Dr Claire Salter

NIHR Clinical Lecturer

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Email: C.G.Salter@soton.ac.uk

ORCID

Publications

14 publications

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Further delineation of Malan syndrome

Manuela Priolo, Denny Schanze, Katrin Tatton-Brown & Claire Salter, 2018, Human Mutation, 39(9), 1226–1237

DOI: 10.1002/humu.23563

Type: article

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

Claire G. Salter, Danique Beijer & Holly Hardy, 2018, Neurology. Genetics, 4(2)

DOI: 10.1212/NXG.0000000000000222

Type: article

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

Haicui Wang, Claire G. Salter, Osama Refai, Holly Hardy, Ugur Akpulat, Malin Kvarnung, Barry A. Chioza, Gaurav Harlalka, Fulya Taylan & Thomas Sejersen, 2017, Brain, 140(11), 2838-2850

DOI: 10.1093/brain/awx249

Type: article

Mutations in HYAL2, encoding hyaluronidase 2, cause a syndrome of orofacial clefting and cor triatriatum sinister in humans and mice

Martina M.A. Muggenthaler, Biswajit Chowdhury, S. Naimul Hasan, Harold E. Cross, Brian Mark & Claire Salter, 2017, PLoS Genetics, 13(1)

DOI: 10.1371/journal.pgen.1006470

Type: article

Dr Claire Salter

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