Author

Alex Robertson

Pacific Biosciences (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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Benedict PateniD· 1 shared Brandy McNulty· 1 shared Catherine E. KeeganiD· 1 shared Courtney Anne FinlaysoniD· 1 shared Emmanuèle C. DélotiD· 1 shared Eric J. N. VilainiD· 1 shared Hayk BarseghyaniD· 1 shared Ivan De DiosiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Benedict PatenORCID

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1 paper

Recent·Most cited

Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia

Jean Monlong, Xiao Chen, Hayk Barseghyan, William J. Rowell, Shloka Negi, Natalie Nokoff, Lauren H. Mohnach, Josephine A. Hirsch, Courtney Anne Finlayson, Catherine E. Keegan, Miguel Almalvez, Seth Berger, Ivan De Dios, Brandy McNulty, Alex Robertson, , Emmanuèle C. Délot

This paper uses long-read sequencing to comprehensively identify pathogenic variants in the CYP21A2 locus for Congenital Adrenal Hyperplasia, including phasing and module counts, improving diagnostic accuracy.

medRxiv · Feb 7, 2025 · PreprintGenetic & Genomic Medicine