Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Genotyping Techniques  [Clear All Filters]
2020
Whitman, M. C. et al. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci 61, 22 (2020).
Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
2019
Fujinami, K. et al. Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. Br J Ophthalmol 103, 390-397 (2019).
2017
Posey, J. E. et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
2015
Ott, J., Wang, J. & Leal, S. M. Genetic linkage analysis in the age of whole-genome sequencing. Nat Rev Genet 16, 275-84 (2015).
Ansar, M. et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet 134, 941-50 (2015).
2014
Wang, G. T., Peng, B. & Leal, S. M. Variant association tools for quality control and analysis of large-scale sequence and genotyping array data. Am J Hum Genet 94, 770-83 (2014).