Professor Meena Balasubramanian

MBBS, DCH, FRCPCH, MD, FHEA

School of Medicine and Population Health

Professor of of Medical Genetics and Genomic Medicine

Clinical Director for Research, Sheffield Childrens Hospital NHS Foundation Trust.

Executive Director, SCYPHeR (Sheffield Children and Young People Health Research) Initiative.

Honorary Consultant Clinical Geneticist; Sheffield Childrens NHS Foundation Trust.

NIHR RDN Children's Speciality Lead, Yorkshire and Humber Region.

NIHR Clinical Academic Training Lead- Genomic Medicine, University of Sheffield.

Lead Consultant Bone Geneticist for the nationally-commissioned Osteogenesis Imperfecta service in England.

MED - Meena Balasubramanian — Dr Meena Balasubramanian

m.balasubramanian@sheffield.ac.uk
+44 114 215 9008

+44 114 271 7025 (Secretary)

D39, Firth Court

Full contact details

Professor Meena Balasubramanian
School of Medicine and Population Health
D39
Firth Court
Western Bank
Sheffield
S10 2TN

Profile

For enquiries please contact - SMPH-West-Operational@sheffield.ac.uk

Rare diseases affect over 3.5 million people in the UK and recent medical advances have provided the means to generate diagnoses for several rare diseases that have been studied to-date but have no treatment. Importantly, a large proportion of these diseases are caused by specific alterations in the genetic building blocks or DNA of affected patients. I am a Clinician Scientist and Academic Clinical Geneticist who combines clinical insights into rare diseases with excellent science on in vivo and in vitro modelling, capitalising on key strengths I have gained through my career to-date, providing a direct link to translational medicine and the independence to pursue my vision of transforming care provided for rare disease patients.

My current research programme has the following themes:

Enabling early confirmatory diagnosis through mining genomics data and functional characterisation of novel rare disease genes.
Understanding disease mechanism through cell-based and animal modelling.
Natural history studies with the focus on pulling together ‘trial-ready’ cohorts of rare disease patients with emphasis on advanced gene-directed therapies.

I hold a joint position with Sheffield Children’s Hospital which is only one of three dedicated children’s hospital in the UK. I care for children and adults with rare genetic disorders. I am also the Research Director for Sheffield Children’s Hospital.

Current PhD Opportunities:

Developing targeted treatments for HNRNPU-related neurodevelopmental disorder using drug repurposing strategies.

PhD applications invited.

Qualifications

06/2023 Fellow of Health Education Academy, Advance HE (FHEA)

10/2016 Fellow of RCPCH: Nominated by Royal College of Paediatric and Child Health (FRCPCH)

12/2012 MD (Doctor in Medicine), Dept of Human Metabolism, University of Sheffield on Osteogenesis Imperfecta

07/2007 Member of Royal College of Paediatric and Child Health (MRCPCH)

06/2004 Diploma in Child Health, Royal College of Paediatrics and Child Health (DCH)

06/2002 Bachelor in Medicine and Bachelor in Surgery (MBBS)

Research interests

My group’s main areas of research currently are in,

Rare bone genetics (NBAS therapy; Novel gene discovery in OI; OI gene therapy; Hypophosphatasia).

Rare neurodevelopmental disorders (Undiagnosed genetic disorders; HNRNPU and ASXL3-related disorder).

Rare bone genetics

1. NBAS Therapy: During studies to identify genes associated with rare osteogenesis imperfecta (OI) phenotypes, we discovered that the same mutations in NBAS (Neuroblastoma Amplified Sequence) known to be associated with acute liver failure in infants were responsible for skeletal abnormalities in patients with OI. This work was published as a novel cause of bone fragility. This discovery provided me the opportunity to use tractable animal (zebrafish) research to advance understanding of the mechanisms by which NBAS exerts its effects, having generated zebrafish models that accurately mimic human disease in order to identify potential new treatments.

2. Novel gene discovery in OI and understanding disease mechanism for non-collagen OI genes: This is a long-standing research interest of mine focused on mining genomics data for new gene discovery working alongside diagnostic colleagues from 100,000 Genomes project for which I lead the bone fragility domain as GeCIP lead and NHS whole genome sequencing. This has led me to identify novel OI genes which are being worked up. An additional area is genes linking brain and bone disease such as Sodium Channelopathies, spermine synthase and SETD5 which I am exploring the causal link and why these disorders cause a bone phenotype.

3. OI Gene therapy: We are working towards developing phenotypic assays to facilitate molecular and cellular characterisation of OI phenotype using iPSC cell lines. We hypothesise that access to disease-relevant cells with patient-specific variants will provide the most representative models of OI, thus allowing us to set up reliable assays for therapeutic discovery. We are deriving iPSCs from our existing banks of OI patients’ fibroblasts and differentiating these into osteoblasts. We plan to set up a phenotypic assay as a proof-of-principle for future high-throughput drug discovery efforts and in-depth mechanistic studies.

4. Family mapping in Hypophosphatasia (FAME Study): The aim of this study is to detect additional symptomatic and asymptomatic HPP patients within affected families, in order to establish a cohort of HPP patients using family mapping and predictive genotyping approach. In addition, we also want to examine the relationship between a pathogenic variant in ALPL and musculoskeletal symptoms and other aspects of general health status.

Genomic Medicine

1. Undiagnosed Genetic Disorders and functional studies This involves mining genomics data for rare phenotypic presentations and discovering candidate genes for novel neurodevelopmental and congenital disorders and identifying additional international patients through interrogation of worldwide genomic datasets using Genematcher and Matchmaker exchange programmes; undertaking functional studies for publication of a novel genes.

2. HNRNPU-related disorder HNRNPU-related disorder is a neurodevelopmental disorder characterised by heterozygous, de novo, loss-of-function variants in HNRNPU. Patients with pathogenic variants in HNRNPU present with seizures, global developmental delay, early onset epilepsy, hypotonia, autistic features, and a variety of anatomical abnormalities and intellectual disability. My group has published the largest HNRNPU patient cohort (Yates et al., 2017; Durkin et al., 2021; Taylor et al., 2022) and now working to understand underlying disease mechanism and engineer therapeutic interventions for HNRNPU syndrome. Knowledge gained from this can act as a model for similar loss-of-function RNDDs and establish Sheffield as a pioneer for this therapeutic approach. We now have a natural history study focused on longitudinal clinical data and sample collection for HNRNPU. We also published a Genereview chapter on clinical diagnosis and management of HNRNPU (Balasubramanian., 2022). Working with ‘Unique’ rare disease patient support group, we have published a patient guide for HNRNPU-related disorder.

3. ASLX3-related disorder, also referred to as Bainbridge-Ropers syndrome, is characterised by developmental delay and intellectual disability caused by heterozygous, de novo pathogenic variants in ASXL3 (Additional Sex Combs-Like 3). Over the last 5 years, my group has published most of the literature on this condition (Balasubramanian et al., 2017; Myers et al., 2018; Schirwani et al., 2019; Schirwani et al., 2021) and published a Genereview chapter on clinical diagnosis and management of the condition (Balasubramanian., 2020). Working with ‘Unique’ rare disease patient support group, we have published a patient guide for ASXL3. We now have a natural history study focused on longitudinal clinical data and sample collection for ASXL3.

