Author

Chloe E. Mighton

Broad Institute

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· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Stephanie P. DiTroiaiD· 2 shared A. D. Neale· 1 shared Alba Sanchis‐JuaniD· 1 shared Alban C. ZiegleriD· 1 shared Alexander P.A. StegmanniD· 1 shared Alice GoldenbergiD· 1 shared Alicia Pham· 1 shared Alysia Kern LovgreniD· 1 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Stephanie P. DiTroiaORCID

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Author profile →

3 papers

Recent·Most cited

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

Anne O’Donnell‐Luria, Stephanie P. DiTroia, Melanie O’Leary, Lynn S. Pais, Vijay S Ganesh, Gabrielle Lemire, Emily O’Heir, A. D. Neale, Alicia Pham, Grace E. VanNoy, Brian E. Mangilog, Moriel Singer‐Berk, Alba Sanchis‐Juan, Hana Snow, Siwaar Abouhala, , Heidi L. Rehm

The Rare Genomes Project provides remote genomic sequencing to rare disease families, achieving a 23.3% diagnostic solve rate and highlighting the role of research in overcoming clinical diagnostic barriers.

medRxiv · Sep 20, 2026 · PreprintGenetic & Genomic Medicine

Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease

Deborah Ritter, Chansonette Badduke, Kurston Doonanco, Hio Chung Kang, Tina F. Pesaran, Sarah Ridd, Clare Sheen, Kirsten M. Farncombe, Rachel H. Giles, Minjie Luo, Neta Pipko, Chung Ting Tsoi, Kelly McGoldrick, Chloe E. Mighton, Razan Abu Kashabeh, , Raymond H. Kim

The paper describes the development of variant classification specifications for the VHL gene using ACMG/AMP guidelines, resulting in updated evidence codes and improved classification consistency.

Genetics in Medicine · May 1, 2026Peer-reviewedGenetic & Genomic Medicine

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia M. Maas, Bénédicte Gérard, Thomas Smol, Catherine Vincent‐Delorme, Benjamin Cogné, , Tianyun Wang

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

medRxiv · Jun 13, 2023 · PreprintGenetic & Genomic Medicine