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Citations to this article

Genetic basis of human congenital anomalies of the kidney and urinary tract
Simone Sanna-Cherchi, … , Gian Marco Ghiggeri, Ali G. Gharavi
Simone Sanna-Cherchi, … , Gian Marco Ghiggeri, Ali G. Gharavi
Published January 2, 2018
Citation Information: J Clin Invest. 2018;128(1):4-15. https://doi.org/10.1172/JCI95300.
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Review Article has an altmetric score of 14

Genetic basis of human congenital anomalies of the kidney and urinary tract

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Abstract

The clinical spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) encompasses a common birth defect in humans that has significant impact on long-term patient survival. Overall, data indicate that approximately 20% of patients may have a genetic disorder that is usually not detected based on standard clinical evaluation, implicating many different mutational mechanisms and pathogenic pathways. In particular, 10% to 15% of CAKUT patients harbor an unsuspected genomic disorder that increases risk of neurocognitive impairment and whose early recognition can impact clinical care. The emergence of high-throughput genomic technologies is expected to provide insight into the common and rare genetic determinants of diseases and offer opportunities for early diagnosis with genetic testing.

Authors

Simone Sanna-Cherchi, Rik Westland, Gian Marco Ghiggeri, Ali G. Gharavi

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Total citations by year

Year: 2025 2024 2023 2022 2021 2020 2019 2018 Total
Citations: 7 16 12 14 7 13 7 5 81
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article in year 2020 (13)

Title and authors Publication Year
Roles for urothelium in normal and aberrant urinary tract development
AR Jackson, CB Ching, KM McHugh, B Becknell
Nature Reviews Urology 2020
Genetic architecture of paediatric renal diseases in China and the need for data sharing
A Bierzynska, MA Saleem
Translational Pediatrics 2020
Rare genetic causes of complex kidney and urological diseases
EE Groopman, G Povysil, DB Goldstein, AG Gharavi
Nature Reviews Nephrology 2020
Genetic testing for kidney disease of unknown etiology
T Hays, EE Groopman, AG Gharavi
Kidney International 2020
Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract
R Westland, KY Renkema, NV Knoers
Clinical journal of the American Society of Nephrology : CJASN 2020
Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract
YH Ahn, C Lee, NK Kim, E Park, HG Kang, IS Ha, WY Park, HI Cheong
Journal of Clinical Medicine 2020
Autism spectrum disorder and kidney disease
J Clothier, M Absoud
Pediatric Nephrology 2020
Metabolic programming of nephron progenitor cell fate
GG Tortelote, M Colón-Leyva, Z Saifudeen
Pediatric Nephrology 2020
Rare heterozygous GDF6 variants in patients with renal anomalies
H Martens, I Hennies, M Getwan, A Christians, AC Weiss, F Brand, AC Gjerstad, A Christians, Z Gucev, R Geffers, T Seeman, A Kispert, V Tasic, A Bjerre, SS Lienkamp, D Haffner, RG Weber
European Journal of Human Genetics 2020
Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole‐exome sequencing
X Zhou, Y Wang, B Shao, C Wang, P Hu, F Qiao, Z Xu
Journal of Clinical Laboratory Analysis 2020
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome
N Yang, N Wu, S Dong, L Zhang, Y Zhao, W Chen, R Du, C Song, X Ren, J Liu, D Pehlivan, Z Liu, J Rao, C Wang, S Zhao, AM Breman, H Xue, H Sun, J Shen, S Zhang, JE Posey, H Xu, L Jin, J Zhang, P Liu, S Sanna-Cherchi, G Qiu, Z Wu, JR Lupski, F Zhang
Kidney International 2020
Childhood risk factors for adulthood chronic kidney disease
M Stern-Zimmer, R Calderon-Margalit, K Skorecki, A Vivante
Pediatric Nephrology 2020
Editorial: Developmental Disorders of the Kidney and Urinary Tract: Recent Insights From Clinical and Molecular Studies
EA Oliveira, RH Mak, AC e Silva
Frontiers in Pediatrics 2020

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