Publications

Show: Featured publications All publications

Featured publications

Journal articles

Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Nemeth AH, Tofaris GK, Hay E , Hughes I et al (2022) The phenotypic continuum of ATPLA3-related disorders. Neurology, 99(14).
Taylor J, Spiller M, Ranguin K, Vitobello A, Philippe C, Bruel A, Cappuccio G, Brunetti‐Pierri N, Willems M, Isidor B , Park K et al (2022) Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. American Journal of Medical Genetics Part A. View this article in WRRO
Thornley P, Bishop N, Baker D, Brock J, Arundel P, Burren C, Smithson S, DeVile C, Crowe B, Allgrove J , Saraff V et al (2021) Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study. Archives of Disease in Childhood. View this article in WRRO
Durkin A, DeVile C, Arundel P, Bull M, Walsh J, Bishop NJ, Hupin E, Parekh S, Nadarajah R, Offiah AC , Calder A et al (2021) Expanding the phenotype of SPARC-related osteogenesis imperfecta : clinical findings in two patients with pathogenic variants in SPARC and literature review. Journal of Medical Genetics. View this article in WRRO
Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N , Reid E et al (2021) Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.. American Journal of Medical Genetics Part A, 185(11), 3446-3458. View this article in WRRO
Lenz D, Pahl J, Hauck F, Alameer S, Balasubramanian M, Baric I, Boy N, Church JA, Crushell E, Dick A , Distelmaier F et al (2021) NBAS variants are associated with quantitative and qualitative NK and B cell deficiency. Journal of Clinical Immunology, 41(8), 1781-1793. View this article in WRRO
Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB , Fry AE et al (2021) Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29(4), 625-636. View this article in WRRO
Durkin A, Albaba S, Fry AE, Morton JE, Douglas A, Beleza A, Williams D, Volker‐Touw CML, Lynch SA, Canham N , Clowes V et al (2020) Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. American Journal of Medical Genetics Part A, 182(7), 1637-1654. View this article in WRRO
Balasubramanian M, Padidela R, Pollitt RC, Bishop NJ, Mughal MZ, Offiah AC, Wagner BE, McCaughey J & Stephens DJ (2018) P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics, 55(3), 158-165. View this article in WRRO
Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF , Shackley F et al (2017) Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.. BONE, 94, 65-74. View this article in WRRO
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS , Bowen J et al (2016) Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.. Journal of Medical Genetics. View this article in WRRO
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW , Foulds N et al (2015) Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 47(11), 1363-1369. View this article in WRRO

Chapters

Balasubramanian M & Schirwani S (2020) ASXL3-Related Disorder
Balasubramanian M (2017) Clinical and molecular heterogeneity of osteogenesis imperfecta (pp. 1-63). Morgan and Claypool View this article in WRRO
Balasubramanian M, Cohen MC & Scheimberg I () Is this a syndrome? Patterns in genetic conditions, The Pediatric and Perinatal Autopsy Manual (pp. 105-119). Cambridge University Press

