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Article

Handley, MT orcid.org/0000-0001-7200-747X, Reddy, K, Wills, J et al. (18 more authors) (2019) ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. PLOS GENETICS, 15 (3). ARTN e1007605. ISSN 1553-7390

Blok, LS, Rousseau, J, Twist, J et al. (376 more authors) (2019) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). Nature Communications, 10. 883. ISSN 2041-1723

McRae, JF, Clayton, S, Fitzgerald, TW et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542. pp. 433-438. ISSN 0028-0836

Carss, KJ, Arno, G, Erwood, M et al. (35 more authors) (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics, 100 (1). pp. 75-90. ISSN 0002-9297

This list was generated on Sun Aug 18 06:45:37 2019 BST.