2020 - Fellow of the Royal Society, United Kingdom
2014 - Fellow of the Royal Society of Edinburgh
Many of his studies on Genetics involve topics that are commonly interrelated, such as Microcephaly. His study brings together the fields of Genetics and Microcephaly. His work often combines Gene and Consanguinity studies. His Locus (genetics) study frequently intersects with other fields, such as Chromosomal region. His study brings together the fields of Locus (genetics) and Chromosomal region. While working on this project, he studies both Phenotype and Genetic counseling. He undertakes interdisciplinary study in the fields of Genetic counseling and Phenotype through his works. Many of his studies on Population involve topics that are commonly interrelated, such as Environmental health. Many of his studies on Environmental health apply to Population as well.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Cerebral organoids model human brain development and microcephaly
Madeline A. Lancaster;Magdalena Renner;Carol Anne Martin;Daniel Wenzel.
cGAS surveillance of micronuclei links genome instability to innate immunity
Karen J. MacKenzie;Paula Carroll;Carol Anne Martin;Olga Murina.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer.
Nucleic Acids Research (2014)
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Yanick J Crow;Yanick J Crow;Bruce E Hayward;Rekha Parmar;Peter Robins.
Nature Genetics (2006)
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Yanick J Crow;Yanick J Crow;Andrea Leitch;Bruce E Hayward;Anna Garner.
Nature Genetics (2006)
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
Andrew R.J. Curtis;Constanze Fey;Christopher M Morris;Laurence A. Bindoff.
Nature Genetics (2001)
Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain
Andrew P. Jackson;Andrew P. Jackson;Helen Eastwood;Sandra M. Bell;Jimi Adu.
American Journal of Human Genetics (2002)
Enzymatic removal of ribonucleotides from DNA is essential for Mammalian genome integrity and development
Martin A.M. Reijns;Björn Rabe;Rachel E. Rigby;Pleasantine Mill.
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor.
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
Elen Griffith;Sarah Walker;Carol-Anne Martin;Paola Vagnarelli.
Nature Genetics (2008)
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