Dr Meena Balasubramanian
MBBS, DCH, FRCPCH, MD
Clinical Medicine, School of Medicine and Population Health
Senior Clinical Lecturer in Musculoskeletal Genetics
MRC Fellow, University of Sheffield.
Honorary Consultant Clinical Geneticist; Sheffield Children’s NHS Foundation Trust.
Research Director, NHS North East and Yorkshire Genomic Medicine Service Alliance.
Lead Consultant Bone Geneticist for the nationally-commissioned Osteogenesis Imperfecta service in England.
+44 114 215 9008
Full contact details
Clinical Medicine, School of Medicine and Population Health
D39a
Firth Court
Western Bank
Sheffield
S10 2TN
- Profile
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For enquiries please contact - iicd-om-operational@sheffield.ac.uk
I am a Senior Clinical Lecturer in Musculoskeletal Genetics and experienced Consultant Clinical Geneticist providing Genetics input to Highly specialised Osteogenesis Imperfecta (OI) Service since 2012.
Clinical: I have established Sheffield as an international centre for bone genetics. I set up a national specialist clinic for SATB2 gene patients in Sheffield. Medical and scientific advisory board member for patient support groups: SATB2 Foundation; Brittle Bone Society (BBS); UNIQUE and Scientific Advisory Committee member for The Children’s Hospital Charity.
Innovation: I lead Bone Fragility domain for Musculoskeletal Genomic Clinical Interpretation Partnership (MSK GeCIP): Panelapp expert; I identified a new OI gene (NBAS) published in Bone, 2017; and currently set up my own laboratory working with zebrafish to develop new treatments for patients with NBAS-related disorder
Leadership: I am Research Director for North East and Yorkshire (NEY) Genomic Medicine Service Alliance, NHS England and established the NEY Genomic Research Network at UoS. I co-led Rare Bone Disease-European Reference Network (BOND-ERN) 'Diagnostic Challenges’ working group (2017-21); set out ‘White paper on OI diagnoses which I presented at European Parliament (2018). Elected Consultant council member and Secretary- Clinical Genetics Society, the national body for Clinical Geneticists (2021-to date).
Research: I have published >110 manuscripts in high-impact journals; h-index 19; 2559 Citations; I lead 12 national bone genetics projects & 17 Complementary Analysis Proposals (CAP) in Deciphering Developmental Disorders (DDD) study; written textbook on OI-genomics (2017). Mellanby Centre, UoS Principal Investigator.
Teaching: I am scientific board member for the national Genomics Audit & Research Collaborative set up by trainees in Genetics and genomic counselling and lead the ‘NEY genomic research network’. I provide UoS Medical school teaching on basic genetics, SSC placements, Sheffield Academic Medicine Society supervision and MMI interviews, summative and formative assessments for UoS medical students. I supervise PhD (1), MSc (3); BMedSci (3) at UoS; Faculty, Belgium Rare Bone Symposium; lecture MSc-Genomic Medicine, Endocrinology. Invited to deliver high-impact national and international teaching on bone genetics.
Current PhD Opportunities
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Mining data from National genomics Research Library to enable new gene discovery
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Unravelling the role of P4HB in skeletal development: towards treatment of heritable bone fragility
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Unravelling neurodevelopmental disease mechanisms of developmental delay: Additional sex combs as a model for ASXL-related disorders in the fly
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- Qualifications
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10/2016 Fellow of RCPCH: Nominated by Royal College of Paediatric and Child Health (RCPCH).
10/2012 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.
06/2004 Diploma in Child Health, Royal College of Paediatrics and Child Health.
06/2001 Bachelor in Medicine and Bachelor in Surgery (MBBS).
- Research interests
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My main areas of research currently are in,
-Rare bone genetics (NBAS therapy; Novel gene discovery in OI; OI gene therapy; Hypophosphatasia).
-Genomic Medicine (Undiagnosed genetic disorders; HNRNPU and ASXL3-related disorder).
-Rare bone genetics
1. NBAS Therapy (as PI, Funded by MRC): During studies to identify genes associated with rare osteogenesis imperfecta (OI) phenotypes, I 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, develop a fish model that accurately mimics human disease and identify potential new treatments. This would be beneficial to patients with both bone and liver manifestations of disease and could inform on a wider front regarding cell membrane trafficking and effects on collagen processing and secretion.
