Research and publications from the Clinical Genetics Unit

The Clinical Genetics Unit works closely with the GOSH Institute of Child Health and the NIHR GOSH Biomedical Research Centre (BRC) in a number of areas of research. A number of our Consultants have joint university appointments and are active in research.


The department also works 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, neurogenetics, skeletal dysplasia and prenatal diagnosis.

Great Ormond Street Hospital recruited large numbers of patients and families to two ground breaking UK genetic studies:

Click on the links above to find out more about these studies and the resulting breakthroughs in clinical genetics

Selected Publications

Have a look below at some of the recent research our team have been involved with:

Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.

Lee S, Menzies L, Hay E, Ochoa E, Docquier F, Rodger F, Deshpande C, Foulds NC, Jacquemont S, Jizi K, Kiep H, Kraus A, Löhner K, Morrison PJ, Popp B, Richardson R, Haeringen A, Martin E, Toribio A, Li F, Jones WD, Sansbury FH, Maher ER.Hum Mol Genet. 2023 May 11:ddad079. doi: 10.1093/hmg/ddad079. Online ahead of print.PMID: 37166351

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium.BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288.PMID: 34732400

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA.Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225.PMID: 36067010

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Bernkopf M, Abdullah UB, Bush SJ, Wood KA, Ghaffari S, Giannoulatou E, Koelling N, Maher GJ, Thibaut LM, Williams J, Blair EM, Kelly FB, Bloss A, Burkitt-Wright E, Canham N, Deng AT, Dixit A, Eason J, Elmslie F, Gardham A, Hay E, Holder M, Homfray T, Hurst JA, Johnson D, Jones WD, Kini U, Kivuva E, Kumar A, Lees MM, Leitch HG, Morton JEV, Németh AH, Ramachandrappa S, Saunders K, Shears DJ, Side L, Splitt M, Stewart A, Stewart H, Suri M, Clouston P, Davies RW, Wilkie AOM, Goriely A.Nat Commun. 2023 Feb 15;14(1):853. doi: 10.1038/s41467-023-36606-w.PMID: 36792598

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.