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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14
Citations
116
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Recent Articles
1.
Schneider R, Shril S, Buerger F, Deutsch K, Yousef K, Frank C, et al.
Genes Dis
. 2024 Nov;
12(2):101280.
PMID: 39584075
No abstract available.
2.
Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics
Daga A, Morales A, Shril S, Benoit E, Pantel D, Aguilar-Gonzalez A, et al.
Kidney Med
. 2024 Nov;
6(12):100910.
PMID: 39574791
No abstract available.
3.
Han S, McNulty M, Benway C, Wen P, Greenberg A, Onuchic-Whitford A, et al.
Nat Commun
. 2023 Apr;
14(1):2229.
PMID: 37076491
Expression quantitative trait locus (eQTL) studies illuminate genomic variants that regulate specific genes and contribute to fine-mapped loci discovered via genome-wide association studies (GWAS). Efforts to maximize their accuracy are...
4.
Klambt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, et al.
J Am Soc Nephrol
. 2022 Nov;
34(2):273-290.
PMID: 36414417
Background: About 40 disease genes have been described to date for isolated CAKUT, the most common cause of childhood CKD. However, these genes account for only 20% of cases. ARHGEF6,...
5.
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton D, Wu C, et al.
Genet Med
. 2021 Dec;
24(2):307-318.
PMID: 34906515
Purpose: Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic causes of isolated or syndromic CAKUT...
6.
Mao Y, Schneider R, van der Ven P, Assent M, Lohanadan K, Klambt V, et al.
Kidney Int Rep
. 2021 Feb;
6(2):472-483.
PMID: 33615072
Introduction: Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a "podocytopathy." Methods: We performed whole-exome...
7.
Klambt V, Mao Y, Schneider R, Buerger F, Shamseldin H, Onuchic-Whitford A, et al.
Kidney Int Rep
. 2021 Feb;
6(2):460-471.
PMID: 33615071
Introduction: Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of chronic kidney disease during childhood. Identification of 63 monogenic human genes has delineated 12 distinct pathogenic pathways. Methods:...
8.
Mann N, Mzoughi S, Schneider R, Kuhl S, Schanze D, Klambt V, et al.
J Am Soc Nephrol
. 2021 Feb;
32(3):580-596.
PMID: 33593823
Background: Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental defects and a progressive nephropathy, which typically manifests as steroid-resistant nephrotic syndrome. The prognosis of GAMOS is poor, and the majority of...
9.
Majmundar A, Buerger F, Forbes T, Klambt V, Schneider R, Deutsch K, et al.
Sci Adv
. 2021 Feb;
7(1).
PMID: 33523862
Nephrotic syndrome (NS) is a leading cause of chronic kidney disease. We found recessive variants in two families with early-onset NS by exome sequencing. Overexpression of wild-type (WT) , but...
10.
Weng P, Majmundar A, Khan K, Lim T, Shril S, Jin G, et al.
Am J Hum Genet
. 2021 Jan;
108(2):357-367.
PMID: 33508234
Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by...