Journal: American journal of human genetics
Published: November 12, 2023
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Journal: medRxiv : the preprint server for health sciences
Published: September 25, 2023
Hereditary haemorrhagic telangiectasia: development of a regional life-course collaborative clinical care pathway.
Journal: British journal of hospital medicine (London, England : 2005)
Published: November 24, 2021
Obstinate leg ulceration secondary to prolidase deficiency, treated with 5% topical proline.
Journal: Clinical and experimental dermatology
Published: October 08, 2021
Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia.
Journal: Thorax
Published: October 08, 2021
Desmoid tumour: rare presentation following neonatal lumbar puncture.
Journal: Archives of disease in childhood. Fetal and neonatal edition
Published: May 13, 2019
Showing 1-8 of 8
Last Updated: 09/26/2026