Shehla N. Mohammed
Guy's And St Thomas' NHS Trust
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 44 publications
XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.
Journal: The Journal of clinical investigation
Published: September 09, 2025
TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.
Journal: The Journal of clinical investigation
Published: May 23, 2025
Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome.
Journal: Frontiers in neuroscience
Published: December 31, 2024
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Journal: Genetics in medicine open
Published: November 14, 2023
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.
Journal: Neurology. Clinical practice
Published: September 27, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Journal: Science translational medicine
Published: May 31, 2023
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Journal: Brain : a journal of neurology
Published: February 21, 2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Journal: Pediatric neurology
Published: November 08, 2022
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Journal: Nature communications
Published: July 14, 2022
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
Journal: The New England journal of medicine
Published: November 10, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 05, 2021
Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder.
Journal: Stem cell research
Published: March 04, 2021
Last Updated: 09/26/2026