Concepedia

Meena Balasubramanian

MB

48

Publications

2.3K

Citations

25

H-Index

2010

Active since

Affiliations

Sheffield Children's NHS Foundation Trust(Current)

University of Sheffield

University of Manchester

University of Oxford

University Hospital of Wales

Meena Balasubramanian is an author at Sheffield Children's NHS Foundation Trust specializing in medicine, genetics, and developmental biology.

ORCID

Top concepts

Publications per year

2010–2025

48

Publications

48

Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst et al. · American Journal of Medical Genetics Part A · 2014 · 301 citations · Full text

Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre et al. · Science · 2018 · 214 citations · Full text

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 203 citations · Full text

Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype

Meena Balasubramanian, Kath Smith, Lina Basel‐Vanagaite et al. · Journal of Medical Genetics · 2011 · 133 citations · Full text

Recommendations for whole genome sequencing in diagnostics for rare diseases

Erika Souche, Sergi Beltrán, Erwin Brosens et al. · European Journal of Human Genetics · 2022 · 115 citations · Full text

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