Author

Maheak Vora

Broad InstituteORCID 0009-0009-2645-4792Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:GWAS / association mapping· 3 Assay:GWAS summary statistics· 2 Research Focus:polygenic risk· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Josep Maria MercaderiD· 4 shared Alicia Huerta‐ChagoyaiD· 3 shared Alisa Knodle ManningiD· 3 shared Aaron LeongiD· 2 shared Adem Y. DawediD· 2 shared David A. van HeeliD· 2 shared David J. CareyiD· 2 shared Hilary C. MartiniD· 2 shared

Activity by Year

2024-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Josep Maria MercaderORCID

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4 papers

Recent·Most cited

Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants

Katie Taylor, Alicia Huerta‐Chagoya, Xiaoyu Wang, Maheak Vora, Jiang Li, Lehte Türk, Teng Hiang Heng, Joohyun Kim, Andrés Moreno‐Estrada, Teresa Tusié‐Luna, Carlos Alberto Aguilar-Salinas, Maggie C.Y. Ng, Hilary C. Martin, David A. van Heel, Alisa Knodle Manning, , Josep Maria Mercader

This paper improves type 2 diabetes polygenic risk scores by including rare and population-specific variants, showing better risk prediction in diverse populations.

medRxiv · Nov 24, 2025 · PreprintGenetic & Genomic Medicine

Common genetic variants near SLC2A2 and glycemic response to glimepiride in the GRADE comparative effectiveness clinical trial

Josephine H. Li, Łukasz Szczerbiński, Mark Tripputi, Haiyin Liu, Stella Nam, Endrina Mújica, Anastasia Emmanouilidou, Thinley Yidzin Wangden, Anna Citko, Paulina Konopka, Marcin Czajkowski, Alicia Huerta‐Chagoya, Maheak Vora, Aaron Leong, James B. Meigs, , José C. Florez

The paper identifies genetic variants near SLC2A2 that influence glycemic response to glimepiride in type 2 diabetes patients.

medRxiv · Oct 7, 2025 · PreprintGenetic & Genomic Medicine

An ancestry-enriched HNF4A variant and GP2 reveal distinct mechanisms of type 2 diabetes in exome-wide study of 13,674 cases and 41,024 controls

Sam Hodgson, Vi Bui, Siqi Hu, Cyrielle Maroteau, Margherita Bigossi, Alicia Huerta-Chagoya, Trang Nguyen, Adem Y. Dawed, Ryan Koesterer, Maheak Vora, Daniel Stow, Alice Williamson, Alexandra M. Blee, Julia Carrasco-Zanini Sanchez, Viswanathan Baskar, , Moneeza Kalhan Siddiqui

The paper identifies ancestry-specific T2D risk variants in South Asian populations through exome-wide association study and functional validation.

medRxiv · Sep 24, 2025 · PreprintGenetic & Genomic Medicine

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes

Alicia Huerta‐Chagoya, Philip H. Schroeder, Ravi Mandla, Jiang Li, Lowri Morris, Maheak Vora, Ahmed N. Alkanaq, Dorka Nagy, Łukasz Szczerbiński, Jesper Grud Skat Madsen, Sílvia Bonàs‐Guarch, Fanny Mollandin, Joanne B. Cole, Bianca Porneala, Kenneth E. Westerman, , Josep Maria Mercader

The paper conducts a large-scale rare variant GWAS meta-analysis of type 2 diabetes, identifying novel variants in monogenic diabetes genes and assessing their pathogenicity.

Nature Genetics · Oct 8, 2024Peer-reviewedGenetic & Genomic Medicine