Publications

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Author Title [ Year(Asc)]
Filters: Author is MacArthur, Daniel G  [Clear All Filters]
2020
Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
2019
Mohammadi, P. et al. Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science 366, 351-356 (2019).
Posey, J. E. et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Bryen, S. J. et al. Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly. Am J Hum Genet 105, 573-587 (2019).