Moira Crosier
Newcastle University(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, DNA Repair Mechanisms, RNA Research and Splicing, Congenital heart defects research
Most-Cited Works
- → DNA sequence and analysis of human chromosome 9(2004)654 cited
- → Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos(2018)244 cited
- → Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome(2008)176 cited
- → The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis(2011)162 cited
- → A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly(2009)142 cited
- → Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome(2009)107 cited
- → The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development(2009)93 cited
- → The Tissue-Specific RNA Binding Protein T-STAR Controls Regional Splicing Patterns of Neurexin Pre-mRNAs in the Brain(2013)85 cited
- → Abnormal retinal development associated with FRMD7 mutations(2014)82 cited
- → The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus(2011)79 cited