https://www.gosh.nhs.uk/wards-and-departments/departments/clinical-specialties/clinical-genetics-information-parents-and-visitors/meet-clinical-genetics-team/wendy-jones/

Dr Wendy Jones

This is a photo of Dr Wendy Jones

Consultant in Clinical Genetics and Genomic Medicine

Dr Jones is a consultant at Great Ormond Street Hospital and an Honorary Associate Professor at University College London (Institute of Child Health). Dr Jones has a specialist interest in chromatin disorders including Wiedemann-Steiner syndrome, dysmorphology, genetic epilepsies and disorders associated with hypertrichosis. Dr Jones jointly leads the dysmorphology service at Great Ormond Street hospital, as well as being a core member of the genetics ward team, reviewing inpatients with possible genetic disorders. Dr Jones also has a specialist interest in the genetics of non-syndromic and syndromic orofacial clefting disorders, and she is the Consultant Clinical Geneticist for the North Thames Cleft Service. She also works with the paediatric epilepsy and neurodisability team to run a neurodevelopmental epilepsy genomics clinic.

Dr Jones jointly chairs the UK National Dysmorphology Meeting and the UK National Epilepsy Genetics Meeting.

Dr Jones received her MBBS from University College London. After completing core medical training in London, she undertook training in Clinical Genetics at St George’s Hospital, and Great Ormond Street Hospital for Children both in London.

During her clinical genetics training, Dr Jones carried was awarded a PhD by the University of Cambridge. Based at the Wellcome Trust Sanger Institute, she researched into Wiedemann-Steiner syndrome and disorders associated with hypertrichosis. In addition, Dr Jones carried out some of the core genomic analysis for the Deciphering Developmental Disorders Study, a ground breaking UK wide study into the genetic cause of developmental disorders.

Specialisms

Areas of Special Interest: Chromatin disorders including Wiedemann-Steiner syndrome, disorders associated with hypertrichosis, clefting disorders, paediatric dysmorphology

Research interests: Wiedemann-Steiner syndrome, chromatin disorders, paediatric dysmorphology

Selected 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.
  • Wright C.F., Fitzgerald T.W., Jones W.D., Clayton S. et al. Deciphering Developmental Disorders: Clinical Genome Sequencing Implemented in a Large-Scale Rare-Disease Research Study. The Lancet; 2015; 385:1305–1314.
  • Jones W.D*., Dafou D., McEntagart M., Woollard W.J., Emslie F.V., Holder-Espinasse M., Irving M., Saggar A.K., Smithson S., Trembath R.C., Deshpande C. & Simpson M.A. De novo mutations in MLL cause Wiedemann-Steiner syndrome. Am J Hum Genet. 2012 Aug 10;91(2):358–64.