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List of works by Xin Cynthia Ye

CuboCube: Student creation of a cancer genetics e-textbook using open-access software for social learning.

scientific article

Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies

scientific article published on 15 February 2019

Detecting somatic mosaicism: considerations and clinical implications.

scientific article published on 07 October 2014

Exome Sequencing and the Management of Neurometabolic Disorders.

scientific article published on 25 May 2016

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities

scientific article published on 30 November 2014

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

scientific article published on 22 December 2015

Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers

scientific article (publication date: 6 August 2013)

Strabismus genetics across a spectrum of eye misalignment disorders

scientific article

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