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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: 6 16 12 14 7 13 7 5 80
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 2018 (5)

Title and authors Publication Year
Update on Genetic Conditions Affecting the Skin and the Kidneys
A Reimer, Y He, C Has
Frontiers in Pediatrics 2018
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu, P Krithivasan, A Mitrotti, DA Fasel, E Batourina, MG Sampson, M Bodria, M Werth, C Kao, J Martino, VP Capone, A Vivante, S Shril, BH Kil, M Marasà, JY Zhang, YJ Na, TY Lim, D Ahram, PL Weng, EL Heinzen, A Carrea, G Piaggio, L Gesualdo, V Manca, G Masnata, M Gigante, D Cusi, C Izzi, F Scolari, JA van Wijk, M Saraga, D Santoro, G Conti, P Zamboli, H White, D Drozdz, K Zachwieja, M Miklaszewska, M Tkaczyk, D Tomczyk, A Krakowska, P Sikora, T Jarmoliński, MK Borszewska-Kornacka, R Pawluch, M Szczepanska, P Adamczyk, M Mizerska-Wasiak, G Krzemien, A Szmigielska, M Zaniew, MG Dobson, JM Darlow, P Puri, DE Barton, SL Furth, BA Warady, Z Gucev, VJ Lozanovski, V Tasic, I Pisani, L Allegri, LM Rodas, JM Campistol, C Jeanpierre, S Alam, P Casale, CS Wong, F Lin, DM Miranda, EA Oliveira, AC Simões-e-Silva, JM Barasch, B Levy, N Wu, F Hildebrandt, GM Ghiggeri, A Latos-Bielenska, A Materna-Kiryluk, F Zhang, H Hakonarson, VE Papaioannou, CL Mendelsohn, AG Gharavi, S Sanna-Cherchi
Nature Genetics 2018
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia
TR Nixon, A Richards, LK Towns, G Fuller, S Abbs, P Alexander, A McNinch, RN Sandford, MP Snead
European Journal of Human Genetics 2018
Transcription Factor 21 Is Required for Branching Morphogenesis and Regulates the Gdnf-Axis in Kidney Development
S Ide, G Finer, Y Maezawa, T Onay, T Souma, R Scott, K Ide, Y Akimoto, C Li, M Ye, X Zhao, Y Baba, T Minamizuka, J Jin, M Takemoto, K Yokote, SE Quaggin
Journal of the American Society of Nephrology : JASN 2018
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish
ML Reilly, MF Stokman, V Magry, C Jeanpierre, M Alves, M Paydar, J Hellinga, M Delous, D Pouly, M Failler, J Martinovic, L Loeuillet, B Leroy, J Tantau, J Roume, CY Gregory-Evans, X Shan, I Filges, JS Allingham, BH Kwok, S Saunier, RH Giles, A Benmerah
Human Molecular Genetics 2018

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