Ana C Onuchic-Whitford
Overview
Explore the profile of Ana C Onuchic-Whitford including associated specialties, affiliations and a list of published articles.
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Articles
14
Citations
116
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Recent Articles
11.
Schneider R, Deutsch K, Hoeprich G, Marquez J, Hermle T, Braun D, et al.
Am J Hum Genet
. 2020 Nov;
107(6):1113-1128.
PMID: 33232676
The discovery of >60 monogenic causes of nephrotic syndrome (NS) has revealed a central role for the actin regulators RhoA/Rac1/Cdc42 and their effectors, including the formin INF2. By whole-exome sequencing...
12.
Klambt V, Werth M, Onuchic-Whitford A, Getwan M, Kitzler T, Buerger F, et al.
Nephrol Dial Transplant
. 2020 Oct;
36(2):237-246.
PMID: 33097957
Background: An underlying monogenic cause of early-onset chronic kidney disease (CKD) can be detected in ∼20% of individuals. For many etiologies of CKD manifesting before 25 years of age, >200...
13.
Connaughton D, Dai R, Owen D, Marquez J, Mann N, Graham-Paquin A, et al.
Am J Hum Genet
. 2020 Sep;
107(4):727-742.
PMID: 32891193
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first...
14.
Kampf L, Schneider R, Gerstner L, Thunauer R, Chen M, Helmstadter M, et al.
J Am Soc Nephrol
. 2019 Nov;
30(12):2338-2353.
PMID: 31732614
Background: Mutations in about 50 genes have been identified as monogenic causes of nephrotic syndrome, a frequent cause of CKD. These genes delineated the pathogenetic pathways and rendered significant insight...