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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

14 publications
Page 1 of 2
Challenges in genomic variant interpretation within Pakistani populations due to genomic healthcare inequalities
Zantasha Khalid, Matthew Adams, Anees Muhammad & Claire Salter, 2025, American journal of medical genetics. Part A, 197(12)
DOI: 10.1002/ajmg.a.64191Digital Object Identifier (DOI)
Type: article
Delineating biallelic PI4KA variants as a cause of a complex neurological, gastrointestinal and immunological syndromic disorder
Claire Salter, 2025
Type: thesis
Biallelic PI4KA mutations disrupt B-cell metabolism and cause B-Cell lymphopenia and hypogammaglobulinemia
Francesco Saettini, Fabiola Guerra, Mario Mauri & Claire G. Salter, 2024, Journal of Clinical Immunology, 45
DOI: 10.1007/s10875-024-01793-8
Type: article
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia
Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian & Claire G. Salter, 2022, Brain, 145(9), 3095-3107
DOI: 10.1093/brain/awac123
Type: article
PI4KA-related disorder
E.L. Baple, C Salter, H Uhlig, N.I. Wolf & A.H. Crosby, 2022
Type: other
Biallelic PI4KA variants cause neurological, intestinal and immunological disease
Claire G. Salter, Yiying Cai & Bernice Lo, 2021, Brain, 144(12), 3597-3610
DOI: 10.1093/brain/awab313
Type: article
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform
Olivia J. Rickman, Claire Salter, Adam Gunning, James Fasham, Nikol Voutsina, Joseph S Leslie & et al, 2020, Parkinsonism & Related Disorders, 82, 84-86
DOI: 10.1016/j.parkreldis.2020.10.041
Type: article
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick Blackburn, Claire Salter & et al, 2019, Genetics in Medicine, 22(3), 524-537
DOI: 10.1038/s41436-019-0657-0
Type: article
MNS1 variant associated with situs inversus and male infertility
Joseph S Leslie, Lettie E. Rawlins, Barry A Chioza, Oluwaseun R. Olubodon, Claire Salter, James Fasham, Hannah Jones, Harold E. Cross, Simon Lam, V. Gaurav Harlalka, Martina M.A. Muggenthaler, Andrew H. Crosby & Emma L. Baple, 2019, European Journal of Human Genetics, 28, 50-55
DOI: 10.1038/s41431-019-0489-z
Type: article
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
Aaron R. Jeffries, Reza Maroofian, Claire Salter, Barry A. Chioza, Harold E. Cross, Michael A. Patton, Emma Dempster, I. Karen Temple, Deborah Mackay, Faisal I. Rezwan, Lise Aksglaede, Diana Baralle, Tabib Dabir, Matthew Frank Hunter, Arveen Kamath, Ajith Kumar, Ruth Newbury-Ecob, Angelo Selicorni, Amanda Springer, Lionel van Maldergem, Vinod Varghese, Naomi Yachelevich, Katrina Tatton-Brown, Jonathan Mill, Andrew H. Crosby & Emma Baple, 2019, Genome Research, 29(7), 1057-1066
DOI: 10.1101/gr.243584.118
Type: article