Siobhan A. O'sullivan
Belfast, NIR BT97AB, United Kingdom
Last Updated: 09/26/2026
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Found 16 publications
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Published: April 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Journal: American journal of human genetics
Published: April 01, 2025
250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlation.
Journal: Molecular genetics and metabolism
Published: February 23, 2025
Global surgery: Impact beyond measure and the vital role of trainee engagement.
Journal: Journal of plastic, reconstructive & aesthetic surgery : JPRAS
Published: November 01, 2023
Pause for thought: The impact of the menopause on women in the workplace.
Journal: Journal of plastic, reconstructive & aesthetic surgery : JPRAS
Published: October 10, 2023
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Journal: Life (Basel, Switzerland)
Published: September 22, 2022
PLACK syndrome: the penny dropped.
Journal: Clinical and experimental dermatology
Published: July 15, 2020
Amino Acids and Inherited Amino Acid-Related Disorders.
Journal: Journal of nutrition and metabolism
Published: May 10, 2018
Catalogue of inherited disorders found among the Irish Traveller population.
Journal: Journal of medical genetics
Published: August 10, 2017
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Journal: Metabolic brain disease
Published: April 25, 2017
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Journal: Journal of inherited metabolic disease
Published: May 23, 2016
Last Updated: 09/26/2026