-
Huth, EA, Zhao, X, Owen, N, Luna, PN, Vogel, I, Dorf, ILH, Joss, S, Clayton-Smith, J, Parker, MJ, Louw, JJ, et al.
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return..
Eur J Hum Genet
31(12)
:
1430 -1439
2023
view publication
-
Lemire, G, Sanchis-Juan, A, Russell, K, Baxter, S, Chao, KR, Singer-Berk, M, Groopman, E, Wong, I, England, E, Goodrich, J, et al.
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease..
medRxiv
2023
view publication
-
Tooze, RS, Miller, KA, Swagemakers, SMA, Calpena, E, McGowan, SJ, Boute, O, Collet, C, Johnson, D, Laffargue, F, de Leeuw, N, et al.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance..
Genet Med
25(9)
:
100883
2023
view publication
-
Wojcik, MH, Lemire, G, Zaki, MS, Wissman, M, Win, W, White, S, Weisburd, B, Waddell, LB, Verboon, JM, VanNoy, GE, et al.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis..
2023
view publication
-
Lunke, S, Bouffler, SE, Patel, CV, Sandaradura, SA, Wilson, M, Pinner, J, Hunter, MF, Barnett, CP, Wallis, M, Kamien, B, et al.
Integrated multi-omics for rapid rare disease diagnosis on a national scale..
Nat Med
29(7)
:
1681 -1691
2023
view publication