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H. Church · SciRah

Researcher profile · Semantic Scholar

H. Church

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H. Church — researcher profile on SciRah

h-index: 21
Works: 89
Citations: 1,411

Most-cited papers

Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy.
Robert F. Wynn, J. Wraith, J. Mercer, A. O'Meara +4 more
2009Jornal de Pediatria135 citations
Semantic Scholar
Diagnosing mucopolysaccharidosis IVA
T. Wood, K. Harvey, Michael Beck, M. G. Burin +18 more
2013Journal of Inherited Metabolic Disease91 citations Open access
Semantic Scholar
Niemann–Pick disease type C in adults
J. Imrie, S. Vijayaraghaven, C. Whitehouse, S. Harris +5 more
2002Journal of Inherited Metabolic Disease85 citations
Semantic Scholar
Development of cytotrophoblast columns from explanted first-trimester human placental villi: role of fibronectin and integrin alpha5beta1.
J. Aplin, T. Haigh, C. Jones, H. Church +1 more
1999Biology of Reproduction84 citations
Semantic Scholar
Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease
H. Church, K. Tylee, Alan Cooper, M. Thornley +5 more
2007Bone Marrow Transplantation70 citations Open access
Semantic Scholar
Newborn screening for mucopolysaccharidoses: A pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
F. Kubaski, R. W. Mason, A. Nakatomi, H. Shintaku +11 more
2016Journal of Inherited Metabolic Disease67 citations Open access
Semantic Scholar
Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres
Arunabha Ghosh, Weston P. Miller, P. Orchard, S. Jones +7 more
2016Molecular Genetics and Metabolism60 citations Open access
Semantic Scholar
Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases
Kia Jane Langford-Smith, J. Mercer, J. Petty, K. Tylee +7 more
2010Journal of Inherited Metabolic Disease60 citations Open access
Semantic Scholar
Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.
E. Langereis, N. V. van Vlies, H. Church, R. Geskus +10 more
2015Molecular Genetics and Metabolism58 citations
Semantic Scholar
Molecular Testing of 163 Patients with Morquio A (Mucopolysaccharidosis IVA) Identifies 39 Novel GALNS Mutations
A. Morrone, K. Tylee, M. AlSayed, A. Brusius-Facchin +17 more
2014Molecular Genetics and Metabolism58 citations Open access
Semantic Scholar
Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy
M. Saif, B. Bigger, K. Brookes, J. Mercer +6 more
2012Haematologica51 citations Open access
Semantic Scholar
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses
F. Kubaski, Yasuyuki Suzuki, K. Orii, R. Giugliani +10 more
2016Molecular Genetics and Metabolism48 citations Open access
Semantic Scholar
Retrovirally mediated correction of bone marrow-derived mesenchymal stem cells from patients with mucopolysaccharidosis type I.
Melissa A. Baxter, Robert F. Wynn, Jon A. Deakin, I. Bellantuono +7 more
2002Blood48 citations Open access
Semantic Scholar
Binding of lead to a metallothionein-like protein in human erythrocytes.
H. Church, J. Day, R. Braithwaite, Stanley S. Brown
1993Journal of Inorganic Biochemistry48 citations
Semantic Scholar
Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome
Abhijit Pal, E. Langereis, M. Saif, J. Mercer +7 more
2015Orphanet Journal of Rare Diseases46 citations Open access
Semantic Scholar
Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation
S. Lum, K. Stępień, Arunabha Ghosh, A. Broomfield +4 more
2017Journal of Inherited Metabolic Disease39 citations
Semantic Scholar
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease
Jane E. Potter, G. Petts, Arunabha Ghosh, F. White +16 more
2021Orphanet Journal of Rare Diseases37 citations Open access
Semantic Scholar
Anchorage in the developing placenta: an overlooked determinant of pregnancy outcome?
J. Aplin, T. Haigh, L. Vićovac, H. Church +1 more
1998Human Fertility32 citations
Semantic Scholar
Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)
C. Gardner, N. Robinson, T. Meadows, R. Wynn +6 more
2011Journal of Inherited Metabolic Disease27 citations
Semantic Scholar
The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome)
E. Miebach, H. Church, A. Cooper, J. Mercer +3 more
2011Journal of Inherited Metabolic Disease27 citations
Semantic Scholar
IDUA mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I
Arunabha Ghosh, J. Mercer, S. Mackinnon, W. Yue +5 more
2017Human Mutation23 citations Open access
Semantic Scholar
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe
S. Jones, D. Cheillan, A. Chakrapani, H. Church +6 more
2022International Journal of Neonatal Screening20 citations Open access
Semantic Scholar
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes
A. Burlina, S. Jones, A. Chakrapani, H. Church +6 more
2022International Journal of Neonatal Screening19 citations Open access
Semantic Scholar
Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies
K. Stępień, Neve Cufflin, A. Donald, Simon Jones +2 more
2022International Journal of Molecular Sciences18 citations Open access
Semantic Scholar
Laminins in decidua, placenta and choriocarcinoma cells
H. Church, A. Richards, J. Aplin
199718 citations
Semantic Scholar
Endothelin receptor expression in human decidua.
G. Kohnen, S. Campbell, G. Irvine, H. Church +3 more
1998Molecular human reproduction17 citations
Semantic Scholar