Patients with NBAS are subjected to a lifetime of recurrent fractures, repeated episodes of acute liver failure needing recurrent hospital admissions and immune deficiency. Developing druggable targets towards making this condition better would have a positive impact on quality of life for patients.
My career goal is to become a translational clinician scientist focused on patient-oriented research in bone fragility and establish a dynamic, cutting-edge bone genetics research group within University of Sheffield.
2. Novel gene discovery in OI and understanding disease mechanism for non-collagen OI genes (100,000 Genomes Project)
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 (as Co-I, OsteoStem Study; funded by The Children’s Hospital Charity)
Working alongside Dr Barbaric at School of Biosciences, we are generating pilot data for a MRC grant application for phenotypic assays created to facilitate molecular and cellular characterisation of OI phenotype of individual patients using iPSC cell lines. We hypothesise that the 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. Here, we propose to derive iPSCs from our existing banks of OI patients’ fibroblasts. We will differentiate OI iPSCs to osteoblasts and 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 (as PI, FAME Study; funded by Alexion Pharmaceuticals):
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 (Deciphering Developmental Disorders (DDD) study and 100,000 Genomes Project)
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 syndrome (as PI, funded by The Children’s Hospital Charity)
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. I have published the largest HNRNPU patient cohort (Yates et al., 2017; Durkin et al., 2021; Taylor et al., 2022) and now need to understand underlying disease mechanism and engineer therapeutic interventions for HNRNPU syndrome making use of close links between me (as clinical lead), Professor Stuart Wilson, Professor Ferraiuolo and Dr Seward (molecular) at UoS.
The co-location of this unique team means we could take a world leading position on HNRNPU gene therapy, which could become a model for similar loss-of-function brain disorders and establish Sheffield as a pioneer for this therapeutic approach.
3. ASLX3-related disorder, also referred to as Bainbridge-Ropers syndrome, is a newly described syndrome 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, I have published a patient guide for ASXL3.
Setting up the ASXL3-study:
Ethical approval for the registry and clinic set-up with sample collection is underway.
Investigating ASXL3 mutation cluster & contribution of missense variants:
Disease mechanism is thought to be due to loss-of-function variants but missense ASXL3 variants are picked up with relatively high frequency through WES/WGS studies. I will systematically explore and compare genotypes and phenotypes with special emphasis on ID, cardiac defects in these patients and episignature data to look at disease contribution.
ASXL3 Registry:
Subsequently, the comprehensive, anonymised international dataset will be inputted onto a bespoke web-based registry, designed specifically for ASXL3-related disorder. Families will be provided with the information to sign up to this registry so that they can access more patient-specific information with regards to outlook and prognostication, based on the genotype-phenotype information we collate and will have an annual update reminder to input further clinical information/ new developments so we are able to obtain longitudinal data on this condition and information on natural history for this disorder.
Sample collection:
Skin biopsies will be co-ordinated and arranged, at a time convenient to the patient and families, such as during planned percutaneous gastrostomy insertion which is a common procedure seen in this condition. DNA samples in the form of blood samples will be stored.
Methylation Signature & iPSC Cell Lines:
ASXL3 methylation episignature will be undertaken by generating genome-wide DNA methylation data and employ bioinformatic pipeline to define an ASXL3 specific signature. This signature will enable classification of sequence variants of uncertain significance.
Partnership with National Rare Disease Registration Service, Public Health England:
In partnership with NRDS, I will interrogate the population-based data on rare diseases to obtain data on prevalence of ASXL3-related disorder given use of first line WGS in investigating developmental delay. Under the remit of NHS Digital, there is already precedence for NRDS working with Genomics England to investigate data from National Genomic Research Library (NGRL) which contains all the genomics data from 100,000 Genomes project and NHS WGS service to identify and collate data on ASXL3 variants and correlate with clinical information.
- Publications
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Show: Featured publications All publications
Featured publications
Journal articles
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Human Mutation, 41(5), 1042-1050. View this article in WRRO
- P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics, 55(3), 158-165. View this article in WRRO
- Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.. BONE, 94, 65-74. View this article in WRRO
- 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
- 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
- Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. Journal of Medical Genetics, 48(5), 290-298.
