Doctor Claire Salter

Dr Claire Salter

NIHR Clinical Lecturer

Connect with Claire

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

ORCID

Publications

16 publications

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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

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

Zain Dardas, Laura Harrold, Daniel G. Calame & Claire G. Salter, 2025, American Journal of Human Genetics, 112(5), 1139-1157

DOI: 10.1016/j.ajhg.2025.03.018

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