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List of works by Sara Fitzgerald-Butt

Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve

scientific article

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events

scientific article

Clinical exome sequencing reports: current informatics practice and future opportunities

scientific article published on 23 May 2017

Measuring genetic knowledge: a brief survey instrument for adolescents and adults

scientific article published on 29 May 2015

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

scientific article published on 26 May 2020

Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve

scientific article published on 5 May 2014

Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors

scientific article published on 18 September 2019

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

scientific article published on 01 April 2019

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

scientific article

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.

scientific article published on 14 July 2016

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