Chapters
- ASXL3-Related Disorder
- Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta (pp. 1-63). Morgan & Claypool Publishers LLC View this article in WRRO
- Is this a syndrome? Patterns in genetic conditions, The Pediatric and Perinatal Autopsy Manual (pp. 105-119). Cambridge University Press
All publications
Journal articles
- 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.
- 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.
- 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.
- EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. The American Journal of Human Genetics.
- Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review. Neuromuscular Disorders.
- Familial Bainbridge-Ropers syndrome: report of familial ASXL3 inheritance and a milder phenotype. American Journal of Medical Genetics Part A.
- Expanding the phenotype of TAB2 variants and literature review. American Journal of Medical Genetics Part A.
- The phenotypic continuum of ATPLA3-related disorders. Neurology.
- The phenotypic continuum of ATP1A3-related disorders.. Neurology, 99(14), e1511-e1526.
- GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations. BMJ Case Reports, 15(6).
- Recommendations for whole genome sequencing in diagnostics for rare diseases. European Journal of Human Genetics.
- First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?. BMJ Case Reports, 15(3).
- Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata. Clinical Dysmorphology.
- 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
- 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
- Further delineation of phenotypic spectrum of
SCN2A
‐related disorder. American Journal of Medical Genetics Part A, 188(3), 867-877.
- 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.
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Clinical and biochemical characteristics of adults with hypophosphatasia attending a metabolic bone clinic. Bone, 144. View this article in WRRO
- The contribution of X-linked coding variation to severe developmental disorders. Nature Communications, 12. View this article in WRRO
- 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
- 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
- Biallelic variants in GLE1 with survival beyond neonatal period. Clinical Genetics, 98(6), 622-625. View this article in WRRO
- Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), 757-762. View this article in WRRO
- SMAD6 variants in craniosynostosis : genotype and phenotype evaluation. Genetics in Medicine, 22(9), 1498-1506. View this article in WRRO
- Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. Genetics in Medicine, 22(9), 1567-1567.
- Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis. Clinical Dysmorphology, 29(3), 155-157. View this article in WRRO
- 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
- Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance. Genetics in Medicine, 22(6), 1129-1129.
- 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
- Mosaicism in ASXL3-related syndrome : description of five patients from three families. European Journal of Medical Genetics, 63(6). View this article in WRRO
- ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Human Mutation, 41(5), 1042-1050. View this article in WRRO
- Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Human Genetics, 139, 575-592. View this article in WRRO
- 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
- Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. Clinical Dysmorphology, 29(1), 10-16. View this article in WRRO
- 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.
- Developing pathways to clarify pathogenicity of unclassified variants in osteogenesis imperfecta genetic analysis. Molecular Genetics & Genomic Medicine, 7(12). View this article in WRRO
- Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 10(1).
- Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105(5), 933-946. View this article in WRRO
- Cohesin complex-associated holoprosencephaly. Brain, 142(9), 2631-2643. View this article in WRRO
- Mutation update for the SATB2 gene.. Human Mutation, 40(8), 1013-1029. View this article in WRRO
- Dual diagnosis causing severe phenotype in a patient with Angelman syndrome.. Clinical Dysmorphology, 28(3), 158-161. View this article in WRRO
- Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. The American Journal of Human Genetics, 104(6), 1210-1222.
- Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. The American Journal of Human Genetics, 104(5), 948-956.
- Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. Bone, 121, 191-195. View this article in WRRO
- 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
- Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?. Gene, 685, 50-54. View this article in WRRO
- 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
- Quantifying the contribution of recessive coding variation to developmental disorders. Science, 362(6419), 1161-1164. View this article in WRRO
- CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9(1). View this article in WRRO
- 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
- 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
- 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
- SLC35A2-related congenital disorder of glycosylation: Defining the phenotype. European Journal of Paediatric Neurology. View this article in WRRO
- 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
- Autism and heritable bone fragility: A true association?. Bone Reports, 8, 156-162. View this article in WRRO
- 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
- 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
- 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
- Cover Image, Volume 176A, Number 4, April 2018. American Journal of Medical Genetics Part A, 176(4).
