-
Lowther, C, Valkanas, E, Giordano, JL, Wang, HZ, Currall, BB, O'Keefe, K, Pierce-Hoffman, E, Kurtas, NE, Whelan, CW, Hao, SP, et al.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
American Journal of Human Genetics
110(9)
:
1454 -1469
2023
view publication
-
Singer-Berk, M, Gudmundsson, S, Baxter, S, Seaby, EG, England, E, Wood, JC, Son, RG, Watts, NA, Karczewski, KJ, Harrison, SM, et al.
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
American Journal of Human Genetics
110(9)
:
1496 -1508
2023
view publication
-
McGurk, KA, Zhang, X, Theotokis, P, Thomson, K, Harper, A, Buchan, RJ, Mazaika, E, Ormondroyd, E, Wright, WT, Macaya, D, et al.
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
American Journal of Human Genetics
110(9)
:
1482 -1495
2023
view publication
-
Cuomo, ASE, Nathan, A, Raychaudhuri, S, MacArthur, DG, Powell, JE.
Single-cell genomics meets human genetics.
Nature Reviews Genetics
24(8)
:
535 -549
2023
view publication
-
Atkinson, EG, Artomov, M, Loboda, AA, Rehm, HL, MacArthur, DG, Karczewski, KJ, Neale, BM, Daly, MJ.
Discordant calls across genotype discovery approaches elucidate variants with systematic errors.
Genome Research
33(6)
:
999 -1005
2023
view publication