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Doctor Claire Salter

Dr Claire Salter

NIHR Clinical Lecturer

Connect with Claire

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

ORCID
Publications Biography
Publications Biography

Publications

15 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
Mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis
Mustafa Y. Ahmed, Aisha Al-Khayat, Fathiya Al-Murshedi, Amna Al-Futaisi, Barry A. Chioza, J. Pedro Fernandez-Murray, Jay E. Self, Claire G. Salter, Gaurav V. Harlalka, Lettie E. Rawlins, Sana Al-Zuhaibi, Faisal Al-Azri, Fatma Al-Rashdi, Amaury Cazenave-Gassiot, Marcus R. Wenk, Fatema Al-Salmi, Michael A. Patton, David L. Silver, Emma L. Baple, Christopher R. McMaster & Andrew H. Crosby, 2017, Brain, 140(3), 547-554
DOI: 10.1093/brain/aww318
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