David Goudie
Publications by Year
Research Areas
BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Cancer Genomics and Diagnostics
Most-Cited Works
- → Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis(2006)2,920 cited
- → Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris(2006)1,026 cited
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability(2014)353 cited
- → CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy*(2001)324 cited
- → A general method for the detection of large CAG repeat expansions by fluorescent PCR.(1996)293 cited
- → The phenotypic spectrum of SCN8A encephalopathy(2015)283 cited
- → Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD(2018)246 cited
- → Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis(2006)237 cited
- → Mutations in the chromatin-associated protein ATRX(2008)184 cited