Author

Michael Peracchio

Connecticut Children's Medical Center

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adam P. MatsoniD· 1 shared Cameron King· 1 shared Elizabeth A. WerreniD· 1 shared Jessica M. EwaldiD· 1 shared Louisa KalsneriD· 1 shared Mark D. AdamsiD· 1 shared Melissa A. Kelly· 1 shared Peter A. AudanoiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Adam P. MatsonORCID

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1 paper

Recent·Most cited

A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome

Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A. Audano, Peter N. Robinson, Mark D. Adams, Melissa A. Kelly, Adam P. Matson

The paper identifies a novel de novo PAK2 variant in a patient with Knobloch syndrome type 2, supporting PAK2's role in the disorder and expanding its clinical features.

American Journal of Medical Genetics Part A · Jan 28, 2025Peer-reviewedGenomics