- P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics, 55(3), 158-165. View this article in WRRO
- 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
- Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. Epilepsy Research, 140, 166-170. View this article in WRRO
- 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
- 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
- Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. Ophthalmic Genetics, 39(2), 286-287. View this article in WRRO
- Clinical and molecular characterization of the first familial report of 1p32 microdeletion. Clinical Dysmorphology. View this article in WRRO
- 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
- 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
- Not all SCN1A epileptic encephalopathies are Dravet syndrome. Neurology, 89(10), 1035-1042. View this article in WRRO
- Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1.. Clin Dysmorphol. View this article in WRRO
- 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
- Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542(7642), 433-438. View this article in WRRO
- 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
- 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
- Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.. BONE, 94, 65-74. View this article in WRRO
- 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
- 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
- Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.. Am J Med Genet A. View this article in WRRO
- 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
- 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
- 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
- Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa. Journal of Investigative Dermatology, 136(5), 1056-1059.
- Inherited duplication of the short arm of chromosome 18p11.32–p11.31 associated with developmental delay/intellectual disability. Clinical Dysmorphology, 25(1), 19-22.
- Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta. American Journal of Medical Genetics Part A, 170(2), 476-481.
- Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. Nature Neuroscience, 18(12), 1731-1736.
- 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
- Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. Human Mutation, 36(12), 1197-1204. View this article in WRRO
- Clinical report. Clinical Dysmorphology, 24(4), 151-155.
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. The Lancet, 385(9975), 1305-1314.
- Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta. Clinical Dysmorphology, 24(2), 45-54.
- 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.
- CRTAPmutation in a patient with Cole-Carpenter syndrome. American Journal of Medical Genetics Part A, 167(3), 587-591.
- Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519(7542), 223-228. View this article in WRRO
- Short Sternum: Feature of Trisomy Chromosome 7 and a New Association?. Pediatric and Developmental Pathology, 17(1), 70-72.
- 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
- Pneumothorax from subpleural blebs-A new association of sotos syndrome?. American Journal of Medical Genetics Part A, 164(5), 1222-1226.
- 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
- Congenital myotonic dystrophy. Clinical Dysmorphology, 23(4), 127-129.
- Cerebral cavernous malformation: Clinical report of two families with variable phenotype associated with KRIT1 mutation. European Journal of Paediatric Neurology, 17(6), 661-665.
- 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.
- Genotype–phenotype study in type V osteogenesis imperfecta. Clinical Dysmorphology, 22(3), 93-101.
- Pattern of Clinical Genetics Referral Following Perinatal Postmortems. Pediatric and Developmental Pathology, 15(6), 478-486.
- Type 1 collagenopathy presenting with a Russell-Silver phenotype. American Journal of Medical Genetics Part A, 155(6), 1414-1418.
- 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.
- Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. Journal of Medical Genetics, 48(5), 290-298.
- Mosaic trisomy 11 in a fetus with bilateral renal agenesis. Clinical Dysmorphology, 20(1), 47-49.
- A novel homozygous keratin 10 mutation in siblings with autosomal recessive epidermolytic ichthyosis. Expert Review of Dermatology, 5(5), 519-523.
- 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.
- 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.
- Zimmermann–Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. Clinical Dysmorphology, 19(1), 48-50.
- 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.
- 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.
- 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.
- Biochemical constituents and bioaccumulation as biomarkers in the green musselPerna viridiswith reference to silver and chromium toxicity. Toxicological & Environmental Chemistry, 89(2), 353-361.
- Interaction of potash and decis in the ecophysiology of a freshwater fish Oreochromis mossambicus. Ecotoxicology and Environmental Safety, 66(2), 154-158.
- 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.
- 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.
- 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.
- Assessment of biochemical components and enzyme activities in the estuarine crab Scylla tranquebarica from naphthalene contaminated habitants. Ecotoxicology, 15(5), 469-476.
- 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.
- Phosphomonoesterase activity in different stages of Moniezia expanza (Cestoda). Cytobios, 1999(388), 71-75.
- Influence of distillery effluent on feeding energetics of freshwater fish in relation to water temperature. Cytobios, 1999(389), 175-187.
- Impact of monocrotophos on protein and carbohydrate metabolism in different tissues of albino rats. Cytobios, 1999(389), 131-136.
