A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease-Reference-Cited by-同舟云学术

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

Published:2024-06 Issue:6 Volume:83 Page:829-833
ISSN:0272-6386
Container-title:American Journal of Kidney Diseases
language:en
Short-container-title:American Journal of Kidney Diseases

Author:

Richter Felix^ORCID,Rutherford Kayleigh D.,Cooke Anisha J.,Meshkati Malorie,Eddy-Abrams Vanessa,Greene Daniel,Kosowsky Jordana,Park Yeaji,Aggarwal Surabhi,Burke Rebecca J.,Chang Weili,Connors Jillian,Giannone Peter J.,Hays Thomas,Khattar Divya,Polak Mark,Senaldi Liana,Smith-Raska Matthew,Sridhar Shanthy,Steiner Laurie,Swanson Jonathan R.,Tauber Kate A.,Barbosa Mafalda,Guttmann Katherine F.,Turro Ernest

Publisher

Elsevier BV

Reference22 articles.

1. Epidemiology, economics, and ethics in the NICU: reflections from 30 years of neonatology practice;Meadow;J Pediatr Gastroenterol Nutr,2007

2. Etiologies of NICU deaths;Jacob;Pediatrics,2015

3. Fetal mortality: United States, 2020;Gregory;Natl Vital Stat Rep,2022

4. Infant mortality: the contribution of genetic disorders;Wojcik;J Perinatol,2019

5. Predicting splicing from primary sequence with deep learning;Jaganathan;Cell,2019

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family;Medicine;2024-08-02

2. Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants;Human Genomics;2024-02-27