Author

Hanna T. Gazda

Boston Children's HospitalORCID 0000-0003-1736-0208Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alan H. BeggsiD· 2 shared Anne O’Donnell‐LuriaiD· 2 shared Casie A. GenettiiD· 2 shared Daniel G. MacArthuriD· 2 shared Jeffrey M. VerbooniD· 2 shared Katherine R. ChaoiD· 2 shared Vijay G. SankaraniD· 2 shared Aaron N. ChengiD· 1 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 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

Alan H. BeggsORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 8, 2023

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Monica Hsiung Wojcik, Gabrielle Lemire, Maha Saad Zaki…·Anne O’Donnell‐Luria

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

7 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedNov 29, 2018

The Genetic Landscape of Diamond-Blackfan Anemia

Jacob C. Ulirsch, Jeffrey M. Verboon, Shideh Kazerounian…·Hanna T. Gazda

This study identifies genetic mutations in 78% of Diamond-Blackfan anemia patients using whole exome sequencing, finds new RP genes, and reports genotype-phenotype associations.

273 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky