Publications by authors named "Beryl B Cummings"

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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Beryl B Cummings

Brain· September 2025

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An ANGPTL4 inhibitory antibody safely improves lipid profiles in non-human primates.
Beryl B Cummings, Page R Bouchard, Mark N Milton, Peter F Moesta, Vyas Ramanan

EBioMedicine· July 2025

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Safety and efficacy of a novel ANGPTL4 inhibitory antibody for lipid lowering: results from phase 1 and phase 1b/2a clinical studies.
Beryl B Cummings, Mark P Joing, Page R Bouchard, Mark N Milton, Peter F Moesta

Lancet· May 2025

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Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits.
Saaket Agrawal, Jian'an Luan, Beryl B Cummings, Ethan J Weiss, Nick J Wareham

Diabetes· July 2024

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Beryl B Cummings

Nat Genet· March 2024

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The recurrent deep intronic pseudoexon-inducing variant 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, Sandra Donkervoort, Ying Hu, Beryl B Cummings

medRxiv· March 2024

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Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders.
Julie C Ullman, Kevin T Mellem, Yannan Xi, Vyas Ramanan, Hanne Merritt, Beryl B Cummings

Sci Transl Med· January 2024

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Transcriptome variation in human tissues revealed by long-read sequencing.
Dafni A Glinos, Garrett Garborcauskas, Paul Hoffman, Nava Ehsan, Lihua Jiang, Beryl B Cummings

Nature· August 2022

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TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.
X Rosa Ma, Mercedes Prudencio, Yuka Koike, Sarat C Vatsavayai, Garam Kim, Beryl B Cummings

Nature· March 2022

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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Beryl B Cummings

EMBO Mol Med· December 2021

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Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Sanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings

Nature· September 2021

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Author Correction: The effect of LRRK2 loss-of-function variants in humans.
Nicola Whiffin, Irina M Armean, Aaron Kleinman, Jamie L Marshall, Eric V Minikel, Beryl B Cummings

Nat Med· February 2021

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Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Qingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, Jessica Alföldi, Laurent C Francioli

Nat Commun· February 2021

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Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi

Nature· February 2021

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Author Correction: Transcript expression-aware annotation improves rare variant interpretation.
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, Eleanor G Seaby, Nicholas A Watts

Nature· February 2021

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Author Correction: Evaluating drug targets through human loss-of-function genetic variation.
Eric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, Beryl B Cummings, Nicola Whiffin

Nature· February 2021

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WGS and RNA Studies Diagnose Noncoding Variants in Males With High Creatine Kinase.
Leigh B Waddell, Samantha J Bryen, Beryl B Cummings, Adam Bournazos, Frances J Evesson

Neurol Genet· February 2021

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Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.
Samantha J Bryen, Emily C Oates, Frances J Evesson, Jessica K Lu, Leigh B Waddell, Beryl B Cummings

Eur J Hum Genet· January 2021

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The effect of LRRK2 loss-of-function variants in humans.
Nicola Whiffin, Irina M Armean, Aaron Kleinman, Jamie L Marshall, Eric V Minikel, Beryl B Cummings

Nat Med· June 2020

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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Qingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, Jessica Alföldi, Laurent C Francioli

Nat Commun· May 2020

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Evaluating drug targets through human loss-of-function genetic variation.
Eric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, Beryl B Cummings, Nicola Whiffin

Nature· May 2020

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The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi

Nature· May 2020

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Transcript expression-aware annotation improves rare variant interpretation.
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, Eleanor G Seaby, Nicholas A Watts

Nature· May 2020

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Genetic regulatory variation in populations informs transcriptome analysis in rare disease.
Pejman Mohammadi, Stephane E Castel, Beryl B Cummings, Jonah Einson, Christina Sousa

Science· October 2019

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Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
Lisa G Riley, Leigh B Waddell, Roula Ghaoui, Frances J Evesson, Beryl B Cummings

Eur J Hum Genet· August 2019

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