Rachel Flomen
UK Dementia Research Institute(GB)National Hospital for Neurology and Neurosurgery(GB)University College London(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, RNA regulation and disease, Autism Spectrum Disorder Research, Glycosylation and Glycoproteins Research
Most-Cited Works
- → Evidence that RNA editing modulates splice site selection in the 5-HT2C receptor gene(2004)109 cited
- → Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes(2007)97 cited
- → Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene(1993)81 cited
- → Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder(2006)78 cited
- → Detection of point mutations and a gross deletion in six Hunter Syndrome patients(1992)69 cited
- → Subcellular Localization And Formation Of Huntingtin Aggregates Correlates With Symptom Onset And Progression In A Huntington’S Disease Model(2020)66 cited