Author

Sehar Riaz

University of Maryland, Baltimore

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:Bayesian inference· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Organism:mouse· 1

Frequent Co-Authors

Arnaud P. J. GieseiD· 2 shared Saima RiazuddiniD· 2 shared Zubair M. AhmediD· 2 shared Andrew David MumfordiD· 1 shared Andrew J. GriffithiD· 1 shared Bart LoeysiD· 1 shared Bruce D. GelbiD· 1 shared Carmen C. BreweriD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Arnaud P. J. GieseORCID

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Author profile →

2 papers

Recent·Most cited

Genetic association analysis of 269 rare diseases reveals novel aetiologies

Daniel J. Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed A. Al‐Owain, Arnaud P. J. Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D. Gelb, Paul Brennan, Verity L. Hartill, Julie Harvengt, , Ernest Turro

This study uses a computational framework to analyze genetic data from 77,539 genomes, identifying 21 novel genetic associations with 269 rare diseases.

Nature Medicine · Mar 1, 2023Peer-reviewedGenetic & Genomic Medicine

Potential therapy for progressive vision loss due to PCDH15-associated Usher syndrome developed in an orthologous Usher mouse

Saumil Sethna, Wadih M. Zein, Sehar Riaz, Arnaud P. J. Giese, Julie M. Schultz, Todd E Duncan, Robert B. Hufnagel, Carmen C. Brewer, Andrew J. Griffith, T. Michael Redmond, Saima Riazuddin, Thomas B. Friedman, Zubair M. Ahmed

The paper describes a potential therapy for PCDH15-associated Usher syndrome using exogenous retinoids in a mouse model, showing improved ERG amplitudes.

bioRxiv · Jun 8, 2021 · PreprintNeuroscience