Author

Ahmed A. Jamjoom

University of TorontoORCID 0000-0002-9852-4923Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Ali AlMailiD· 1 shared Alissa M. D’GamaiD· 1 shared Amy McTagueiD· 1 shared Amy Y. PaniD· 1 shared Annapurna PoduriiD· 1 shared Anne S. BassettiD· 1 shared Catherine DiskiniD· 1 shared Danielle A. BaribeauiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ali AlMailORCID

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1 paper

Recent·Most cited

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

Ali AlMail, Ahmed A. Jamjoom, Amy Y. Pan, Min Yi Feng, Vann Chau, Alissa M. D’Gama, Katherine B. Howell, Nicole Si Yan Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, Anne S. Bassett, John Christodoulou, Lucie Dupuis, Peter J. Gill, , Gregory Costain

The paper reviews phenotype reporting in genetic disorders and proposes guidelines to improve clinical relevance.

medRxiv · Sep 13, 2023 · PreprintGenetic & Genomic Medicine