Author

Hina Ayesha

Punjab Medical College

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amélie BonnefondiD· 1 shared Anna‐Maria SiegertiD· 1 shared Anthony Peter GoldstoneiD· 1 shared Bénédicte Toussaint· 1 shared Brian LamiD· 1 shared Emmanuel Buse Falay· 1 shared Emmanuel Vaillant· 1 shared Giles S.H. YeoiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amélie BonnefondORCID

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1 paper

Recent·Most cited

Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a novel Prader-Willi-like syndrome

Sadia Saeed, Anna‐Maria Siegert, Y. C. Loraine Tung, Roohia Khanam, Qasim M. Janjua, Jaida Manzoor, Mehdi Derhourhi, Bénédicte Toussaint, Brian Lam, Sherine Awad Mahmoud, Emmanuel Vaillant, Emmanuel Buse Falay, Souhila Amanzougarene, Hina Ayesha, Waqas Imran Khan, , Giles S.H. Yeo

This study identifies biallelic SREK1 variants causing a Prader-Willi-like syndrome with obesity and hypotonia in consanguineous children.

medRxiv · Feb 26, 2025 · PreprintGenetic & Genomic Medicine