A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease

Richter, F., Rutherford, K. D., Cooke, A. J., Meshkati, M., Eddy-Abrams, V., Greene, D., Kosowsky, J., Park, Y., Aggarwal, S., Burke, R. J., Chang, W., Connors, J., Giannone, P. J., Hays, T., Khattar, D., Polak, M., Senaldi, L., Smith-Raska, M., Sridhar, S., … Turro, E. (2024). A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease. American Journal of Kidney Diseases, 83(6), 829–833. https://doi.org/10.1053/j.ajkd.2023.12.011
Authors:
Felix Richter
Kayleigh D. Rutherford
Anisha J. Cooke
Malorie Meshkati
Vanessa Eddy-Abrams
Daniel Greene
Jordana Kosowsky
Yeaji Park
Surabhi Aggarwal
Rebecca J. Burke
Weijie Chang
Jillian Connors
Peter J. Giannone
Thomas Hays
Divya Khattar
Mark J Polak
Liana Senaldi
Matthew Smith-Raska
Shanthy Sridhar
Laurie A. Steiner
Jonathan R. Swanson
Kate A. Tauber
Mafalda Barbosa
Katherine Guttmann
Ernest Turro
Affiliated Authors:
Thomas Hays
Liana Senaldi
Matthew Smith-Raska
Author Keywords:
arpkd
deceased
intronic
nicu
pkhd1
spliceai
Publication Type:
Article
Unique ID:
10.1053/j.ajkd.2023.12.011
PMID:
Publication Date:
Data Source:
OpenAlex

Record Created: