Kimberly Ezell
Overview
Explore the profile of Kimberly Ezell including associated specialties, affiliations and a list of published articles.
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4
Citations
7
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Recent Articles
1.
Chen Y, Dawes R, Kim H, Ljungdahl A, Stenton S, Walker S, et al.
Nature
. 2024 Jul;
632(8026):832-840.
PMID: 38991538
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in...
2.
Chen Y, Dawes R, Kim H, Stenton S, Walker S, Ljungdahl A, et al.
medRxiv
. 2024 Apr;
PMID: 38645094
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses...
3.
Tinker R, Bastarache L, Ezell K, Neumann S, Furuta Y, Morgan K, et al.
Am J Med Genet A
. 2024 Jan;
194(5):e63527.
PMID: 38229216
Disease specific cohort studies have reported details on X linked (XL) disorders affecting females. We investigated the spectrum and penetrance of XL disorders seen in electronic health records (EHR). We...
4.
Tinker R, Bastarache L, Ezell K, Kobren S, Esteves C, Rosenfeld J, et al.
Am J Med Genet A
. 2023 May;
191(10):2482-2492.
PMID: 37246601
The contribution of mosaicism to diagnosed genetic disease and presumed de novo variants (DNV) is under investigated. We determined the contribution of mosaic genetic disease (MGD) and diagnosed parental mosaicism...