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Sarah Smithson | Researchclopedia

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Sarah Smithson

4

Works

79

Citations

3

h-index

1

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Genomics and Chromatin Dynamics

Affiliations

University Hospitals Bristol NHS Foundation Trust2019–2019

Newcastle upon Tyne Hospitals NHS Foundation Trust2019–2019

Centre for Life2019–2019

Bristol Hospital2014–2014

St Michael's Hospital2019–2019

Top Works

Further delineation of the KAT6B molecular and phenotypic spectrum

DDD study,Tamsin Gannon,et al.

201464 citations

Wnt/β-catenin signaling in development and cancer

Genomic variations and chromosomal abnormalities

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Lauren Jeffries,Emily K. Mis,et al.

20239 citations

Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism

Maya Chopra,Meriel McEntagart,et al.

20216 citations