All publications

Journal articles

Stafford-Smith B, Daniel M, Peter M, Gurasashvili J, Baptiste R, Bracke-Manzanares X, Georgiou L, Green-Armytage A, Griffin B, Lumborg B , Paternoster B et al (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. Genetics in Medicine, 101446-101446.
Hodgson AKO, Baxandall L, Aiyedun D, Li A, Au PYB, Bain JM, Gillentine MA, Goel H, Kline AD, Ricupero CL , Sánchez-Carpintero R et al (2025) Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.. Am J Med Genet A, e64013.
Gillentine M, Hansen A, Da Silva C, Phillips L, Maricic SP, Beaudet A, Murias K, Hallgrimsson B, Balasubramanian M, Bain J , Kline A et al (2025) P263: HNRNP-related neurodevelopmental disorders: Expanding knowledge of known conditions and prompting novel studies into candidate genes. Genetics in Medicine Open, 3, 102228-102228.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park S-M, Mendes AC, Saraiva JM , Hammer TB et al (2024) Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. Genetics in Medicine, 101348-101348.
Stafford-Smith B, Gurasashvili J, Peter M, Daniel M, Balasubramanian M, Bownass L, Brennan P, Cleaver R, Clowes V, Costello P , DeSouza B et al (2024) “I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project. European Journal of Human Genetics, 1-10.
Shafiq T, Feng JL, Phillips L, Murias K, Ferguson M, Baranano K, Acchione A, Kipkemoi P, Kipkoech C, Chepkemoi E , Abubakar A et al (2024) An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder. Rare, 2, 100052-100052.
Copeland H, Low KJ, Wynn SL, Ahmed A, Arthur V, Balasubramanian M, Bennett K, Berg J, Bertoli M, Bryson L , Bucknall C et al (2024) Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders. Genetics in Medicine Open, 101864-101864.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R , de Boer E et al (2024) Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. The American Journal of Human Genetics.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier J-M, Ji W, Ionita C, Roy B, Morrow JS , Darbinyan A et al (2024) Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genetics in Medicine, 26(2), 101023-101023.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M , Bain J et al (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110(8), 1414-1435.
Apperley LJ, Albaba S, Dharmaraj P & Balasubramanian M (2023) PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature. Clinical Dysmorphology, 32(1), 43-47.
(2023) Expanding the phenotype of ASXL3‐related syndrome: a comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Am J Med Genet A. 2021;185A(11):3446–3458. Doi:10.1002/ajmg.a.62465″. American Journal of Medical Genetics Part A, 191(1), 310-310.
Middleton A, Taverner N, Houghton C, Smithson S, Balasubramanian M & Elmslie F (2022) 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.. European Journal of Human Genetics.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M , Pottie L et al (2022) EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. The American Journal of Human Genetics.
Sabanathan S, Gulhane D, Mankad K, Davison J, Ong MT, Phadke R, Robinson R, Spiller M, Wakeling E, Ramdas S , Brady AF et al (2022) Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review. Neuromuscular Disorders.
Schirwani S, Woods E, Koolen DA, Ockeloen CW, Lynch SA, Kavanagh K, Graham JM, Grand K, Pierson TM, Chung JM & Balasubramanian M (2022) Familial Bainbridge-Ropers syndrome: report of familial ASXL3 inheritance and a milder phenotype. American Journal of Medical Genetics Part A.
Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J , Kanani F et al (2022) Expanding the phenotype of TAB2 variants and literature review. American Journal of Medical Genetics Part A.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Nemeth AH, Tofaris GK, Hay E , Hughes I et al (2022) The phenotypic continuum of ATPLA3-related disorders. Neurology, 99(14).
McMahon MH, Tahir N & Balasubramanian M (2022) GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations. BMJ Case Reports, 15(6).
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M , Clayton-Smith J et al (2022) Recommendations for whole genome sequencing in diagnostics for rare diseases. European Journal of Human Genetics.
Taylor J & Balasubramanian M (2022) First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?. BMJ Case Reports, 15(3).
Woods E, Yates M, Kanani F & Balasubramanian M (2022) Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata. Clinical Dysmorphology.
Natalie B, Michael S & Meena B (2022) Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD : case report and literature review. European Journal of Medical Genetics, 65(4). View this article in WRRO
Taylor J, Spiller M, Ranguin K, Vitobello A, Philippe C, Bruel A, Cappuccio G, Brunetti‐Pierri N, Willems M, Isidor B , Park K et al (2022) Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. American Journal of Medical Genetics Part A. View this article in WRRO
Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton‐Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R , Johnson DS et al (2022) Further delineation of phenotypic spectrum of SCN2A ‐related disorder. American Journal of Medical Genetics Part A, 188(3), 867-877.
Woods E, Spiller M & Balasubramanian M (2022) Report of two children with global developmental delay in association with de novo TLK2 variant and literature review. American Journal of Medical Genetics Part A, 188(3), 931-940.
Campanini EH, Baker D, Arundel P, Bishop NJ, Offiah AC, Keigwin S, Cadden S, Dall'Ara E, Nicolaou N, Giles S , Fernandes JA et al (2021) High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1. Bone Reports, 15. View this article in WRRO
Thornley P, Bishop N, Baker D, Brock J, Arundel P, Burren C, Smithson S, DeVile C, Crowe B, Allgrove J , Saraff V et al (2021) Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study. Archives of Disease in Childhood. View this article in WRRO
Javaid MK, Mordenti M, Boarini M, Sangiorgi L, Westerheim I, Alves I, Skarberg RT, Appelman-Dijkstra NM & Grasemann C (2021) Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions. Orphanet Journal of Rare Diseases, 16(1). View this article in WRRO
Redman MG, Wagner BE, Cadden S, Baker D, Bowen JM, Johnson D, Sobey G & Balasubramanian M (2021) Rough endoplasmic reticulum expansion : a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta. Ultrastructural Pathology, 45(6), 414-420. View this article in WRRO
Durkin A, DeVile C, Arundel P, Bull M, Walsh J, Bishop NJ, Hupin E, Parekh S, Nadarajah R, Offiah AC , Calder A et al (2021) Expanding the phenotype of SPARC-related osteogenesis imperfecta : clinical findings in two patients with pathogenic variants in SPARC and literature review. Journal of Medical Genetics. View this article in WRRO
Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N , Reid E et al (2021) Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.. American Journal of Medical Genetics Part A, 185(11), 3446-3458. View this article in WRRO
Lenz D, Pahl J, Hauck F, Alameer S, Balasubramanian M, Baric I, Boy N, Church JA, Crushell E, Dick A , Distelmaier F et al (2021) NBAS variants are associated with quantitative and qualitative NK and B cell deficiency. Journal of Clinical Immunology, 41(8), 1781-1793. View this article in WRRO
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch Andersen C, Balasubramanian M , Bai R et al (2021) ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clinical Genetics, 100(4), 412-429. View this article in WRRO
Anderson E, Lam Z, Arundel P, Parker M & Balasubramanian M (2021) Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility. Clinical Genetics, 100(3), 352-354. View this article in WRRO
Wright CF, Quaife NM, Ramos-Hernández L, Danecek P, Ferla MP, Samocha KE, Kaplanis J, Gardner EJ, Eberhardt RY, Chao KR , Karczewski KJ et al (2021) Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.. American Journal of Human Genetics, 108(6), 1083-1094. View this article in WRRO
Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano‐Ozog K, Martinez‐Monseny A, Curry CJ, Graham JM, Velsher L, Bekheirnia MR , Seidel V et al (2021) Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clinical Genetics, 99(4), 547-557. View this article in WRRO
Desborough R, Nicklin P, Gossiel F, Balasubramanian M, Walsh JS, Petryk A, Teynor M & Eastell R (2021) Clinical and biochemical characteristics of adults with hypophosphatasia attending a metabolic bone clinic. Bone, 144. View this article in WRRO
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK , Gallone G et al (2021) The contribution of X-linked coding variation to severe developmental disorders. Nature Communications, 12. View this article in WRRO
Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB , Fry AE et al (2021) Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29(4), 625-636. View this article in WRRO
