Author

Adam F. Johnson

Children's Mercy HospitalORCID 0000-0003-0004-9755Unclaimed 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

Organism:human· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Boryana S. KosevaiD· 2 shared Chengpeng Bi· 2 shared Elin GrundbergiD· 2 shared Isabelle ThiffaultiD· 2 shared Tomi PastineniD· 2 shared Warren CheungiD· 2 shared Aaron M. WengeriD· 1 shared Ana S.A. CoheniD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 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

2 shared papersGenetic & Genomic Medicine

Boryana S. KosevaORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 15, 2025

Expanded map of genomic imprinting reveals insight into human disease

Craig Smail, Warren Cheung, Boryana S. Koseva…·Elin Grundberg

The paper expands the human genomic imprinting map using long-read sequencing and GWAS integration, revealing new disease-associated loci and maternal/paternal imprinting patterns.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMay 29, 2023

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Warren Cheung, Adam F. Johnson, William J. Rowell…·Tomi Pastinen

The paper uses HiFi sequencing to identify hypermethylation outliers in a rare disease cohort, finding allele-specific loss of regulatory elements linked to disease.

49 citationstop 3%

humanwhole-genome sequencing

𝕏 PostBluesky