Beryl B Cummings

9PUBLICATIONS
113CO-AUTHORS
PharmacogenomicsCancer geneticsGene expression (incl. microarray and other genome-wide approaches)Molecular targets
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Publications (9)

|Aug 07, 2026
Development and characterization of a long-acting allosteric growth hormone receptor antagonist for acromegaly.

|Apr 08, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

A Reghan Foley, Véronique Bolduc, Fady Guirguis

|Aug 03, 2022
Transcriptome variation in human tissues revealed by long-read sequencing.

Dafni A Glinos, Garrett Garborcauskas, Paul Hoffman

|May 29, 2020
The effect of LRRK2 loss-of-function variants in humans.

Nicola Whiffin, Irina M Armean, Aaron Kleinman

|May 29, 2020
Transcript expression-aware annotation improves rare variant interpretation.

Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki

|Oct 12, 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare disease.

Pejman Mohammadi, Stephane E Castel, Beryl B Cummings

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Frequent Collaborators

8 joint publications

Daniel G MacArthur

5 joint publications

Konrad J Karczewski

4 joint publications

Jessica Alföldi

3 joint publications

Anne H O'Donnell-Luria