Mathew Maher
Massachusetts Eye and Ear Infirmary
5 Papers
3 Citations
Mathew Maher is an academic researcher from Massachusetts Eye and Ear Infirmary. The author has contributed to research in topics: Whole genome sequencing & Gene. The author has an hindex of 3, co-authored 5 publications.
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Papers
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.
Farzad Jamshidi,Emily Place,Sudeep Mehrotra,Daniel Navarro-Gomez,Mathew Maher,Kari Branham,Elise Valkanas,Timothy J. Cherry,Monkol Lek,Monkol Lek,Daniel G. MacArthur,Daniel G. MacArthur,Eric A. Pierce,Kinga M. Bujakowska +13 more
TL;DR: The results suggest that noncoding pathogenic variants contribute significantly to the genetic causality of IRDs and RPGRIP1-mediated IRDs are more common than previously thought.
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Contribution of structural and intronic mutations to RPGRIP1-mediated inherited retinal dystrophies
Farzad Jamshidi,Emily Place,Daniel Navarro-Gomez,Mathew Maher,Elise Valkanas,Monkol Lek,Daniel G. MacArthur,Kinga M. Bujakowska,Eric A. Pierce +8 more
TL;DR: An expansion of both sequencing and bioinformatics tools in the diagnostics of inherited retinal degenerations to increase sensitivity and to make confident calls before enrolling patients in specific gene therapy clinical trials is suggested.
Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration.
Farzad Jamshidi,Emily Place,Sudeep Mehrotra,Daniel Navarro-Gomez,Mathew Maher,Elise Valkanas,Timothy J. Cherry,Monkol Lek,Daniel G. MacArthur,Eric A. Pierce,Kinga M. Bujakowska +10 more
TL;DR: In this paper, the authors examined the significance of noncoding mutations in the RPGRIP1 and found that the non-coding mutation can solve a significant portion of such cases.
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.
Revital Bronstein,Elizabeth E. Capowski,Sudeep Mehrotra,Alex D. Jansen,Daniel Navarro-Gomez,Mathew Maher,Emily Place,Riccardo Sangermano,Kinga M. Bujakowska,David M. Gamm,Eric A. Pierce +10 more
TL;DR: An unbiased approach combining whole genome sequencing (WGS) with patient induced pluripotent stem cell (iPSC) derived retinal organoids (ROs) transcriptome analysis is presented, identifying and functionally validated a novel pathogenic non-coding variant in a small family with a previously unresolved genetic diagnosis.
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.
Revital Bronstein,Elizabeth E. Capowski,Sudeep Mehrotra,Alex D. Jansen,Daniel Navarro-Gomez,Mathew Maher,Emily Place,Riccardo Sangermano,Kinga M. Bujakowska,David M. Gamm,Eric A. Pierce +10 more
TL;DR: An unbiased approach combining whole genome sequencing (WGS) with patient induced pluripotent stem cell (iPSC) derived retinal organoids (ROs) transcriptome analysis is presented, identifying and functionally validated a novel pathogenic non-coding variant in a small family with a previously unresolved genetic diagnosis.