Litcius/Paper detail

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

Gökhan Ünlü, Xinzi Qi, Eric R. Gamazon, D. Melville, Nisha Patel, Amy R. Rushing, Mais Hashem, Abdullah Alfaifi, Rui Chen, Bingshan Li, Nancy J. Cox, Fowzan S. Alkuraya, Ela W. Knapik

2020Nature Medicine51 citationsDOIOpen Access PDF

Topics & Concepts

PhenomeBiobankZebrafishMendelian inheritanceDiseaseOMIM : Online Mendelian Inheritance in ManMechanism (biology)Human geneticsBiologyPhenotypeExome sequencingBioinformaticsGeneticsExomeCandidate geneMedicineComputational biologyGenePathologyEpistemologyPhilosophyGenetic Associations and EpidemiologyRNA Research and SplicingConnective tissue disorders research