Author

Ai Ling Koh

SingHealthORCID 0000-0002-4514-6869Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Ada HamoshiD· 1 shared Aditi Chawla· 1 shared Akanchha KesariiD· 1 shared Alicia B. ByrneiD· 1 shared Alison J. CoffeyiD· 1 shared Alka MalhotraiD· 1 shared Amanda Buchanan· 1 shared Amanda N. Girod· 1 shared

Activity by Year

2025-2025 · 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 paperGenetic & Genomic Medicine

Ada HamoshORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

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