Stephanie Duguez

Lecturer, School of Biomedical Sciences
Lecturer, Faculty Of Life & Health Sciences

https://orcid.org/0000-0001-6510-5426

Phone+442871675687
Emails.duguez@ulster.ac.uk

Northlands Road, Magee Campus
BT48 7JL Londonderry
United Kingdom

Source: Scopus
Calculated based on no. of publications stored in Pure and citations from Scopus

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920 Citations
18 h-Index
32 Article
6 Conference contribution
4 Review article
1 Chapter
More
- 1 Abstract
- 1 Editorial

Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function
Duddy, W. & Duguez, S., 20 May 2021, In: Journal of Personalized Medicine. 11, 5
Research output: Contribution to journal › Editorial

Open Access
File

1 Downloads (Pure)
A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS
Connolly, O., Le Gall, L., McCluskey, G., Donaghy, C., Duddy, W. & Duguez, S., 30 Sep 2020, In: Journal of Personalized Medicine. 10, 3, p. 1-27 27 p., 58.
Research output: Contribution to journal › Review article › peer-review

Open Access
File
6 Citations (Scopus)

11 Downloads (Pure)
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
Foley, R., Zou, Y., Dunford, J., Rooney, J., Chandra, G., Xiong, H., Straub, V., Voit, T., Romero, N., Donkervoort, S., Hu, Y., Markello, T., Horn, A., Qebibo, L., Dastgir, J., Meilleur, K., Finkel, R., Fan, Y., Mamchaoui, K., Duguez, S. & 14 others, Nelson, I., Laporte, J., Santi, M., Malfatti, E., Maisonobe, T., Touraine, P., Hirano, M., Hughes, I., Bushby, K., Oppermann, U., Bohm, J., Jaiswal, J., Stojkovic, T. & Bonnemann, C., 24 Jul 2020, In: Annals of Neurology. 88, 2, p. 332-347 16 p.
Research output: Contribution to journal › Article › peer-review

Open Access
File
5 Citations (Scopus)

13 Downloads (Pure)
Molecular and Cellular Mechanisms Affected in ALS
Le Gall, L., Anakor, E., Connolly, O., Vijayakumar, G., Duddy, W. & Duguez, S., 25 Aug 2020, In: Journal of Personalized Medicine. 10, 3, p. 1-34 34 p., 101.
Research output: Contribution to journal › Review article › peer-review

Open Access
File
7 Citations (Scopus)

5 Downloads (Pure)
MyoMiner: explore gene co-expression in normal and pathological muscle
Malatras, A., Michalopoulos, I., Duguez, S., Butler-Browne, G., Spuler, S. & Duddy, W., 11 May 2020, In: BMC Medical Genomics. 13, 16 p., 67 (2020).
Research output: Contribution to journal › Article › peer-review

Open Access
File
5 Downloads (Pure)

Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function

A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

Molecular and Cellular Mechanisms Affected in ALS

MyoMiner: explore gene co-expression in normal and pathological muscle