https://www.gosh.nhs.uk/patients-and-families/your-hospital-visit/whos-who/staff-z/dr-wendy-jones/
Dr Wendy Jones
Consultant at GOSH and an Honorary Associate Professor at University College London.
Dr Jones jointly leads the dysmorphology service at GOSH.
Consultant Clinical Geneticist for the North Thames Cleft Service.
Specialisms
Chromatin disorders including Wiedemann-Steiner syndrome, dysmorphology, genetic epilepsies and disorders associated with hypertrichosis, and genetics of non-syndromic and syndromic orofacial clefting disorders.
Qualifications
MBBS from University College London.
Clinical Genetics at St George’s Hospital, and Great Ormond Street Hospital for Children.
Dr Jones carried was awarded a PhD by the University of Cambridge.
Research Interests
Dr Jones researched Wiedemann-Steiner syndrome and disorders associated with hypertrichosis, and carried out core genomic analysis for the Deciphering Developmental Disorders Study, into the genetic cause of developmental disorders.
Key Publications
- Martin H.C., Jones W.D., McIntyre R., Sanchez-Andrade G. et al. Quantifying the contribution of recessive coding variation to developmental disorders. Science. 2018. 362:1161–1164.
- Mestek-Boukhibar L., Clement E., Jones W.D., Drury S., Ocaka L., Gagunashvili A., Le Quesne Stabej P., Bacchelli C., Jani N., Rahman S., Jenkins L., Hurst J.A., Bitner-Glindzicz M., Peters M., Beales P.L., Williams H.J. Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. Journal of Medical Genetics. 2018. 55:721–728
- Fitzgerald T.W.*, Gerety S.S.*, Jones W.D.*, van Kogelenberg M.* et al. The genetic architecture of severe, undiagnosed developmental disorders in 1,133 parent-offspring trios. Nature. 2015; 519; 223–228.