Modification of the PROM1 disease phenotype by a mutation in ABCA4-Reference-Cited by-同舟云学术

Modification of the PROM1 disease phenotype by a mutation in ABCA4

Published:2019-07-04 Issue:4 Volume:40 Page:369-375
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Lee Winston¹,Paavo Maarjaliis¹,Zernant Jana¹,Stong Nicholas²,Laurente Zachary³,Bearelly Srilaxmi¹,Nagasaki Takayuki¹,Tsang Stephen H.¹⁴,Goldstein David B.²,Allikmets Rando¹⁴

Affiliation:

1. Department of Ophthalmology, Columbia University, New York, New York, USA

2. Institute of Genomic Medicine, Columbia University, New York, New York, USA

3. Bluhm Cardiovascular Institute, Northwestern Memorial Hospital, Northwestern University, Chicago, Illinois, USA

4. Department of Pathology & Cell Biology, Columbia University, New York, New York, USA

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1660382

Reference27 articles.

1. Genetic modifiers as relevant biological variables of eye disorders

2. ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

3. ISCEV Standard for full-field clinical electroretinography (2015 update)

4. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

5. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

Cited by 17 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. Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders;Investigative Opthalmology & Visual Science;2023-11-17

2. Loss of Prom1 impairs autophagy and promotes epithelial‐mesenchymal transition in mouse retinal pigment epithelial cells;Journal of Cellular Physiology;2023-08-23

3. MACULAR ATROPHY AND PHENOTYPIC VARIABILITY IN AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY DUE TO PROM1 MUTATION;Retina;2023-07

4. Insights Into PROM1-Macular Disease Using Multimodal Imaging;Investigative Opthalmology & Visual Science;2023-04-24

5. Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci;Human Molecular Genetics;2023-03-23