Redman MG, Wagner BE & Balasubramanian M (2020) Osteogenesis Imperfecta type I : the role of deep phenotyping in a patient with a ruptured uterus. European Journal of Medical Genetics, 63(12). View this article in WRRO
Yates TM, Campeau PM, Ghoumid J, Kibaek M, Larsen MJ, Smol T, Albaba S, Hertz JM & Balasubramanian M (2020) Biallelic variants in GLE1 with survival beyond neonatal period. Clinical Genetics, 98(6), 622-625. View this article in WRRO
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF , Short PJ et al (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), 757-762. View this article in WRRO
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S , Lattanzi W et al (2020) SMAD6 variants in craniosynostosis : genotype and phenotype evaluation. Genetics in Medicine, 22(9), 1498-1506. View this article in WRRO
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S , Lattanzi W et al (2020) Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. Genetics in Medicine, 22(9), 1567-1567.
Apperley LJ, Richmond S, Ramakrishnan R & Balasubramanian M (2020) Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis. Clinical Dysmorphology, 29(3), 155-157. View this article in WRRO
Durkin A, Albaba S, Fry AE, Morton JE, Douglas A, Beleza A, Williams D, Volker‐Touw CML, Lynch SA, Canham N , Clowes V et al (2020) Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. American Journal of Medical Genetics Part A, 182(7), 1637-1654. View this article in WRRO
Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S , Thomas NS et al (2020) Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance. Genetics in Medicine, 22(6), 1129-1129.
Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S , Thomas NS et al (2020) Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance. Genetics in Medicine, 22(6), 1005-1014. View this article in WRRO
Schirwani S, Hauser N, Platt A, Punj S, Prescott K, Canham N, study DDD, Mansour S & Balasubramanian M (2020) Mosaicism in ASXL3-related syndrome : description of five patients from three families. European Journal of Medical Genetics, 63(6). View this article in WRRO
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, Driscoll MO, Charles P, Cox H , Marey I et al (2020) ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Human Mutation, 41(5), 1042-1050. View this article in WRRO
Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard A-M, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T , Maas SM et al (2020) Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Human Genetics, 139, 575-592. View this article in WRRO
Kanani F, Titheradge H, Cooper N, Elmslie F, Lees MM, Juusola J, Pisani L, McKenna C, Mignot C, Valence S , Keren B et al (2020) Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy. American Journal of Medical Genetics Part A, 182(4), 713-720. View this article in WRRO
Lam Z, Albaba S, Study DDD & Balasubramanian M (2020) Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. Clinical Dysmorphology, 29(1), 10-16. View this article in WRRO
Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E , Brookler K et al (2020) Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. American Journal of Medical Genetics Part A, 182(4), 697-704.
Balasubramanian M, Hobson E, Skae M, McCaughey J & Stephens DJ (2019) Developing pathways to clarify pathogenicity of unclassified variants in osteogenesis imperfecta genetic analysis. Molecular Genetics & Genomic Medicine, 7(12). View this article in WRRO
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ , Steeves MA et al (2019) Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 10(1).
Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S , Splitt M et al (2019) Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105(5), 933-946. View this article in WRRO
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ , Lichty AW et al (2019) Cohesin complex-associated holoprosencephaly. Brain, 142(9), 2631-2643. View this article in WRRO
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V , Vargas M et al (2019) Mutation update for the SATB2 gene.. Human Mutation, 40(8), 1013-1029. View this article in WRRO
Kanani F, Mordekar S, Parker MJ, Study DDD & Balasubramanian M (2019) Dual diagnosis causing severe phenotype in a patient with Angelman syndrome.. Clinical Dysmorphology, 28(3), 158-161. View this article in WRRO
O’Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM , Azzarello-Burri S et al (2019) Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. The American Journal of Human Genetics, 104(6), 1210-1222.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL , Pressler RM et al (2019) Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. The American Journal of Human Genetics, 104(5), 948-956.
Balasubramanian M, Verschueren A, Kleevens S, Luyckx I, Perik M, Schirwani S, Mortier G, Morisaki H, Rodrigus I, Van Laer L , Verstraeten A et al (2019) Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. Bone, 121, 191-195. View this article in WRRO
Radley JA, O'Sullivan RBG, Turton SE, Cox H, Vogt J, Morton J, Jones E, Smithson S, Lachlan K, Rankin J , Clayton‐Smith J et al (2019) Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. Clinical Genetics, 95(4), 496-506. View this article in WRRO
Schirwani S, McConnell V, Willoughby J & Balasubramanian M (2019) Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?. Gene, 685, 50-54. View this article in WRRO
Balasubramanian M & Johnson DS (2019) MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. European Journal of Medical Genetics, 62(2), 109-114. View this article in WRRO
Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M , McRae JF et al (2018) Quantifying the contribution of recessive coding variation to developmental disorders. Science, 362(6419), 1161-1164. View this article in WRRO
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ , Steeves MA et al (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9(1). View this article in WRRO
Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M & Scheffer IE (2018) Corrigendum to “Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome” [Epilepsy Res. 140 (2018) 166–170]. Epilepsy Research, 147, 121-121. View this article in WRRO
Kanani F, Study DDD & Balasubramanian M (2018) SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature. Clinical Dysmorphology, 27(4), 113-115. View this article in WRRO
Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M & Gillett GT (2018) Response to Finsterer: CPT-II deficiency needs to be detected in army personnel. Molecular Genetics and Metabolism Reports, 16, 12-12. View this article in WRRO
Yates TM, Suri M, Desurkar A, Lesca G, Wallgren-Pettersson C, Hammer TB, Raghavan A, Poulat AL, Møller RS, Thuresson AC & Balasubramanian M (2018) SLC35A2-related congenital disorder of glycosylation: Defining the phenotype. European Journal of Paediatric Neurology. View this article in WRRO
Balasubramanian M, Fratzl‐Zelman N, O'Sullivan R, Bull M, FA Peel N, Pollitt RC, Jones R, Milne E, Smith K, Roschger P , Klaushofer K et al (2018) Novel PLS3 variants in X‐linked osteoporosis : exploring bone material properties. American Journal of Medical Genetics Part A, 176(7), 1578-1586. View this article in WRRO
Balasubramanian M, Jones R, Milne E, Marshall C, Arundel P, Smith K & Bishop NJ (2018) Autism and heritable bone fragility: A true association?. Bone Reports, 8, 156-162. View this article in WRRO
Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M & Gillett GT (2018) Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt. Molecular Genetics and Metabolism Reports, 15, 69-70. View this article in WRRO
Willoughby J, Duff‐Farrier C, Desurkar A, Kurian M, Raghavan A & Balasubramanian M (2018) Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. American Journal of Medical Genetics Part A, 176(5), 1049-1054. View this article in WRRO
Schirwani S, Wakeling E, Smith K & Balasubramanian M (2018) Expanding the molecular basis and phenotypic spectrum of ZDHHC9 ‐associated X‐linked intellectual disability. American Journal of Medical Genetics Part A, 176(5), 1238-1244. View this article in WRRO
Zarate YA, Smith‐Hicks CL, Greene C, Abbott M, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J , Bosanko K et al (2018) Cover Image, Volume 176A, Number 4, April 2018. American Journal of Medical Genetics Part A, 176(4).
Balasubramanian M, Padidela R, Pollitt RC, Bishop NJ, Mughal MZ, Offiah AC, Wagner BE, McCaughey J & Stephens DJ (2018) P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics, 55(3), 158-165. View this article in WRRO
Zarate YA, Smith‐Hicks CL, Greene C, Abbott M, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J , Bosanko K et al (2018) Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome. American Journal of Medical Genetics Part A, 176(4), 925-935. View this article in WRRO
Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M & Scheffer IE (2018) Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. Epilepsy Research, 140, 166-170. View this article in WRRO
