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Sarah Bowdin | Researchclopedia

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Sarah Bowdin

University of Cambridge ORCID

72

Works

5,290

Citations

33

h-index

48

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Cancer Genomics and Diagnostics

Affiliations

Children's Hospital of Philadelphia2023–2023

Canadian Cancer Society2013–2013

University of Toronto2012–2018

University of Cambridge2025–2025

Hospital for Sick Children2009–2025

Top Works

Loeys–Dietz syndrome: a primer for diagnosis and management

Gretchen MacCarrick,James H. Black,et al.

2014567 citations

Congenital heart defects research

Genetics and Neurodevelopmental Disorders

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel,Gregory Costain,et al.

2017560 citations

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos,Daniele Merico,et al.

2016375 citations

Reappraisal of Reported Genes for Sudden Arrhythmic Death

S. Mohsen Hosseini,Raymond H. Kim,et al.

2018363 citations

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

Wendy N. Cooper,Anita Luharia,et al.

2005303 citations

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

Derek H.K. Lim,Sarah Bowdin,et al.

2008274 citations

Assisted reproductive therapies and imprinting disorders—a preliminary British survey

Alastair Sutcliffe,Catherine Peters,et al.

2005256 citations

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Marta Gîrdea,Sergiu Dumitriu,et al.

2013254 citations

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

NIHR BioResource—Rare Disease,Courtney E. French,et al.

2019249 citations