- Influence of Naphthalene on Esterase Activity During Vitellogenesis of Marine Edible Crab, Scylla serrata. Bulletin of Environmental Contamination and Toxicology, 62(6), 743-748.
- 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.
- The toxicity of combinations of monocrotophos and ammonium chloride to Oreochromis mossambicus. Biomedical Letters, 55(219-220), 193-198.
- 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.
- Effect of Naphthalene on Carbohydrate Metabolism During Vitellogenesis in Marine Edible Crab, Scylla Serrata. Bulletin of Environmental Contamination and Toxicology, 59(6), 989-993.
- Effect of naphthalene on phosphatases and esterase in muscle and testes of male Scylla serrata. Biomedical Letters, 54(213), 39-43.
- A comparative study on esterases from three species of Raillietina. Journal of Helminthology, 58(2), 101-104.
- Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. European Journal of Human Genetics.
- Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
- 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.
- Identifying the role of NBAS in bone fragility using zebrafish and exploring therapeutic targets to reverse NBAS activity. Bone Abstracts.
- 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
- P4HB recurrent missense mutation causing Cole-Carpenter syndrome: exploring the underlying mechanism. Bone Abstracts. View this article in WRRO
- Osteogenesis imperfecta type VI presenting as suspected physical abuse -- a report of two cases. Bone Abstracts. View this article in WRRO
- Bone histomorphometry in patients withTMEM38Bmutations suggests a novel patho-mechanism leading to increased bone fragility. Endocrine Abstracts.
- Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication. Journal of Pediatric Genetics, 01(04), 247-252.
- Skeletal and bone material phenotype in recessive osteogenesis imperfecta due to a novel homozygous point mutation in TMEM38B. Bone Abstracts.
- In-depth phenotyping including analyses of skin connective tissue in osteogenesis imperfecta. Bone Abstracts.
- Cole-Carpenter syndrome. Bone Abstracts.
- Phenotype-genotype correlation and role of ancillary investigations in atypical and rare forms of osteogenesis imperfecta. Bone Abstracts.
Chapters
- ASXL3-Related Disorder
- Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta (pp. 1-63). Morgan & Claypool Publishers LLC View this article in WRRO
- Is this a syndrome? Patterns in genetic conditions, The Pediatric and Perinatal Autopsy Manual (pp. 105-119). Cambridge University Press
Conference proceedings papers
- Deep phenotyping of biallelic HACE1 variants. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 30(SUPPL 1) (pp 280-281)
- 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)
- 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
- 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
- BMP2 or not BMP2? A SMAD6-related question in craniosynostosis. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 27 (pp 1277-1278)
- 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
- 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
- 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
- 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
- Molecular mechanism underlying interstitial lung disease, nephrotic syndrome and epidermolysis bullosa. JOURNAL OF INVESTIGATIVE DERMATOLOGY, Vol. 135 (pp S59-S59)
- Referral to Clinical Genetics following post modem examination in foetal losses. JOURNAL OF MEDICAL GENETICS, Vol. 48 (pp S58-S58)
- Blue rubber bleb naevus syndrome- severe presentation in a neonate. JOURNAL OF MEDICAL GENETICS, Vol. 46 (pp S60-S60)
- Previously unreported feature in IMAGe Syndrome: Case discussion and review of published literature. JOURNAL OF MEDICAL GENETICS, Vol. 46 (pp S60-S60)
- Audit on Genetics Ward Round- Wessex Experience. JOURNAL OF MEDICAL GENETICS, Vol. 46 (pp S58-S58)
- 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)
- Cutis aplasia, cardiac anomaly and abnormalities of portal vasculature: varying presentation in Adams Oliver Syndrome. JOURNAL OF MEDICAL GENETICS, Vol. 45 (pp S38-S38)
- 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)
- 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
- Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 10(1).
Preprints
- Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome, Research Square Platform LLC.
- An Emerging Link between Brain and Bone: Patient Report with a Pathogenic SCN9A Variant.
- 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
- 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
- Grants
-
Key research grants as Lead Investigator:
- HNRNPU toward developing gene therapy, The Children’s Hospital Charity, 2022.
- Unravelling role of NBAS in skeletal development, MRC, 2021.
- Family mapping in HPP study, Alexion. 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.
- Phenotype based assays in Osteogenesis Imperfecta, The Children’s Hospital Charity, Sheffield, 2016.
