Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

Wu, C.-H. W., Lim, T. Y., Wang, C., Seltzsam, S., Zheng, B., Schierbaum, L., Schneider, S., Mann, N., Connaughton, D. M., Nakayama, M., van der Ven, A. T., Dai, R., Kolvenbach, C. M., Kause, F., Ottlewski, I., Stajic, N., Soliman, N. A., Kari, J. A., El Desoky, S., … Hildebrandt, F. (2022). Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. European Urology Open Science, 44, 106–112. https://doi.org/10.1016/j.euros.2022.08.004
Authors:
Chen-Han Wilfred Wu
Tze Y. Lim
Chunyan Wang
Steve Seltzsam
Bixia Zheng
Luca Schierbaum
Sophia Schneider
Nina Mann
Dervla M. Connaughton
Makiko Nakayama
Amelie T. van der Ven
Rufeng Dai
Caroline M. Kolvenbach
Franziska Kause
Isabel Ottlewski
Natasa Stajic
Neveen A. Soliman
Jameela A. Kari
Sherif El Desoky
Hanan M. Fathy
Danko Milosevic
Daniel Turudic
Muna Al Saffar
Hazem S. Awad
Loai A. Eid
Aravind Ramanathan
Prabha Senguttuvan
Shrikant M. Mane
Richard S. Lee
Stuart B. Bauer
Weining Lu
Alina C. Hilger
Velibor Tasic
Shirlee Shril
Simone Sanna-Cherchi
Friedhelm Hildebrandt
Affiliated Authors:
Tze Y. Lim
Simone Sanna-Cherchi
Columbia Affiliation:
Subjects:
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Prenatal Aneuploidy Diagnosis and Screening Techniques (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Author Keywords:
congenital anomalies of the
kidney and urinary tract
vesicoureteral reflux
copy number variation
whole-exome sequencing
monogenic disease causation
renal developmental
baf, b allele frequency
cakut, congenital anomalies of the kidneys and urinary tract
cnv, copy number variations
congenital anomalies of the kidney and urinary tract
gd-cnv, genomic disorders copy number variation
irb, institutional review board
wes, whole-exome sequencing
elink
Publication Type:
Article
Unique ID:
10.1016/j.euros.2022.08.004
DOI:
10.1016/j.euros.2022.08.004
Journal:
European Urology Open Science
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View PubMed Record
View OpenAlex Record
View Web of Science Record

Record Created: