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List of works by Sarah Bowdin

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

scientific article

PhenoTips: Patient Phenotyping Software for Clinical and Research Use ⬇️

scientific article published on May 24, 2013

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) – A case report and review of congenital heart defects reported in the human ciliopathies ⬇️

scientific article published on 03 August 2012

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

scientific article

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