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H , Horton R et al (2018) Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. The American Journal of Human Genetics, 102(1), 175-187. View this article in WRRO
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao M-C, Chen Z, Balasubramanian M, Barnett CP , Becker TA et al (2018) Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848. The American Journal of Human Genetics, 102(1), 69-87. View this article in WRRO
Low T, Kostakis A & Balasubramanian M (2018) Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. Ophthalmic Genetics, 39(2), 286-287. View this article in WRRO
Schirwani S, Smith K & Balasubramanian M (2017) Clinical and molecular characterization of the first familial report of 1p32 microdeletion. Clinical Dysmorphology. View this article in WRRO
Green C, Willoughby J, Balasubramanian M & Study DDD (2017) De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus. American Journal of Medical Genetics Part A, 173(12), 3165-3171. View this article in WRRO
Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J & Balasubramanian M (2017) De novo mutations in HNRNPU result in a neurodevelopmental syndrome. American Journal of Medical Genetics Part A, 173(11), 3003-3012. View this article in WRRO
Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA, Mandelstam S, Wirrell E, Nickels KC , Murali HR et al (2017) Not all SCN1A epileptic encephalopathies are Dravet syndrome. Neurology, 89(10), 1035-1042. View this article in WRRO
Jewell R, Sarkar A, Jones R, Wilkinson A, Martin K, Arundel P & Balasubramanian M (2017) Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1.. Clin Dysmorphol. View this article in WRRO
Webb EA, Balasubramanian M, Fratzl-Zelman N, Cabral WA, Titheradge H, Alsaedi A, Saraff V, Vogt J, Cole T, Stewart S , Crabtree NJ et al (2017) Phenotypic spectrum in osteogenesis imperfecta due to mutations in TMEM38B: unravelling a complex cellular defect. Journal of Clinical Endocrinology and Metabolism. View this article in WRRO
McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M , Ambridge K et al (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542(7642), 433-438. View this article in WRRO
Cartwright A, Smith K & Balasubramanian M (2017) Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy. Clinical Dysmorphology, 26(1), 38-40. View this article in WRRO
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W , Pilz D et al (2017) Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.. Journal of Medical Genetics. View this article in WRRO
Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF , Shackley F et al (2017) Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.. BONE, 94, 65-74. View this article in WRRO
Marshall C, Lopez J, Crookes L, Pollitt RC & Balasubramanian M (2016) A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. Gene, 595(1), 49-52. View this article in WRRO
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS , Bowen J et al (2016) Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.. Journal of Medical Genetics. View this article in WRRO
Pollitt RC, Saraff V, Dalton A, Webb EA, Shaw NJ, Sobey GJ, Mughal MZ, Hobson E, Ali F, Bishop NJ , Arundel P et al (2016) Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.. Am J Med Genet A. View this article in WRRO
Marshall CJ, Arundel P, Mushtaq T, Offiah AC, Pollitt RC, Bishop NJ & Balasubramanian M (2016) Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.. Am J Med Genet A. View this article in WRRO
Dimitri P, De Franco E, Habeb AM, Gurbuz F, Moussa K, Taha D, Wales JKH, Hogue J, Slavotinek A, Shetty A & Balasubramanian M (2016) An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 ( GLIS3 ). American Journal of Medical Genetics Part A, 170(7), 1918-1923. View this article in WRRO
Balasubramanian M, Sobey GJ, Wagner BE, Peres LC, Bowen J, Bexon J, Javaid MK, Arundel P & Bishop NJ (2016) Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation. Ultrastructural Pathology, 40(2), 71-76. View this article in WRRO
He Y, Balasubramanian M, Humphreys N, Waruiru C, Brauner M, Kohlhase J, O'Reilly R & Has C (2016) Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa. Journal of Investigative Dermatology, 136(5), 1056-1059.
Balasubramanian M, Sithambaram S & Smith K (2016) Inherited duplication of the short arm of chromosome 18p11.32–p11.31 associated with developmental delay/intellectual disability. Clinical Dysmorphology, 25(1), 19-22.
Balasubramanian M, Cartwright A, Smith K, Arundel P & Bishop NJ (2016) Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta. American Journal of Medical Genetics Part A, 170(2), 476-481.
Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M , Alibeu O et al (2015) Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. Nature Neuroscience, 18(12), 1731-1736.
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW , Foulds N et al (2015) Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 47(11), 1363-1369. View this article in WRRO
Grozeva D, Carss K, Spasic‐Boskovic O, Tejada M, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K , Hussain Z et al (2015) Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. Human Mutation, 36(12), 1197-1204. View this article in WRRO
Akilapa RS, Smith K & Balasubramanian M (2015) Clinical report. Clinical Dysmorphology, 24(4), 151-155.
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T , Bevan AP et al (2015) Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. The Lancet, 385(9975), 1305-1314.
Balasubramanian M, Wagner BE, Peres LC, Sobey GJ, Parker MJ, Dalton A, Arundel P & Bishop NJ (2015) Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta. Clinical Dysmorphology, 24(2), 45-54.
Balasubramanian M, Atack E, Smith K & Parker MJ (2015) A novel de novo 20q13.32–q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass. Journal of Human Genetics, 60(6), 313-317.
Balasubramanian M, Pollitt RC, Chandler KE, Mughal MZ, Parker MJ, Dalton A, Arundel P, Offiah AC & Bishop NJ (2015) CRTAPmutation in a patient with Cole-Carpenter syndrome. American Journal of Medical Genetics Part A, 167(3), 587-591.
(2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519(7542), 223-228. View this article in WRRO
Balasubramanian M & Peres LC (2014) Short Sternum: Feature of Trisomy Chromosome 7 and a New Association?. Pediatric and Developmental Pathology, 17(1), 70-72.
Keppler‐Noreuil KM, Sapp JC, Lindhurst MJ, Parker VER, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E , Grant I et al (2014) Clinical delineation and natural history of the PIK3CA ‐related overgrowth spectrum. American Journal of Medical Genetics Part A, 164(7), 1713-1733. View this article in WRRO
Balasubramanian M, Shearing E, Smith K, Chavasse R, Taylor R, Tatton-Brown K, Primhak R, Ugonna K & Parker MJ (2014) Pneumothorax from subpleural blebs-A new association of sotos syndrome?. American Journal of Medical Genetics Part A, 164(5), 1222-1226.
Atack E, Fairtlough H, Smith K & Balasubramanian M (2014) A Novel (Paternally Inherited) Duplication 13q31.3q32.3 in a 12-Year-Old Patient with Facial Dysmorphism and Developmental Delay. Molecular Syndromology. View this article in WRRO
Balasubramanian M, Sayers R & Martindale J (2014) Congenital myotonic dystrophy. Clinical Dysmorphology, 23(4), 127-129.
Balasubramanian M, Jain V, Glover RC, Robertson LK & Mordekar SR (2013) Cerebral cavernous malformation: Clinical report of two families with variable phenotype associated with KRIT1 mutation. European Journal of Paediatric Neurology, 17(6), 661-665.
Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK & Mackay DJG (2013) Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. American Journal of Medical Genetics Part A, 161(9), 2174-2182.
Balasubramanian M, Parker MJ, Dalton A, Giunta C, Lindert U, Peres LC, Wagner BE, Arundel P, Offiah A & Bishop NJ (2013) Genotype–phenotype study in type V osteogenesis imperfecta. Clinical Dysmorphology, 22(3), 93-101.
Balasubramanian M, Bourke S, Crawford N & Cohen MC (2012) Pattern of Clinical Genetics Referral Following Perinatal Postmortems. Pediatric and Developmental Pathology, 15(6), 478-486.
Parker MJ, Deshpande C, Rankin J, Wilson LC, Balasubramanian M, Hall CM, Wagner BE, Pollitt R, Dalton A & Bishop NJ (2011) Type 1 collagenopathy presenting with a Russell-Silver phenotype. American Journal of Medical Genetics Part A, 155(6), 1414-1418.
Balasubramanian M, Smith K, Mordekar SR & Parker MJ (2011) Clinical report: An interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms. European Journal of Medical Genetics, 54(3), 314-318.
Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ , Friedman N et al (2011) Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. Journal of Medical Genetics, 48(5), 290-298.
Balasubramanian M, Peres LC & Pelly D (2011) Mosaic trisomy 11 in a fetus with bilateral renal agenesis. Clinical Dysmorphology, 20(1), 47-49.
