Author

Cara M. Skraban

Children's Hospital of PhiladelphiaORCID 0000-0001-5030-4692Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alan H. BeggsiD· 2 shared Anita M. RauchiD· 2 shared Anna HurstiD· 2 shared Kévin UgueniD· 2 shared Sylvia RedoniD· 2 shared Aaron R. QuinlaniD· 1 shared Abdul Aziz ElkadriiD· 1 shared Ada HamoshiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alan H. BeggsORCID

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3 papers

Recent·Most cited

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 MedicinemedRxivPreprintSep 29, 2022

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano…·Gregory M. Cooper

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

DOI 10.1101/2022.09.29.22279724

humanstatistical model

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 3, 2021

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny F. Lai…·Timothy W. Yu

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

84 citationstop 3%

humanbulk RNA-seq

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