Research and publications from the Clinical Genetics Unit

The Clinical Genetics Unit works closely with the Molecular Medicine Unit and the Clinical and Molecular Genetics Unit at the Institute of Child Health in a number of areas of research and a number of the consultants have joint appointments with dedicated research time.


The department also work with researchers from across the UK and internationally to recruit to a wide variety of research studies relevant to the children and families seen in our clinics.

The principal focus of the research is the delineation of genetic disorders and the identification and clinical translation of their underlying causes. Particular areas of research expertise include clinical dysmorphology, the genetics of cleft lip and palate, Fragile X syndrome, skeletal dysplasias and prenatal diagnosis.

Great Ormond Street Hospital recruits to number of National Research studies.

  • 100,000 Genomes Project - recruitment to this project has now closed. 
  • DDD Study - recruitment to this project has now closed. 


Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty LS.
Genet Med. 2018 Nov;20(11): 1430-1437. doi: 10.1038/gim.2018.30. Epub 2018

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.

Quantifying the contribution of recessive coding variation to developmental disorders
Martin HC, Jones WD et al 
Science. 2018 November

Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study
Sanderson SC, Lewis C, Patch C,6, Hill M, Bitner-Glindzicz M, Chitty LS et al
Genet Med 2018. October

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
Mestek-Boukhibar L, Clement E, Jones WD et al
J Med Genet. 2018 July

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.
Scott RH et al.
Nat Genet. 2008;40(11):1329-34.

What is array CGH? Arch Dis Child Educ Pract Ed.
Tadros S, Morrogh D, Scott RH. 
2013 Aug;98(4):134-5