Publications

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Author Title [ Year(Desc)]
Filters: Keyword is Reproducibility of Results  [Clear All Filters]
2012
Bernier, F. P. et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 90, 925-33 (2012).
2013
Boone, P. M. et al. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15, 45-54 (2013).
2015
Fairfield, H. et al. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res 25, 948-57 (2015).
Wheway, G. et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).
2016
Strauss, R. W. et al. Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography. Br J Ophthalmol 100, 956-962 (2016).
Strauss, R. W. et al. Comparison of Short-Wavelength Reduced-Illuminance and Conventional Autofluorescence Imaging in Stargardt Macular Dystrophy. Am J Ophthalmol 168, 269-278 (2016).
Spier, I. et al. Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Fam Cancer 15, 281-8 (2016).
Staples, J. et al. PADRE: Pedigree-Aware Distant-Relationship Estimation. Am J Hum Genet 99, 154-62 (2016).
2017
Gambin, T. et al. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 45, 1633-1648 (2017).
2018
Sadedin, S. P., Ellis, J. A., Masters, S. L. & Oshlack, A. Ximmer: a system for improving accuracy and consistency of CNV calling from exome data. Gigascience 7, (2018).
2020
Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).