John Dean
University of Aberdeen(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Connective tissue disorders research, Freshwater macroinvertebrate diversity and ecology
Most-Cited Works
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → Characteristics of fetal anticonvulsant syndrome associated autistic disorder(2005)451 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome(2007)406 cited
- → Marfan syndrome: clinical diagnosis and management(2007)329 cited
- → ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency(2007)327 cited
- → Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study