Balasubramanian M, Terron-Kwiatkowski A, Shah M, Wagner BE, Mechan D, Baty D & Sobey GJ (2010) A novel homozygous keratin 10 mutation in siblings with autosomal recessive epidermolytic ichthyosis. Expert Review of Dermatology, 5(5), 519-523.
Balasubramanian M, Sprigg A & Johnson DS (2010) IMAGe syndrome: Case report with a previously unreported feature and review of published literature. American Journal of Medical Genetics Part A, 152A(12), 3138-3142.
Balasubramanian M, Shield JPH, Acerini CL, Walker J, Ellard S, Marchand M, Polak M, Vaxillaire M, Crolla JA, Bunyan DJ , Mackay DJG et al (2010) Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. American Journal of Medical Genetics Part A, 152A(2), 340-346.
Balasubramanian M & Parker MJ (2010) Zimmermann–Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. Clinical Dysmorphology, 19(1), 48-50.
Balasubramanian M & Collins AL (2009) Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome. European Journal of Medical Genetics, 52(4), 234-238.
Balasubramanian M, Barber JCK, Collinson MN, Huang S, Maloney VK, Bunyan D & Foulds N (2009) Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy. American Journal of Medical Genetics Part A, 149A(4), 793-797.
Anbuselvam C, Vijayavel K & Balasubramanian MP (2007) Protective effect of Operculina turpethum against 7,12-dimethyl benz(a)anthracene induced oxidative stress with reference to breast cancer in experimental rats. Chemico-Biological Interactions, 168(3), 229-236.
Vijayavel K, Gopalakrishnan S, Chezhian A & Balasubramanian MP (2007) Biochemical constituents and bioaccumulation as biomarkers in the green musselPerna viridiswith reference to silver and chromium toxicity. Toxicological & Environmental Chemistry, 89(2), 353-361.
Vijayavel K & Balasubramanian MP (2007) Interaction of potash and decis in the ecophysiology of a freshwater fish Oreochromis mossambicus. Ecotoxicology and Environmental Safety, 66(2), 154-158.
Vijayavel K, Gopalakrishnan S, Thilagam H & Balasubramanian MP (2006) Dietary ascorbic acid and α-tocopherol mitigates oxidative stress induced by copper in the thornfish Terapon jarbua. Science of The Total Environment, 372(1), 157-163.
Vijayavel K, Rani EF, Anbuselvam C & Balasubramanian MP (2006) Interactive effect of monocrotophos and ammonium chloride on the freshwater fish Oreochromis mossambicus with reference to lactate/pyruvate ratio. Pesticide Biochemistry and Physiology, 86(3), 157-161.
Vijayavel K, Anbuselvam C & Balasubramanian MP (2006) Free radical scavenging activity of the marine mangrove Rhizophora apiculata bark extract with reference to naphthalene induced mitochondrial dysfunction. Chemico-Biological Interactions, 163(1-2), 170-175.
Vijayavel K, Anbuselvam C, Balasubramanian MP, Deepak Samuel V & Gopalakrishnan S (2006) Assessment of biochemical components and enzyme activities in the estuarine crab Scylla tranquebarica from naphthalene contaminated habitants. Ecotoxicology, 15(5), 469-476.
Vijayavel K & Balasubramanian MP (2006) Changes in oxygen consumption and respiratory enzymes as stress indicators in an estuarine edible crab Scylla serrata exposed to naphthalene. Chemosphere, 63(9), 1523-1531.
Ramakrishnan M, Elumalai M, Jayakumar R & Balasubramanian MP (1999) Phosphomonoesterase activity in different stages of Moniezia expanza (Cestoda). Cytobios, 1999(388), 71-75.
Ramakrishnan M, Elumalai M, Jayakumar R & Balasubramanian MP (1999) Influence of distillery effluent on feeding energetics of freshwater fish in relation to water temperature. Cytobios, 1999(389), 175-187.
Elumalai M, Jayakumar R & Balasubramanian MP (1999) Impact of monocrotophos on protein and carbohydrate metabolism in different tissues of albino rats. Cytobios, 1999(389), 131-136.
Elumalai M & Balasubramanian MP (1999) Influence of Naphthalene on Esterase Activity During Vitellogenesis of Marine Edible Crab, Scylla serrata. Bulletin of Environmental Contamination and Toxicology, 62(6), 743-748.
Elumalai M, Balasubramanian SE & Balasubramanian MP (1998) Influence of Naphthalene on Protein, Carbohydrate, and Phosphatases System During the Vitellogenesis in Marine Edible Crab, Scylla serrata. Bulletin of Environmental Contamination and Toxicology, 60(1), 22-29.
Rani EF, Elumalai M & Balasubramanian MP (1997) The toxicity of combinations of monocrotophos and ammonium chloride to Oreochromis mossambicus. Biomedical Letters, 55(219-220), 193-198.
Ahmed MR, Elumalai M, Balasubramanian SE & Balasubramanian MP (1997) Individual and combined effect of copper and chromium on oxygen consumption and phosphatases of a marine edible crab, Scylla serrata. Biomedical Letters, 55(219-220), 147-152.
Elumalai M & Balasubramanian MP (1997) Effect of Naphthalene on Carbohydrate Metabolism During Vitellogenesis in Marine Edible Crab, Scylla Serrata. Bulletin of Environmental Contamination and Toxicology, 59(6), 989-993.
Elumalai M, Felista Rani E & Balasubramanian MP (1996) Effect of naphthalene on phosphatases and esterase in muscle and testes of male Scylla serrata. Biomedical Letters, 54(213), 39-43.
Balasubramanian MP, Dhandayuthapani S, Nellaiappan K & Ramalingam K (1984) A comparative study on esterases from three species of Raillietina. Journal of Helminthology, 58(2), 101-104.
Vilaca T, Gossiel F, Delaney S, Baker D, Keigwin S, Eastell R & Balasubramanian M () 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. JBMR Plus.
Jeanne M, Ronce N, Remizé S, Arpin S, Baujat G, Breton S, Petit F, Vanlerberghe C, Coeslier-Dieux A, Manouvrier-Hanu S , Vincent-Delorme C et al () Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant inFGD1and management recommendations. Journal of Medical Genetics.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M , Lowenstein DH et al () Clinical and molecular characterization of patients with YWHAG‐related epilepsy. Epilepsia.
Woods E, Holmes N, Albaba S, Evans IR & Balasubramanian M () ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism. Clinical Genetics.
Lee S, Ochoa E, Badura-Stronka M, Donnelly D, Lederer D, Lynch SA, Gardham A, Morton J, Stewart H, Docquier F , Rodger F et al () Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. European Journal of Human Genetics.
Pagnamenta AT, Yu J, Evans J, Twiss P, Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF & Taylor JC () Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. Journal of Medical Genetics. View this article in WRRO
Wright CF, Quaife NM, Ramos-Hernández L, Danecek P, Ferla MP, Samocha KE, Kaplanis J, Gardner EJ, Eberhardt RY, Chao KR , Karczewski KJ et al () Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Jones R, Seasman A, Marr C, Bishop N, Arundel P, Balasubramanian M & Team MB () Dual diagnosis of autism and osteogenesis imperfecta: Case examples to illustrate the implications of dual diagnosis for enhanced outcomes for child and family. Bone Abstracts.
Balasubramanian M, Baxendale S & Roehl H () Identifying the role of NBAS in bone fragility using zebrafish and exploring therapeutic targets to reverse NBAS activity. Bone Abstracts.
Kanani F, Parker MJ, Burren CP, Rankin J & Balasubramanian M () Clinical report follow up: Type 1 Collagenopathy presenting with a Russell–Silver phenotype. American Journal of Medical Genetics Part A. View this article in WRRO
Balasubramanian M, Padidela R, Pollitt R, Bishop N, Mughal Z, Offiah A, Wagner B, McCaughey J & Stephens D () P4HB recurrent missense mutation causing Cole-Carpenter syndrome: exploring the underlying mechanism. Bone Abstracts. View this article in WRRO
Sithambaram S, Bishop N, Shankar L, Offiah AC, Pollitt RC, Balasubramanian M, Saggar AK & Arundel P () Osteogenesis imperfecta type VI presenting as suspected physical abuse -- a report of two cases. Bone Abstracts. View this article in WRRO
Webb E, Balasubramanian M, Fratzl-Zelman N, Titheradge H, Cole T, Stewart S, Crabtree N, Cabral WB, Owens B, Roschger P , Klaushofer K et al () Bone histomorphometry in patients withTMEM38Bmutations suggests a novel patho-mechanism leading to increased bone fragility. Endocrine Abstracts.
Smith K, Williams S, Griffiths P, Parker M, Mordekar S & Balasubramanian M () Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication. Journal of Pediatric Genetics, 01(04), 247-252.
Webb E, Balasubramanian M, Cole T, Stewart S, Crabtree N, Vogt J, Roschger P, Fratzl-Zelman N, Klaushofer K & Hogler W () Skeletal and bone material phenotype in recessive osteogenesis imperfecta due to a novel homozygous point mutation in TMEM38B. Bone Abstracts.
Balasubramanian M & Bishop N () In-depth phenotyping including analyses of skin connective tissue in osteogenesis imperfecta. Bone Abstracts.
Balasubramanian M & Bishop N () Cole-Carpenter syndrome. Bone Abstracts.
Meena B, Michael P & Nicholas JB () Phenotype-genotype correlation and role of ancillary investigations in atypical and rare forms of osteogenesis imperfecta. Bone Abstracts.

