Author

Amanda Buchanan

Illumina (United States)

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Aakanksha AnandiD· 1 shared Ada HamoshiD· 1 shared Aditi Chawla· 1 shared Ai Ling KohiD· 1 shared Akanchha KesariiD· 1 shared Alicia B. ByrneiD· 1 shared Alison J. CoffeyiD· 1 shared Alka MalhotraiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 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 paperMolecular Biology

Aakanksha AnandORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy

Michael Robert Murphy, Mythily Ganapathi, Esther R. Rotlevi, Teresa M. Lee, Joshua M. Fisher, Megha V. Patel, Parul Jayakar, Amanda Buchanan, Alyssa L. Rippert, Rebecca C. Ahrens‐Nicklas, Divya R Nair, Shalini S. Nayak, Aakanksha Anand, Anju Shukla, Rajesh Kumar Soni, , Xuebing Wu

The paper identifies a pathogenetic mechanism for RPL3L-linked dilated cardiomyopathy, showing that gain-of-toxicity variants in muscle-specific ribosomes cause severe neonatal heart failure.

Nature Cardiovascular Research · Jan 6, 2026Peer-reviewedMolecular Biology

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista K. Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, , Alison J. Coffey

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

Genetics in Medicine Open · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine