Claire Salter
Clinical Research Fellow
C.Salter@exeter.ac.uk
Publications
Journal articles
Leslie J, Rawlins L, Chioza B, Olubodun O, Salter C, Fasham J, Jones H, Cross H, Lam S, Harlalka G, et al (In Press). MNS1 variant associated with situs inversus and male infertility. European Journal of Human Genetics, 1-18. Abstract.
Saettini F, Guerra F, Mauri M, Fazio G, Bugarin C, Quadri M, Rebellato S, Chinello C, Pagani L, Malighetti F, et al (2023). Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia. Blood, 142(Supplement 1).
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, et al (2022). TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain, 145(9), 3095-3107. Abstract. Author URL.
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, et al (2021). Biallelic PI4KA variants cause neurological, intestinal and immunological disease. Brain, 144(12), 3597-3610. Abstract. Author URL.
Rickman OJ, Salter CG, Gunning AC, Fasham J, Voutsina N, Leslie JS, McGavin L, Cross HE, Posey JE, Akdemir ZC, et al (2021). Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord, 82, 84-86. Abstract. Author URL.
Mulder PA, van Balkom IDC, Landlust AM, Priolo M, Menke LA, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, et al (2020). Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes. Journal of Intellectual Disability Research, 64(12), 956-969. Abstract.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, et al (2020). Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med, 22(3), 524-537. Abstract. Author URL.
Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, et al (2019). Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A, 179(8), 1665-1671. Author URL.
Jeffries AR, Maroofian R, Salter CG, Chioza BA, Cross HE, Patton MA, Dempster E, Temple IK, Mackay DJG, Rezwan FI, et al (2019). Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. Genome Res, 29(7), 1057-1066. Abstract. Author URL.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, et al (2018). Further delineation of Malan syndrome. Hum Mutat, 39(9), 1226-1237. Abstract. Author URL.
Salter CG, Beijer D, Hardy H, Barwick KES, Bower M, Mademan I, De Jonghe P, Deconinck T, Russell MA, McEntagart MM, et al (2018). Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. Neurol Genet, 4(2). Abstract. Author URL.
Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, et al (2017). A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140(3), 547-554. Abstract. Author URL.
Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, et al (2017). Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain, 140(11), 2838-2850. Abstract. Author URL.
Dheensa S, Crawford G, Salter C, Parker M, Fenwick A, Lucassen A (2017). How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? a mixed-methods study. Familial Cancer, 17(1), 155-166.
Muggenthaler MMA, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, et al (2017). Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet, 13(1). Abstract. Author URL.
Salter CG, Baralle D, Collinson MN, Self JE (2016). 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. American Journal of Medical Genetics Part A, 170(4), 1017-1022.
Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D, Study D, Foulds N (2016). Further defining the phenotypic spectrum of B4GALT7 mutations. American Journal of Medical Genetics Part A, 170(6), 1556-1563.
Moon R, Salter C, Foulds N, Davies J (2015). Galactosyltransferase-1 deficiency: a novel cause of bone fragility due to impaired proteoglycan synthesis. Bone Abstracts
Saboo AR, Sharma A, Salter C, Edelman J (2014). ABSTRACT 270. Pediatric Critical Care Medicine, 15(4_suppl).
Saboo A, Sharma A, Edelman J, Salter C (2014). G210(P) Umbilical Venous Catheters in Neonates ‘Not as Safe as We Might Think’. Archives of Disease in Childhood, 99(Suppl 1).
Saboo A, Sharma A, Edelman J, Salter C (2014). PC.112 Umbilical venous catheter extravasation-A retrospective study and quality improvement programme. Archives of Disease in Childhood - Fetal and Neonatal Edition, 99(Suppl 1).
