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Below are the current subdomains for this domain.


Foetal Medicine

Growth and Endocrine

Imprinting Disorders

Ciliopathy Disorders

Developmental and Orphan Disorders


1. de Wit MC, Srebniak MI, Govaerts LC, Van Opstal D, Galjaard RJ, Go AT. Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature. Ultrasound Obstet Gynecol. 2014 Feb;43(2):139-46.

2. Baker, K. and P.L. Beales, Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet, 2009. 151C(4): p. 281-95.

3. Travaglini, L., et al., Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A, 2009. 149A(10): p. 2173-80.

4. Badano, J.L., et al., Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature, 2006. 439(7074): p. 326-30.

5. Davis, E.E., et al., TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet, 2011. 43(3): p. 189-96.

6. Schmidts, M., et al., TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun, 2015. 6: p. 7074.

Research plan

Full details of the research proposed by this domain

Paediatrics detailed research plan
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