Catherine Breen
St Mary's Hospital
Manchester, ENG, United Kingdom
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 20 publications
Co-development of a genetic care pathway for ALS: real-world perspectives from the North of England.
Co-development of a genetic care pathway for ALS: real-world perspectives from the North of England.
Journal: Orphanet journal of rare diseases
Published: February 05, 2026
Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome.
Journal: Circulation. Genomic and precision medicine
Published: November 12, 2025
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
Journal: EMBO molecular medicine
Published: April 08, 2021
High dose genistein in Sanfilippo syndrome: A randomised controlled trial.
Journal: Journal of inherited metabolic disease
Published: February 09, 2021
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Journal: Neuromuscular disorders : NMD
Published: December 04, 2019
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Journal: The Journal of clinical investigation
Published: June 18, 2019
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
Journal: American journal of medical genetics. Part A
Published: January 17, 2019
Atypical late presentation of BPAN in a male: A case report.
Journal: Parkinsonism & related disorders
Published: March 18, 2018
Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
Journal: Nature genetics
Published: May 27, 2017
Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.
Journal: Human genome variation
Published: June 27, 2016
A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA.
Journal: Molecular genetics and metabolism
Published: May 09, 2016
Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.
Journal: The Journal of bone and joint surgery. American volume
Published: March 04, 2016
Last Updated: 09/26/2026