Author

Rachel M. Huckfeldt

Massachusetts Eye and Ear InfirmaryORCID 0000-0002-9220-2261Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Emily PlaceiD· 2 shared Eric A. PierceiD· 2 shared Kinga M. BujakowskaiD· 2 shared Alaa AlTalbishiiD· 1 shared Ana Berta SousaiD· 1 shared Andrew R. WebsteriD· 1 shared Anna LarsoniD· 1 shared Anne B. FultoniD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Emily PlaceORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 30, 2022

A high throughput splicing assay to investigate the effect of variants of unknown significance on exon inclusion

Hilary A. Scott, Emily Place, Evelyn Harper…·Kinga M. Bujakowska

The paper develops a high throughput splicing assay (HTSA) to assess the impact of variants of unknown significance on exon inclusion, identifying 47 variants that significantly reduce exon recognition.

7 citations

humanDNA methylation

𝕏 PostBluesky

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedJun 29, 2021

Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

Riccardo Sangermano, Iris Deitch, Virginie G. Peter…·Kinga M. Bujakowska

The paper identifies INPP5E variants in non-syndromic retinal degenerations, expanding the known phenotypic spectrum of this ciliary gene.

22 citations

humanstatistical model

𝕏 PostBluesky