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, the genetics of hearing loss, Fragile X syndrome, skeletal dysplasias and prenatal diagnosis.


Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Barnicoat A et al.
November 2013

Autism, language and communication in children with sex chromosome trisomies.
Barnicoat A et al.
Epub 2010 Jul 23

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

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