Items where authors include "FitzPatrick, DR"

Article

Aitken, S, Firth, HV, McRae, J et al. (280 more authors) (2019) Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105 (5). pp. 933-946. ISSN 0002-9297

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

Bengani, H, Handley, M orcid.org/0000-0001-7200-747X, Alvi, M et al. (31 more authors) (2017) Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in Medicine, 19 (8). pp. 900-908. ISSN 1098-3600

Taylor, RL, Handley, MT orcid.org/0000-0001-7200-747X, Waller, S et al. (12 more authors) (2017) Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. Investigative Ophthalmology & Visual Science, 58 (1). pp. 594-603. ISSN 0146-0404

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

McRae, JF, Clayton, S, Fitzgerald, TW et al. (298 more authors) (2016) Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study. bioRxiv. (Submitted)