Beryl B Cummings
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Explore the profile of Beryl B Cummings including associated specialties, affiliations and a list of published articles.
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36
Citations
12383
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Recent Articles
1.
Foley A, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, et al.
medRxiv
. 2024 Apr;
PMID: 38585825
Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterised by progressive muscle weakness, joint...
2.
Topf A, Cox D, Zaharieva I, Di Leo V, Sarparanta J, Jonson P, et al.
Nat Genet
. 2024 Mar;
56(3):395-407.
PMID: 38429495
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field....
3.
Agrawal S, Luan J, Cummings B, Weiss E, Wareham N, Khera A
Diabetes
. 2024 Feb;
73(7):1099-1111.
PMID: 38345889
Article Highlights:
4.
Ullman J, Mellem K, Xi Y, Ramanan V, Merritt H, Choy R, et al.
Sci Transl Med
. 2024 Jan;
16(730):eadf1691.
PMID: 38232139
Glycogen synthase 1 (GYS1), the rate-limiting enzyme in muscle glycogen synthesis, plays a central role in energy homeostasis and has been proposed as a therapeutic target in multiple glycogen storage...
5.
Glinos D, Garborcauskas G, Hoffman P, Ehsan N, Jiang L, Gokden A, et al.
Nature
. 2022 Aug;
608(7922):353-359.
PMID: 35922509
Regulation of transcript structure generates transcript diversity and plays an important role in human disease. The advent of long-read sequencing technologies offers the opportunity to study the role of genetic...
6.
Ma X, Prudencio M, Koike Y, Vatsavayai S, Kim G, Harbinski F, et al.
Nature
. 2022 Feb;
603(7899):124-130.
PMID: 35197626
A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein TDP-43 from the nucleus of neurons in the...
7.
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, et al.
EMBO Mol Med
. 2021 Nov;
13(12):e13787.
PMID: 34779586
BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin-5 for fusion of endoplasmic reticulum-derived vesicles with the ER-Golgi intermediate compartment (ERGIC) and the cis-Golgi. Here, we...
8.
Gudmundsson S, Karczewski K, Francioli L, Tiao G, Cummings B, Alfoldi J, et al.
Nature
. 2021 Aug;
597(7874):E3-E4.
PMID: 34373650
No abstract available.
9.
Waddell L, Bryen S, Cummings B, Bournazos A, Evesson F, Joshi H, et al.
Neurol Genet
. 2021 May;
7(1):e554.
PMID: 33977140
Objective: To describe the diagnostic utility of whole-genome sequencing and RNA studies in boys with suspected dystrophinopathy, for whom multiplex ligation-dependent probe amplification and exomic parallel sequencing failed to yield...
10.
Minikel E, Karczewski K, Martin H, Cummings B, Whiffin N, Rhodes D, et al.
Nature
. 2021 Feb;
590(7846):E56.
PMID: 33536628
No abstract available.