Shehla Mohammed
Guy's Hospital(GB)Guy's and St Thomas' NHS Foundation Trust(GB)Xerox (France)(FR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, DNA Repair Mechanisms, Genomic variations and chromosomal abnormalities, RNA regulation and disease, Prenatal Screening and Diagnostics
Most-Cited Works
- → Mutation of the RAD51C gene in a Fanconi anemia–like disorder(2010)403 cited
- → Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy(2012)279 cited
- → Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis(2013)197 cited
- → Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect(2016)189 cited
- → RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes(2017)164 cited
- → Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation(2006)148 cited
- → EPG5 -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy