Author

Caitlin R. Schwager

Children's Mercy Hospital

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:gene regulatory network inference· 1 Assay:long-read sequencing· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Bonnie R. SullivaniD· 2 shared Emily FarrowiD· 2 shared Isabelle ThiffaultiD· 2 shared Aaron M. WengeriD· 1 shared Adam M. Walter· 1 shared Ahmed T. AbdelmoityiD· 1 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bonnie R. SullivanORCID

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2 papers

Recent·Most cited

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, E. Christopher Partridge, Fatima Abidi, Ashlyn G. Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann‐Gagescu, Andrea Bartuli, Caroline Bénech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, , 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.

medRxiv · Sep 29, 2022 · PreprintGenetic & Genomic Medicine

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Ana S.A. Cohen, Emily Farrow, Ahmed T. Abdelmoity, Joseph T. Alaimo, Shivarajan Manickavasagam Amudhavalli, John T. Anderson, Lalit R. Bansal, Lauren E. Bartik, Primo A. Baybayan, Bradley Belden, Courtney Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion J. Buske, Shreyasee Chakraborty, , Tomi Pastinen

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.

Genetics in Medicine · Mar 16, 2022Peer-reviewedGenetic & Genomic Medicine