Sally Davies
University Hospital of Wales(GB)Genomics (United Kingdom)(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genetic Syndromes and Imprinting, Genetic factors in colorectal cancer
Most-Cited Works
- → Imprinting in Albright's hereditary osteodystrophy.(1993)308 cited
- → NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes(2003)301 cited
- → Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders(2017)271 cited
- → How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum(2011)180 cited
- → Demonstration of somatic mutation and colonic crypt clonality by X-linked enzyme histochemistry(1988)170 cited
- → Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6(2015)126 cited
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