Chapters

Balasubramanian M (2024) Collagenopathies: Osteogenesis imperfecta and related disorders, Genomic and Molecular Cardiovascular Medicine (pp. 181-189). Elsevier
Balasubramanian M & Schirwani S (2020) ASXL3-Related Disorder
Balasubramanian M (2017) Clinical and molecular heterogeneity of osteogenesis imperfecta (pp. 1-63). Morgan and Claypool View this article in WRRO
Balasubramanian M, Cohen MC & Scheimberg I () Is this a syndrome? Patterns in genetic conditions, The Pediatric and Perinatal Autopsy Manual (pp. 105-119). Cambridge University Press

Conference proceedings papers

Godfrey M, Levy M, Leonardi E, Campbell C, Demain L, Jenkinson S, Hilton S, Almoguera Castillo B, Balasubramanian M, Bijlsma EK , Burkitt-Wright E et al (2024) CHD8 missense variants cause a variable neurodevelopmental disorder with incomplete penetrance. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 32 (pp 721-721)
Vilaca T, Eastell R & Balasubramanian M (2024) Family mapping of previously identified HPP patients using predictive genotyping and detailed phenotyping approach: the FAME study. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 39 (pp 322-323)
Cebe T, Balasubramanian M, Green N & Reilly G (2023) ELUCIDATION OF COLLAGEN FIBRE STRUCTURE IN OSTEOGENESIS IMPERFECTA USING SECOND HARMONIC GENERATION IMAGING ON POLYCAPROLACTONE FIBRES. TISSUE ENGINEERING PART A, Vol. 29(11-12) (pp 953-953)
Rots D, Yamada A, Foroutan A, McCon-Key H, Kerkhof J, Alders M, Maystadt I, Holden S, Balasubramanian M, Merla G , San-Ten G et al (2023) Systematic evaluation of EHMT1 protein altering variants uncovers unexpected insights on EHMT1 functions and Kleefstra syndrome pathogenesis. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 31 (pp 456-457)
Blaschitz A, Rao AA, Castiglioni C & Balasubramanian M (2023) Heterozygous mutations in SETD5 are associated with bone fragility. HORMONE RESEARCH IN PAEDIATRICS, Vol. 96 (pp 479-480)
Griffin M, Balasubramanian M, Blyth M, Dixit A, Turnpenny PD & Suri M (2022) Deep phenotyping of biallelic HACE1 variants. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 30(SUPPL 1) (pp 280-281)
Cebe T, Balasubramanian M, Green N & Reilly G (2022) VISUALIZATION OF COLLAGEN FIBRE STRUCTURE IN OSTEOGENESIS IMPERFECTA USING SECOND HARMONIC GENERATION IMAGING ON POLYCAPROLACTONE SCAFFOLD. TISSUE ENGINEERING PART A, Vol. 28 (pp S601-S602)
Quarrell OW, Rautengarten C, Stals K, Caswell R, De Franco E, Baple E, Burgess N, Jokhi R, Hazelwood JL, Offiah AC , Ebert B et al (2019) Report of a novel variant causing a schneckenbecken-like dysplasia. European Journal of Human Genetics, Vol. 27 (pp 1298-1299). Gothenburg, Sweden, 15 June 2019 - 18 June 2019. View this article in WRRO
Kanani F, Titheradge H, Cooper N, Elmslie F, Lees M, Juusola J, Pisani L, Mignot C, Valence S, Keren B , Guella I et al (2019) De novo, heterozygous missense variants in YWHAG as a novel cause of developmental and epileptic encephalopathy. European Journal of Human Genetics, Vol. 27(Supplement 2) (pp 1471-1472). Gothenburg, Sweden, 15 June 2019 - 18 June 2019. View this article in WRRO
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Balasubramanian M, Morton JEV, Weber A, Wilson LC , Johnson D et al (2019) BMP2 or not BMP2? A SMAD6-related question in craniosynostosis. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 27 (pp 1277-1278)
Peacock A, Offiah AC, Balasubramanian M, Bishop N & Arundel P (2019) Radiographic evidence of zoledronic acid given during pregnancy - a case report. Bone Abstracts, Vol. 7. Salzburg, Austria, 22 June 2019 - 25 June 2019. View this article in WRRO
Low T, Kostakis A & Balasubramanian M (2018) Compound heterozygous variants in IFT140 as a cause of non-syndromic Retinitis Pigmentosa. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 26 (pp 851-851) View this article in WRRO
Zarate YA, Gambello M, Pandya A, Saenz M, Siu VM, Ray J, Sellars E, Sun A, Smith W, Robin NH , Picker J et al (2018) PHENOTYPE AND NATURAL HISTORY IN 49 INDIVIDUALS WITH SATB2- ASSOCIATED SYNDROME. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol. 176(6) (pp 1526-1527) View this article in WRRO
Balasubramanian M, Hurst J, DeVile C, Bishop N, Arundel P, Offiah A, Pollitt R, Hughes D, Longman D, Caceres J & Skerry T (2017) NBAS variants causing a novel form of inherited bone fragility. Bone Abstracts, Vol. 6(2017). Bristol, UK, 10 June 2017 - 13 June 2017. View this article in WRRO
He Y, Yalcin E, Balasubramanian M, O'Reilly R, Bruckner-Tuderman L & Has C (2015) Molecular mechanism underlying interstitial lung disease, nephrotic syndrome and epidermolysis bullosa. JOURNAL OF INVESTIGATIVE DERMATOLOGY, Vol. 135 (pp S59-S59)
Balasubramanian M, Bourke S, Crawford N & Cohen M (2011) Referral to Clinical Genetics following post modem examination in foetal losses. JOURNAL OF MEDICAL GENETICS, Vol. 48 (pp S58-S58)
Balasubramanian M, Johnson DS & Sobey GJ (2009) Blue rubber bleb naevus syndrome- severe presentation in a neonate. JOURNAL OF MEDICAL GENETICS, Vol. 46 (pp S60-S60)
Balasubramanian M & Johnson DS (2009) Previously unreported feature in IMAGe Syndrome: Case discussion and review of published literature. JOURNAL OF MEDICAL GENETICS, Vol. 46 (pp S60-S60)
Balasubramanian M & Collins AL (2009) Audit on Genetics Ward Round- Wessex Experience. JOURNAL OF MEDICAL GENETICS, Vol. 46 (pp S58-S58)
Balasubramanian M & Quarrell OW (2008) Update of a unique case report by Tandon et al- Clefting with irido-retinochoroidal coloboma and skeletal abnormalities. JOURNAL OF MEDICAL GENETICS, Vol. 45 (pp S37-S37)
Balasubramanian M & Johnson DS (2008) Cutis aplasia, cardiac anomaly and abnormalities of portal vasculature: varying presentation in Adams Oliver Syndrome. JOURNAL OF MEDICAL GENETICS, Vol. 45 (pp S38-S38)
Balasubramanian M & Collins A (2008) Aplasia cutis congenita, terminal limb defects and bilateral closed lip schizencephaly- a variant of Adams-Oliver Syndrome. JOURNAL OF MEDICAL GENETICS, Vol. 45 (pp S37-S37)
Vijayavel K & Balasubramanian MP (2006) Fluctuations of biochemical constituents and marker enzymes as a consequence of naphthalene toxicity in the edible estuarine crab Scylla serrata. Ecotoxicology and Environmental Safety, Vol. 63(1) (pp 141-147)

Other

Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ , Steeves MA et al (2019) Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 10(1).

Preprints

Low KJ, Foreman J, Hobson RJ, Kwuo H, Martinez-Cayuelas E, Almoguera B, Marin-Reina P, Caraffi SG, Garavelli L, Woods E , Balasubramanian M et al (2024) The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders, Cold Spring Harbor Laboratory.
Copeland H, Low KJ, Wynn S, Ahmed A, Arthur V, Balasubramanian M, Bennett K, Berg J, Bertoli M, Bryson L , Bucknall C et al (2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders.
Balasubramanian M, Lee S, Ochoa E, Badura-Stronka M, Donnelly D, Lederer D, Lynch S, Gardham A, Morton J, Stewart H , Docquier F et al (2023) Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome, Research Square Platform LLC.
Balasubramanian M, Lam Z, Brooksbank L, Crookes R, Offiah A, Arundel P & Bishop N () An Emerging Link between Brain and Bone: Patient Report with a Pathogenic SCN9A Variant.
McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M , Ambridge K et al () Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study, Cold Spring Harbor Laboratory. View this article in WRRO

Research group

My group is working on two main research areas: Rare Bone Disorders and Rare Neurodevelopmental Disorders

1. Rare Bone Disorders (RBD)

I am working on two RBDs: Osteogenesis Imperfecta (OI) and Hypophosphatasia (HPP). I am currently pursuing an MRC Fellowship on developing zebrafish disease models for bone fragility and developing targets for therapeutic intervention having set up ‘Balasubramanian lab’ at Bateson Centre, University of Sheffield.

I lead inter-disciplinary bone genetics research: deep phenotyping (first Musculoskeletal NIHR Rare Disease Translational Research collaboration grant), fracture risk prediction models; genomics in OI and awarded grants by Brittle Bone Society in their first ever research call to study OI health economics and patient diagnostic journey and BRONE Study studying brain and bone association.

2. Rare Neurodevelopmental Disorders (RNDDs)

In the area of paediatric genomic medicine, my research is focused on genotype-phenotype correlation in newly identified genes from next generation sequencing studies such as Deciphering Developmental Disorders (DDD) study and the Genomics England, 100,000 Genomes Project. I am considered one of the world-leading experts on these disorders and have published national and international guidelines on diagnosis, management and ongoing surveillance for such disorders including ASXL3-related disorder, HNRNPU-related neurodevelopmental disorder, and SIN3A-related disorder. I am also working on developing gene therapy for rare neurodevelopmental disorders (RNDDs) and recently secured funding from The Children’s Hospital Charity and LifeArc to work on preliminary data collection for this proposal.

PhD Students:

2023               PhD (N Supari), Variants of uncertain significance: OI
2023               PhD (D Aiyedun), HNRNPU-related disorder
2023               PhD (N Kelly), Gene therapy in OI (MRC DiMEN)
2022               MD (E Woods), ASXL3-related syndrome
2020               PhD (T Cebe), Collagen orientation in OI

Grants

Key Research Grants as Lead Investigator:

Vascular-EDS zebrafish models, Annabelle’s Challenge, 2025
Zebrafish models for HNRNPU-related disorder, BetterFuture4U Foundation, 2024
Drug repurposing for HNRNPU, HNRNP Family Foundation, USA, 2024
SCYPHeR Initiative, UoS Knowledge Exchange Funding, 2023
SkelFish Study, The Children’s Hospital Charity, 2023
HNRNPU toward developing gene therapy, The Children's Hospital Charity and LifeArc Pathfinder Scheme, 2022
Unravelling role of NBAS in skeletal development, MRC, 2021
Family mapping in HPP study, Alexion Pharmaceuticals, 2021
High bone mass Osteogenesis Imperfecta Study, Charlie Veale Research Award, 2017
Assessing the Balance of Cost and Determining the Experiences of Families in Paediatric Osteogenesis Imperfecta Healthcare (ABCD Study), Brittle Bone Society Research Grants, 2017

