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American Journal of Ophthalmology|December 14, 2020
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, et al.Nature Machine Intelligence|June 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2GeneNikolas Pontikos, William A Woof, Siying Lin, et al.Science Translational Medicine|January 12, 2018
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's diseaseKen Y Hui, Heriberto Fernandez-Hernandez, Jianzhong Hu, et al.American Journal of Human Genetics|March 14, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesMingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al.Nature Communications|February 27, 2020
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variantsAna Rio-Machin, Tom Vulliamy, Nele Hug, et al.Plos Genetics|May 31, 2019
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.Plos Genetics|May 26, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.Asia-Pacific Journal of Ophthalmology (Philadelphia, Pa.)|October 4, 2024
Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED NetworkWendy M Wong, Yih Chung Tham, Lauren N Ayton, et al.Gastroenterology|July 6, 2016
A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSFLing-Shiang Chuang, Nicole Villaverde, Ken Y Hui, et al.Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.Pageof 15