James B. O'sullivan
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 48 publications
Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature.
Journal: American journal of medical genetics. Part A
Published: April 04, 2025
Development and Validation of a Rapid Point-of-Care CYP2C19 Genotyping Platform.
Journal: The Journal of molecular diagnostics : JMD
Published: September 11, 2024
Pre-emptive pharmacogenetic testing in the acute hospital setting: a cross-sectional study.
Journal: QJM : monthly journal of the Association of Physicians
Published: August 13, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Journal: American journal of human genetics
Published: July 28, 2024
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 15, 2024
Beta-cell death and dysfunction drives hyperglycaemia in organ donors.
Journal: Diabetes, obesity & metabolism
Published: April 03, 2023
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.
Journal: Clinical dysmorphology
Published: December 12, 2022
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Journal: American journal of human genetics
Published: August 24, 2021
Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.
Journal: Reproductive biomedicine online
Published: April 23, 2021
Structural Requirements for Dihydrobenzoxazepinone Anthelmintics: Actions against Medically Important and Model Parasites: Trichuris muris, Brugia malayi, Heligmosomoides polygyrus, and Schistosoma mansoni.
Journal: ACS infectious diseases
Published: April 02, 2021
Morphological variability in the mucosal attachment site of Trichuris muris revealed by X-ray microcomputed tomography.
Journal: International journal for parasitology
Published: January 27, 2021
Correction to: Infantile fibrosarcoma with TPN3-NTRK3 fusion in a boy with Bloom Syndrome.
Journal: Familial cancer
Published: January 06, 2021
Last Updated: 09/26/2026