Christopher J. Kershaw
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 27 publications
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 27, 2025
Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma.
Journal: Clinical genetics
Published: December 23, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Journal: Brain : a journal of neurology
Published: May 16, 2024
Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.
Journal: BMC medical genomics
Published: March 04, 2024
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Journal: Molecular genetics and metabolism
Published: December 13, 2023
Translation factor and RNA binding protein mRNA interactomes support broader RNA regulons for posttranscriptional control.
Journal: The Journal of biological chemistry
Published: July 07, 2023
Interaction of the La-related protein Slf1 with colliding ribosomes maintains translation of oxidative-stress responsive mRNAs.
Journal: Nucleic acids research
Published: July 22, 2022
Integrated multi-omics reveals common properties underlying stress granule and P-body formation.
Journal: RNA biology
Published: October 21, 2021
GTP binding to translation factor eIF2B stimulates its guanine nucleotide exchange activity.
Journal: iScience
Published: September 03, 2021
Last Updated: 09/26/2026