Carol-Anne Martin
Institute of Genetics and Cancer(GB)University of Edinburgh(GB)
Publications by Year
Research Areas
Microtubule and mitosis dynamics, Genetics and Neurodevelopmental Disorders, DNA Repair Mechanisms, Ubiquitin and proteasome pathways, Epigenetics and DNA Methylation
Most-Cited Works
- → Cerebral organoids model human brain development and microcephaly(2013)5,256 cited
- → cGAS surveillance of micronuclei links genome instability to innate immunity(2017)1,657 cited
- → Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling(2007)302 cited
- → Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome(2011)208 cited
- → Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy(2014)180 cited
- → Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions(2018)152 cited
- → Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis(2016)149 cited
- → TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism(2015)97 cited
- → Mutations in TOP3A Cause a Bloom Syndrome-like Disorder(2018)97 cited
- → Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy(2020)52 cited