Complementary Analyses Proposals (Deciphering Developmental Disorders Study- Sanger Institute Cambridge) https://www.deciphergenomics.org/ddd/overview
- XPO1 as a novel cause of congenital anomaly disorder including intellectual disability [#356]
- SP4 as a novel cause of congenital anomaly disorder including intellectual disability [#346]
- TAOK1-related neurodevelopmental disorder [#347]
- Genotype-phenotype correlation in USP7 (Hao-Fountain Syndrome) [#336]
- ZFHX4-Related Developmental Disorder [#337]
- SIN3A: Genotype-phenotype correlation [#282]
- Expanding the phenotype of TAB2 variants [#279]
- Genotype-phenotype correlation in NSDHL [#268]
- Genotype-phenotype correlation in YWHAG [#267]
- Study of patients with Joubert syndrome and CC2D2A variants [#263]
- Expansion of the movement disorder phenotype in SCN2A-related disease [#262]
- Study of patients with MAN1B1 mutations [#249]
- Genotype-phenotype correlation in ASXL3 (Bainbridge-Ropers syndrome) [#130]
- Genotype-phenotype correlation in NBAS [#143]
- Cole-Carpenter syndrome CRTAP [#96]
- Novel mechanisms causing Osteogenesis Imperfecta [#12]
- Hypophosphatasia and ALPL mutations [#213]
- Genotype-phenotype correlation in ATP1A3 [#135]
- Genotype-phenotype correlation in HNRNPU [#204]
- Genotype-phenotype correlation in IQSEC2 [#267]
- Genotype-phenotype correlation in VLDLR [#2197]
- Genotype-phenotype correlation in SRPX2 [#221]
- Genotype-phenotype correlation in LAMP2 [#228]

Co-Investigator:

Gene therapy for Syngap1 (CI: Prof Azzouz, University of Sheffield)
Osteostem study (CI: Prof Barbaric, University of Sheffield).
Sensory profiles in genetic syndromes associated with autism (CI: Dr Freeth, University of Sheffield).
Sheffield PI for PregCare Study (CI: Prof Goriely and Prof Wilkie, University of Oxford); Additional findings study (CI: Prof Chitty and Dr Hill, UCL); Patient experience in WGS (CI: Dr Lewis, UCL); Splicing study (CI: Prof Baralle, University of Southampton).

Teaching interests

Postgraduate University Courses/ Teaching:

MSc Teaching:

MMedSci Advance Clinical Practice: Genetics session
MSc Workplace modules (MED680)
MSc Endocrinology lecture on rare disease genetics
MSc in Human and Molecular Genetics (Module on Genetics in Human Disease)
University of Sheffield MSc Genomic Medicine lectures (MED670)

MSc Project Supervision:

2024 MSc Molecular Medicine
2024 MSc Reproductive and Developmental Medicine
2023/24 MSc Molecular Biology and Biotechnology
2023 MSc Neuroscience and Advanced Therapies
2023 MSc Scientist Training Programme
2022 Summer Internship, University of Applied Sciences, Germany
2020 MSc Genomic Medicine, UoS
2020 MSc Genomic Medicine, UCL

Undergraduate Teaching:

I am the MBChB Medical Careers Theme Lead (Aug’23 onwards). In this role, I am providing strategic oversight to develop the careers strategy for AUME and ensure this aligns with the University pillars. I am leading on a project embedding mySkills into the MBChB curriculum and working with the Medical Education Directors and core group to ensure career theme is implemented consistently

My formal teaching also includes,

1st and 3rd year University of Sheffield medical students’ Paediatric lectures
ILA Facilitator, Phase 1 MBChB
I participate in MBChB formative and summative assessments and clinic teaching.
I participate in the Medical Student interviews (MMI)
Assessor for SSC History of Medicine
I contribute regularly to Phase 2a MBChB SBA question banks
3-week Clinical Genetics placements for MBChB students with excellent feedback with most returning to do projects with me.
SSC placements and BSc Intercalating student supervision

Specialist Courses:

I deliver at least 6-7 invited lectures every year for post-graduate students/ doctors on Osteogenesis Imperfecta and rare bone genetics (National Genetics Trainee Day/ All Wales Genetics Service Training Day/ Pan Thames Skeletal Dysplasia Teaching/ Yorkshire and Humber Teaching Day to name a few)
I provide national and international teaching for Genetics trainees on ‘Osteogenesis Imperfecta’ and ‘Atypical Bone Fragility’ (Belgian Rheumatology Association)
I provide post-graduate genetics teaching to paediatric trainees (STEPP teaching) for Yorkshire and Humber Deanery and invited by several sub-specialities to give lectures on their organised study days on Genomic medicine (this includes Paediatric Endocrinology, Ophthalmology, and Paediatrics in peripheral hospitals)
I am actively involved in teaching Paediatric trainees for MRCPCH and DCH examinations
Deliver lectures in India at the International Birth Defects Conference, JSS University, Mysuru and Apollo Institute, New Delhi

Professional activities and memberships

International

Rare Bone Disease European Reference Network Working Group 1 (Diagnostic Challenges) Co-leader (BOND ERN)- 2017-2021. Steering group member for BOND ERN- 2017-2021
2018: I set out & presented White Paper on current status of OI diagnosis & improving patient pathways at European Parliament

National

Clinical Genetics Society (UK) - Secretary
British Society of Genomic Medicine
Skeletal Dysplasia Group
Royal College of Paediatrics and Child Health
General Medical Council

Patient support groups Medical Advisory Board (MAB)

Medical and Scientific Advisory Board Member, HNRNP international support group (2022-)
Medical Advisory Board Member, Brittle Bone Society (2019-)
Scientific Advisory Committee member, Sheffield Children's Hospital Charity (2018-)

I set up and lead the ‘North East and Yorkshire Genomic Research Network’ with inaugural meeting in June 22 to encourage genomics research across the NEY region in collaboration with academic universities (University of Newcastle, Sheffield, Leeds, York and Bradford), Genomic Laboratory Hubs and Genomics Medicine Service Alliance working with Genomics England.

NHS Genomic Medicine Service Alliance North East Yorkshire (NEY) Research Director (2020-) The NHS Genomic Medicine Service (GMS) Research Collaborative has been brought together as part of the NHS Long Term Plan aim to support research and development by facilitating genomic research on a national scale and ensure alignment with national research aims to deliver better outcomes for patients both now and in the future. The NHS GMS Research Collaborative is a partnership between the NHS GMS, Genomics England and the National Institute of Health Research (NIHR).

A key aim of the NHS GMS is to support research and development, including the development of a single genomic knowledgebase to allow research on a national scale, and ensure alignment with national research aims. The NHS GMS Research Collaborative provides a forum through which NHS England and NHS Improvement, NHS Genomic Laboratory Hubs, NHS GMS Alliances, Genomics England and the National Institute for Health Research work in partnership to facilitate high-quality genomic research on a national scale.

I am the NEY NHS GMSA Research Director with my role focused on promoting genomic research in our region across the academic institutions in the region (University of Newcastle, Leeds, Sheffield, York and Bradford) and NHS organisations across the region.

Leadership Activities

2024 - Section Deputy Head, Clinical Sciences, Division of Clinical Medicine, School of Medicine and Population Health, UoS
2024 - Mellanby Executive Committee Member, UoS
2023 - Clinical Director of Research, SCH
2023 - Founding Director, Sheffield Children & Young People Health Research (SCYPHeR) Initiative between Sheffield Children’s Hospital, Sheffield Hallam University and University of Sheffield
2022 - Impact Lead, Division of Clinical Medicine, UoS
2023 - REF Reviewer, Oncology & Metabolism, UoS -
2022 - Athena SWAN SAT Committee Member, Athena SWAN Organisation and Culture sub-group Committee Member
2021-2023 - Research Director, NHS North East Yorkshire (NEY),Genomic Medicine Service Alliance

Patient information leaflets

2020-21: Genetics in OI; pregnancy in OI leaflets

2019-20: Brittle Bone Society: Genetics Podcast; public lectures on autism

2013-20: Unique guides for these genetic disorders- ERF, IQSEC2, HNRNPU, ASXL3, SIN3A; 16p11.3 & 2q33 deletion syndrome (https://www.rarechromo.org/disorder-guides/); NORD guides for HNRNPU, ASXL3

School of Medicine and Population Health

School of Medicine and Population Health

Professor Meena Balasubramanian

Current PhD Opportunities:

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