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Sally Davies | Researchclopedia

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Sally Davies

University Hospital of Wales

49

Works

3,318

Citations

29

h-index

37

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

Affiliations

Glan Clwyd Hospital2016–2019

University of South Wales2021–2021

Cardiff and Vale University Health Board2005–2014

University of Helsinki1999–1999

Inserm1998–1998

Top Works

Imprinting in Albright's hereditary osteodystrophy.

Sally Davies,Helen E. Hughes

1993308 citations

Genetic Syndromes and Imprinting

Genetic factors in colorectal cancer

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Jenny Douglas,Sandra Hanks,et al.

2003301 citations

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faúndes,William G. Newman,et al.

2017272 citations

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Siddharth Banka,Ratna Veeramachaneni,et al.

2011180 citations

Demonstration of somatic mutation and colonic crypt clonality by X-linked enzyme histochemistry

David F. Griffiths,Sally Davies,et al.

1988170 citations

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ilham Ratbi,Kim D. Falkenberg,et al.

2015126 citations

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

David S. Millar,Mark Lewis,et al.

2003114 citations

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

Katrina Tatton‐Brown,Jenny Douglas,et al.

2005102 citations

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

Sylviane Olschwang,David Markie,et al.

1998101 citations