Meena Balasubramanian

University of Sheffield

United Kingdom

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Research Interests

Biostatistics

40%

Cell Biology

40%

Medical Science

100%

Rare Disease

100%

Exome Sequencing

60%

Whole Exome Sequencing

40%

Neurodevelopment

40%

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Recent Grants

Grant: Close

Unravelling the role of NBAS in skeletal development: towards treatment for NBAS-related human phenotype

Open Date: 2021-09-01

Close Date: 2024-08-01

Grant: Close

Family Mapping in Hypophosphatasia

Open Date: 2021-08-01

Close Date: 2023-08-01

Grant: Close

Assessing Balance and Cost Determination Study

Open Date: 2018-01-01

Close Date: 2020-01-01

Grant: Close

High bone mass phenotypes in OI

Open Date: 2018-01-01

Close Date: 2020-06-01

Grant: Close

Phenotype based assays in Osteogenesis Imperfecta

Open Date: 2016-01-01

Close Date: 2020-08-01

Positions1

Meena Balasubramanian

University Name

University of Sheffield

NaN years ago

Medical Genetics and Genomic Medicine

No summary provided for this position.

NaN years ago

Articles25

Identifying the Impacts, Obstacles and Information Barriers for Parents of Children Living With Genetic Neurodevelopmental Disorders: A Qualitative Study

Article Link

Year:

2025

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

Article Link

Year:

2025

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

Article Link

Year:

2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

Article Link

Year:

2025

An international ASXL3 natural history study: deep phenotypic analyses including detailed reports of a milder phenotype, novel associations, and clinical recommendations

Article Link

Year:

2025

Family mapping of previously identified patients with pathogenic or likely pathogenic ALPL variants using predictive genotyping and detailed phenotyping approach: the FAME case-control study

Article Link

Year:

2025

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant inFGD1and management recommendations

Article Link

Year:

2025

Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed methods study exploring participant experiences of receiving secondary findings from genomic sequencing

Article Link

Year:

2025

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Article Link

Year:

2025

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

Article Link

Year:

2025

Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Article Link

Year:

2024

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Article Link

Year:

2024

ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism

Article Link

Year:

2024

Clinical and molecular characterization of patients with YWHAG‐related epilepsy

Article Link

Year:

2024

Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

Article Link

Year:

2023

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Article Link

Year:

2023

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

Article Link

Year:

2023

PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature

Article Link

Year:

2023

Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom: position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Article Link

Year:

2023

Expanding the phenotype of <scp>ASXL3</scp>‐related syndrome: a comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp>ASXL3</scp>. Am J Med Genet A. 2021;<scp>185A</scp>(11):3446–3458. Doi:10.1002/ajmg.a.62465″

Article Link

Year:

2023

Recommendations for whole genome sequencing in diagnostics for rare diseases

Article Link

Year:

2022

The Phenotypic Continuum of ATP1A3-Related Disorders

Article Link

Year:

2022

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Article Link

Year:

2022

Expanding the phenotype of TAB2 variants and literature review

Article Link

Year:

2022

Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review

Article Link

Year:

2022

Collaborators19

Joy Cogan

Research Professor

Vanderbilt University School of Medicine

UNITED STATES

Edward Tobias

University of Glasgow

UNITED KINGDOM

Raymond T O'Keefe

The University of Manchester

UNITED KINGDOM

Santosh Mordekar

Consultant Paediatric Neurologist / Honorary Senior Lecturer

UNITED KINGDOM

Nayana Lahiri

Honorary senior lecturer

St George’s, University of London

UNITED KINGDOM

Sally Ann Lynch

IRELAND

Jenny Ingram

University of Bristol

UNITED KINGDOM

Diana Baralle

UNITED KINGDOM

Himanshu Goel

University of Newcastle Australia

AUSTRALIA

KATHERINE LACHLAN

Honorary Senior Clinical Lecturer

University of Southampton

UNITED KINGDOM

Christian Gilissen

Professor of Genome Bioinformatics

Universitair Medisch Centrum Utrecht

NETHERLANDS

Allison Tam

UNITED STATES

George Tofaris

University of Oxford

UNITED KINGDOM

Laura Licchetta

University of Bologna

ITALY

Erwin Brosens

Erasmus University Rotterdam

NETHERLANDS

Siddharth Banka

The University of Manchester

UNITED KINGDOM

Dimitris Polychronopoulos

Chief Data Officer and co-founder

CureCollect

UNITED KINGDOM

Mariko Nakano-Okuno

The University of Alabama

UNITED STATES

Annelot Clementine Mathilda van Esbroeck

Assistant Professor

Erasmus MC

NETHERLANDS

How do I reach out?

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Meena Balasubramanian

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Research Interests

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Recent Grants

Positions1

Medical Genetics and Genomic Medicine

Articles25

Identifying the Impacts, Obstacles and Information Barriers for Parents of Children Living With Genetic Neurodevelopmental Disorders: A Qualitative Study

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

An international ASXL3 natural history study: deep phenotypic analyses including detailed reports of a milder phenotype, novel associations, and clinical recommendations

Family mapping of previously identified patients with pathogenic or likely pathogenic ALPL variants using predictive genotyping and detailed phenotyping approach: the FAME case-control study

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in<i>FGD1</i>and management recommendations

Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed methods study exploring participant experiences of receiving secondary findings from genomic sequencing

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism

Clinical and molecular characterization of patients with YWHAG‐related epilepsy

Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature

Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom: position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: a comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>. Am J Med Genet A. 2021;<scp>185A</scp>(11):3446–3458. Doi:10.1002/ajmg.a.62465″

Recommendations for whole genome sequencing in diagnostics for rare diseases

The Phenotypic Continuum of ATP1A3-Related Disorders

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Expanding the phenotype of TAB2 variants and literature review

Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review

Collaborators19

Joy Cogan

Edward Tobias

Raymond T O'Keefe

Santosh Mordekar

Nayana Lahiri

Sally Ann Lynch

Jenny Ingram

Diana Baralle

Himanshu Goel

KATHERINE LACHLAN

Christian Gilissen

Allison Tam

George Tofaris

Laura Licchetta

Erwin Brosens

Siddharth Banka

Dimitris Polychronopoulos

Mariko Nakano-Okuno

Annelot Clementine Mathilda van Esbroeck

How do I reach out?