https://www.gosh.nhs.uk/patients-and-families/your-hospital-visit/whos-who/staff-z/dr-louise-wilson/
Dr Louise Wilson
Dr Wilson is a Clinical Genetics at Great Ormond Street since 1997. .
Specialisms
She has an interest in the genetics of craniofacial disorders and provides clinical genetics for the GOSH highly specialised craniosynostosis service.
Qualifications
Medical degree from University of Manchester including BSc in Biochemistry.
Diploma in Clinical Genetics from Institute of Child Health and University College.
MRC Training Fellowship in genetics from Institute of Child Health and University of Leicester.
Research Interests
Rare paediatric disorders in particular the genetic aspects of pseudohypoparathyroidism and other GNAS-related disorders, calcium and other endocrine disorders, acrodysostosis, and skeletal dysplasias.
Key Publications
- Obesity-associated GNAS mutations disrupt the melanocortin pathway. Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosiński J, Jyothish D, Lim, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAulay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS. N Engl J Med 2021
- ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM, Wilson LC. Am J Med Genet A. 2019 Apr;179(4):615-627. Epub 2019 Feb 13.PMID:30758909
- Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report. Brittain HK, Feary J, Rosenthal M, Spoudeas H; Deciphering Developmental Disorders (DDD) Study, Wilson LC. Am J Med Genet A. 2019 Jul;179(7):1346-1350. Epub 2019 May 15. PMID:31091003