Meena Balasubramanian

Author

Sheffield Children's NHS Foundation Trust ORCID

Also Known As

Alison Stewart, Balasubramanian Meena, Balasubramanian, Meena, Chris Bennett, DDD Study, DDD study, Deciphering Developmental Disorders (DDD) Study, Duncan Baker, Jana Awada, M Balasubramanian

189

Publications

4.6K

Citations

H-Index

Concepts

All Affiliations

Sheffield Children's NHS Foundation Trust University of Sheffield University of Manchester University of Oxford University Hospital of Wales

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	20	641
2	Public Health	2	2	83
3	Engineering	1	1	16
4	Health Sciences	1	1	12
5	Natural Sciences	1	1	25

Meena Balasubramanian

Publications

2.3K

Citations

H-Index

Page 1

	Year	Citations
Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, American Journal of Medical Genetics Part A	2014	301
Quantifying the contribution of recessive coding variation to developmental disorders Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre, Science	2018	214
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, The American Journal of Human Genetics	2017	203
Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype Meena Balasubramanian, Kath Smith, Lina Basel‐Vanagaite, Journal of Medical Genetics	2011	133
Recommendations for whole genome sequencing in diagnostics for rare diseases Erika Souche, Sergi Beltrán, Erwin Brosens, European Journal of Human Genetics	2022	115
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyHeterozygous VariantsKmt2e CauseGenetics	2019	97
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms Caroline F. Wright, Nicholas M. Quaife, Laura Ramos-Hernández, The American Journal of Human Genetics Distinct Loss-of-function MechanismsMolecular NeuroscienceDevelopmental BiologyGenetic DisorderGenetics	2021	74
Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene, American Journal of Medical Genetics Part A	2018	73
Cohesin complex-associated holoprosencephaly Paul Kruszka, Seth Berger, Valentina Casà, Brain Corticobasal DegenerationGeneticsDisease Gene IdentificationEpigeneticsBrain Pathology	2019	61
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta Meena Balasubramanian, Jane A. Hurst, Stephen Brown, Bone Atypical Osteogenesis ImperfectaDevelopmental BiologyBone Morphogenic ProteinGenetic DisorderGenetics	2016	54

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