Author

Louisa Kalsner

Connecticut Children's Medical CenterORCID 0000-0003-0484-2013Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Approach:experimental assay· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adam P. MatsoniD· 1 shared Alicia B. ByrneiD· 1 shared Amanda M. Elashoff· 1 shared Brian G. SkotkoiD· 1 shared Caleb YangiD· 1 shared Cameron King· 1 shared Carolyn LeiD· 1 shared Christine MunroiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenomics

Adam P. MatsonORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 19, 2025

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities

Emanuela Argilli, Caleb Yang, Carolyn Le…·Elliott H. Sherr

The paper identifies ABI2 missense variants linked to neurodevelopmental disorders with intellectual disability, epilepsy, and brain malformations through exome sequencing.

1 citation

humanwhole-exome sequencing

GenomicsAmerican Journal of Medical Genetics Part APeer-reviewedJan 28, 2025

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

Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald…·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.

6 citations

humanwhole-genome sequencing