Author

Maria Pujantell

York College, City University of New YorkORCID 0000-0002-9471-5853Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ahmad AlahmadiD· 1 shared Amy Goldstein· 1 shared Benjamin Lucas· 1 shared Buthaina AlbashiD· 1 shared Charlotte L. AlstoniD· 1 shared Christopher A. PowelliD· 1 shared Daniela Verrigni· 1 shared Daniele GhezziiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Ahmad AlahmadORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’-end processing

Makenzie Saoura, Christopher A. Powell, Robert Kopajtich, Ahmad Alahmad, Haya H. Al‐Balool, Buthaina Albash, Majid Alfadhel, Charlotte L. Alston, Enrico Bertini, Penelope E. Bonnen, Drago Bratkovic, Rosalba Carrozzo, Maria Alice Donati, Michela Di Nottia, Daniele Ghezzi, , Michal A. Minczuk

This study identifies novel ELAC2 variants linked to hypertrophic cardiomyopathy and mitochondrial dysfunction, confirms their pathogenicity through in vitro analysis, and links one variant to prostate cancer.

Human Mutation · May 2, 2019Peer-reviewedGenetics