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Rivas, MA, Koskela, J, Huang, H, Stevens, C, Avila, BE, Haritunians, T, Neale, BM, Kurki, M, Ganna, A, Graham, D, et al.
Insights into the genetic epidemiology of Crohn’s and rare diseases in the Ashkenazi Jewish population.
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Tukiainen, T, Villani, A-C, Yen, A, Rivas, MA, Marshall, JL, Satija, R, Aguirre, M, Gauthier, L, Fleharty, M, Kirby, A, et al.
Landscape of X chromosome inactivation across human tissues.
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Kosmicki, JA, Samocha, KE, Howrigan, DP, Sanders, SJ, Slowikowski, K, Lek, M, Karczewski, KJ, Cutler, DJ, Devlin, B, Roeder, K, et al.
Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples.
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Rivas, M, Graham, D, Sulem, P, Stevens, C, Desch, A, Goyette, P, Gudbjartsson, D, Jonsdottir, I, Thorsteinsdottir, U, Degenhardt, F, et al.
A protein truncating R179X variant in RNF186 confers protection against ulcerative colitis.
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Karczewski, KJ, Weisburd, B, Thomas, B, Ruderfer, DM, Kavanagh, D, Hamamsy, T, Lek, M, Samocha, KE, Cummings, BB, Birnbaum, D, et al.
The ExAC Browser: Displaying reference data information from over 60,000 exomes.
2024
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