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Plos Genetics|February 20, 2014
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSomeXitiz Chamling, Seongjin Seo, Charles C Searby, et al.Bioengineering (Basel, Switzerland)|March 27, 2024
Joint Representation Learning for Retrieval and Annotation of Genomic Interval SetsErfaneh Gharavi, Nathan J LeRoy, Guangtao Zheng, et al.Prenatal Diagnosis|March 22, 2001
Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysisH Shalev, A Mishori-Dery, J Kapelushnik, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|January 1, 1997
Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)J Brown, J H Fingert, C M Taylor, et al.Proceedings of the National Academy of Sciences of the United States of America|September 1, 1991
Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymomaA K Metzger, V C Sheffield, G Duyk, et al.The Journal of Biological Chemistry|May 11, 2018
Transforming growth factor β2 (TGFβ2) signaling plays a key role in glucocorticoid-induced ocular hypertensionRamesh B Kasetti, Prabhavathi Maddineni, Pinkal D Patel, et al.Bioinformatics (Oxford, England)|October 28, 2025
ConceptDrift: leveraging spatial, temporal and semantic evolution of biomedical concepts for hypothesis generationAmir Hassan Shariatmadari, Alireza Jafari, Sikun Guo, et al.Proceedings of the National Academy of Sciences of the United States of America|January 10, 2019
Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRPQihong Zhang, Joseph C Giacalone, Charles Searby, et al.American Journal of Human Genetics|April 19, 2011
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1Masha Mazor, Soliman Alkrinawi, Vered Chalifa-Caspi, et al.Cell Reports Methods|February 25, 2022
Detecting molecular subtypes from multi-omics datasets using SUMOKarolina Sienkiewicz, Jinyu Chen, Ajay Chatrath, et al.Pageof 41