The speciation of lead in erythrocytes in relation to lead toxicity: case studies of two lead-exposed workers.
H. Church, J. Day, R. Braithwaite, S. Brown
1993Neurotoxicology17 citations
Semantic Scholar
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype
H. Church, A. Cooper, F. Stewart, C. Thornton +1 more
2004European Journal of Human Genetics13 citations
Semantic Scholar
Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C.
J. Cooper, H. Church, H.-Y. Wu
2020Molecular Genetics and Metabolism12 citations
Semantic Scholar
Collagen VI and Laminin as Markers of Differentiation of Endometrial Stroma
J. Aplin, P. Mylona, C. Kielty, S. Ball +3 more
199512 citations
Semantic Scholar
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
O. Bodamer, H. Church, A. Cooper, J. Wraith +2 more
2002American journal of medical genetics10 citations
Semantic Scholar
Ex-Vivo Autologous Stem Cell Gene Therapy Clinical Trial for Mucopolysaccharidosis Type IIIA: Trial in Progress - NCT04201405
J. Kinsella, R. Wynn, B. Bigger, A. Thrasher +14 more
20208 citations Open access
Semantic Scholar
The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler)
A. Javed, T. Aslam, S. Jones, J. Mercer +6 more
2018Acta ophthalmologica8 citations Open access
Semantic Scholar
A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I
Kiterie M. E. Faller, A. Ridyard, R. Gutiérrez-Quintana, A. Rupp +6 more
2020Journal of Veterinary Internal Medicine5 citations Open access
Semantic Scholar
Defect-free graphene enhances enzyme delivery to fibroblasts derived from patients with lysosomal storage disorders.
Yingxian Chen, Tooba Taufiq, Niting Zeng, N. Lozano +9 more
2023Nanoscale4 citations Open access
Semantic Scholar
Case report of the first patient treated with ex-vivo autologous haematopoietic stem cell gene therapy transplant in mucopolysaccharidosis type IIIA
J. Kinsella, H. Church, W. Ogden, Ceri Jones +10 more
2020Molecular Genetics and Metabolism4 citations Open access
Semantic Scholar
Biochemical Engraftment and Clinical Outcomes Following Ex-Vivo Autologous Stem Cell Gene Therapy for Mucopolysaccharidosis Type IIIA
R. Wynn, J. Kinsella, Rebecca J. Holley, Jane E. Potter +15 more
2022Blood3 citations Open access
Semantic Scholar
Ex-vivo autologous stem cell gene therapy clinical trial for mucopolysaccharidosis type IIIA: Update on phase I/II clinical trial
J. Kinsella, S. Jones, A. Thrasher, C. Booth +14 more
20213 citations
Semantic Scholar
Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD)
S. Jones, M. AlSayed, Alexander Broomfield, F. White +11 more
20183 citations
Semantic Scholar
Plasma oxysterols as a putative biomarker for infantile onset lysosomal acid lipase deficiency (Wolman disease)
Arunabha Ghosh, J. Cooper, H. Church, S. Jones +1 more
20173 citations
Semantic Scholar
Successful implementation of plasma oxysterol for screening of Niemann-Pick disease type C in Manchester, UK
H. Church, Hoi-Yee Wu, J. Cooper, K. Tylee +7 more
20163 citations
Semantic Scholar
Clinical outcomes and sustained biochemical engraftment following ex-vivo autologous stem cell gene therapy for mucopolysaccharidosis type IIIA
Simon A. Jones, J. Kinsella, Rebecca J. Holley, Jane E. Potter +12 more
2024Molecular Genetics and Metabolism2 citations
Semantic Scholar
Sustained biochemical engraftment and early clinical outcomes following autologous stem cell gene therapy for mucopolysaccharidosis type IIIA
Simon A. Jones, J. Kinsella, Rebecca J. Holley, Jane E. Potter +10 more
2023Molecular Genetics and Metabolism2 citations Open access
Semantic Scholar
Mosaic Fabry disease in a male presenting as hypertrophic cardiomyopathy: When enzyme levels are not enough
C. Orsborne, Maria Xu, J. Eden, A. Wallace +9 more
2020Molecular Genetics and Metabolism2 citations Open access
Semantic Scholar
Screening for Fabry disease using dried blood spots in clinically relevant patient populations over six years
K. Tylee, Stephanie Agoreyo, C. Egerton, O. Parkes +1 more
20162 citations
Semantic Scholar
The UK experience of enzyme replacement therapy in patients with infantile onset Pompe disease
A. Broomfield, J. Davison, J. Fletcher, N. Finnegan +16 more
20152 citations
Semantic Scholar
The incidence of mucopolysaccharidoses and related disorders in the Turkish population: A 3 year study
H. Church, J. Petty, J. Righart, O. Parkes +3 more
20132 citations
Semantic Scholar
Reply to Maase et al. Comment on “Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20”
S. Jones, D. Cheillan, A. Chakrapani, H. Church +6 more
2023International Journal of Neonatal Screening1 citations Open access
Semantic Scholar
Sustained improvement of clinical CNS and somatic features of Gaucher disease type 3 after haematopoietic stem cell (HSC) gene therapy: A first-in-world report
A. Donald, Jane E. Potter, H. Church, Bahareh Amirloo +13 more
2023Molecular Genetics and Metabolism1 citations
Semantic Scholar
Adult acid sphingomyelinase deficiency (Niemann-Pick disease type B): A difficult pathway to a diagnosis in 4 novel cases
J. Villarrubia, G. Muñoz, Crina Ciubotariu, María Domínguez-Ruiz +9 more
2022Molecular Genetics and Metabolism1 citations
Semantic Scholar

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R. Wynn×13
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