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Alysia Lovgren

Explore the profile of Alysia Lovgren including associated specialties, affiliations and a list of published articles. Areas
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Articles 5
Citations 72
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Recent Articles
1.
Wojcik M, Lemire G, Berger E, Zaki M, Wissmann M, Win W, et al.
N Engl J Med . 2024 Jun; 390(21):1985-1997. PMID: 38838312
Background: Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative evaluation, remains...
2.
Wojcik M, Lemire G, Zaki M, Wissman M, Win W, White S, et al.
medRxiv . 2024 Feb; PMID: 38328047
Background: Causal variants underlying rare disorders may remain elusive even after expansive gene panels or exome sequencing (ES). Clinicians and researchers may then turn to genome sequencing (GS), though the...
3.
Kipkemoi P, Kim H, Christ B, OHeir E, Allen J, Austin-Tse C, et al.
Neuron . 2023 Jul; 111(18):2800-2810.e5. PMID: 37463579
Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims...
4.
Pais L, Snow H, Weisburd B, Zhang S, Baxter S, DiTroia S, et al.
Hum Mutat . 2022 Mar; 43(6):698-707. PMID: 35266241
Exome and genome sequencing have become the tools of choice for rare disease diagnosis, leading to large amounts of data available for analyses. To identify causal variants in these datasets,...
5.
Cloney T, Gallacher L, Pais L, Tan N, Yeung A, Stark Z, et al.
J Med Genet . 2021 Nov; 59(8):748-758. PMID: 34740920
Background: Clinical exome sequencing typically achieves diagnostic yields of 30%-57.5% in individuals with monogenic rare diseases. Undiagnosed diseases programmes implement strategies to improve diagnostic outcomes for these individuals. Aim: We...