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List of works by Claire G Salter

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

scientific article published on 03 January 2017

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

scientific article published in November 2017

Delineating the expanding phenotype associated with SCAPER gene mutation

scientific article published on 13 June 2019

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature

article

Further defining the phenotypic spectrum of B4GALT7 mutations

scientific article published on 04 March 2016

Further delineation of Malan syndrome

scientific article published on 25 June 2018

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

scientific article published on 03 June 2019

How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? A mixed-methods study

scientific article published on 12 April 2017

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

scientific article

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.

scientific article

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