Author

Brett H. Graham

Indiana University School of MedicineORCID 0000-0001-8451-8154Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Brendan LeeiD· 3 shared Carlos A. BacinoiD· 3 shared Christine M. EngiD· 3 shared Undiagnosed Diseases Network· 3 shared Alan H. BeggsiD· 2 shared Alyssa A. Tran· 2 shared Anne Michele SlavotinekiD· 2 shared Arjun TarakadiD· 2 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Brendan LeeORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineGenome biologyPeer-reviewedJun 15, 2026

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

Alexis Ferrasse, Rodrigo Mendez, John E. Gorzynski…·Carlos A. Pardo-Villamizar

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

1 citation

humanwhole-genome sequencing

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Genetic & Genomic MedicineGenome MedicinePeer-reviewedOct 21, 2025

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Isabelle B. Cooperstein, Shruti Marwaha, Alistair N. Ward…·Emily Glanton

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

17 citationstop 1%

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintMar 30, 2023

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

DOI 10.1101/2023.03.30.23287962

humanstatistical model

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GeneticsAnnals of Clinical and Translational NeurologyPeer-reviewedSep 15, 2018

Phenotypic expansion in DDX3X -- a common cause of intellectual disability in females

Xia Wang, Jennifer Ellen Posey, Jill Anne Rosenfeld…·Paolo M. Moretti

The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.

84 citationstop 3%

human

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