Publications

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Filters: Author is Collins, Ryan L and First Letter Of Title is S  [Clear All Filters]
2020
Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
2017
Shaw, N. D. et al. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 49, 238-248 (2017).