- Digital disease phenotyping in inherited bone fragility disorders, Newlife Foundation For Disabled Children, 2016.
- Exploring the functionality of a new gene in bone fragility and its role in autism, The Children’s Hospital Charity, Sheffield, 2016.
- Exome sequencing in Osteogenesis Imperfecta, The Children’s Hospital Charity, Sheffield, 2015.
- Identification of novel phenotypes in a cohort of children with bone fragility and autism, Newlife Foundation for Disabled Children, 2015.
- Commitment from Genzyme for high throughput RNA sequencing and TGF-B antibody work-up in cultured fibroblasts from patients with Osteogenesis Imperfecta to identify novel pathways for diagnosis and intervention, 2015.
- In-depth phenotyping including studying skin biopsy findings in Osteogenesis Imperfecta, NIHR Rare Disease Translational Research Collaboration, 2014.
- NIHR Research Capacity Funding Award- 2014/2015, 2014.
- Sheffield Children's NHS Foundation Trust: Academic PA’s, 2014-2016.
- Research Capacity Funding from Sheffield Children’s NHS Foundation Trust, 2014.
- Novel mechanism leading to Osteogenesis Imperfecta and Type V OI genotype study under the auspices of ‘Deciphering Developmental Disorders' (DDD), Sanger Institute, Wellcome Trust in Cambridge.
- Complementary Analyses Proposals (Deciphering Developmental Disorders Study- Sanger Institute, Cambridge) https://www.deciphergenomics.org/ddd/complementary-analyses.
- 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:
1. Osteostem study (CI: Dr Barbaric, University of Sheffield).
2. Sensory profiles in genetic syndromes associated with autism (CI: Dr Freeth, University of Sheffield).
2. 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
-
I have built a research group comprising doctors & allied health colleagues (lab & genetic counsellors) with a global reputation through publications & presentations in international meetings. I have supervised my group in research outputs (Brueton Prize) & first-author publications in high impact journals like JMedGenet, ClinGenet, HumMut (28 so far). I have 4 non-Genetics trainees on secondment, involved in research projects.
Trainees (Genetics, Neonatal, Neurology, Dental) from other centres have sought my supervision; I supervise 5 non-Sheffield trainees with DDD CAP studies.
My teaching interests are mainly in supervising undergraduate and postgraduate students in genomic medicine projects. I am currently supervising PhD (1 with Insigneo), MSc (2), BMedSci students; supervising applications for PhD/ MD projects-3 (2016-17). I provide supervision to DClinSci (2020-), University of Manchester.
SSC Student Placements: 2/year
I also provide clinical supervision to 2 Genetics Speciality trainees. I undertake STEPP teaching for Paediatric trainees. I am one of two convenors for RCPCH Genetics session (2015-date).
I am an invited reviewer for several genomic medicine and bone genetics manuscripts (2-3/week) & grant review (MRC, Temple Foundation; ESPE; Wellcome) (2014-date).
PhD applications invited.
- 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.
- 2017-20: BOND-ERN WG member: ‘Research’, 'Education', ‘Clinical Guidelines’.
- 2020- : Participant in EuRR Bone Registry as medical member.
National
- I am one of two NHS Genomic Medicine Service Alliance North East Yorkshire (NEY) Research Collaborative representing our region on national genomics research board; in 2021 I produced a capacity statement & strategy document for delivering mainstream genomics research for NHS England (2020- to date).
- Elected representative of national constituent body, Clinical Genetics Society 2017- 2021. As CGS Council Consultant member, I led a working group & wrote National job plan document for Consultant Geneticists for NHS England service specification for Clinical Genetics Services submitted to Clinical Reference Group.
- GeCIP sub-domain lead for Paediatric Bone Fragility and Metabolic Bone Disease under the Musculoskeletal theme GeCIP (Genomic Clinical Interpretation Partnership) for the 100,000 genomes project- 2016- to date.
- Research lead for NIHR portfolio & non-portfolio research delivery for Sheffield Genetics (2020- to date).
Patient support groups Medical Advisory Board (MAB)
- Medical Advisory Board Member, Brittle Bone Society.
- Medical and Scientific Advisory Board Member, SATB2 international support group.
- 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.
- 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/)