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S. Jones · SciRah

Researcher profile · Semantic Scholar

S. Jones

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S. Jones — researcher profile on SciRah

h-index: 50
Works: 321
Citations: 7,724

Most-cited papers

Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
B. Gentner, F. Tucci, S. Galimberti, F. Fumagalli +44 more
2021New England Journal of Medicine129 citations Open access
Semantic Scholar
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
M. Akyol, T. Alden, H. Amartino, J. Ashworth +27 more
2019Orphanet Journal of Rare Diseases86 citations Open access
Semantic Scholar
Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism
E. Y. Tan, J. Boelens, S. Jones, R. Wynn
2019Frontiers in Pediatrics85 citations Open access
Semantic Scholar
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
G. Diaz, S. Jones, M. Scarpa, K. Mengel +7 more
2021Genetics in Medicine74 citations Open access
Semantic Scholar
Metabolism of Non-Enzymatically Derived Oxysterols: Clues from sterol metabolic disorders
W. Griffiths, Eylan Yutuc, J. Abdel-Khalik, P. J. Crick +10 more
2019Free Radical Biology & Medicine52 citations Open access
Semantic Scholar
Efficacy and safety of N-acetyl-l-leucine in Niemann–Pick disease type C
T. Brémovà-Ertl, J. Claassen, Tomas Foltan, J. Gascón-Bayarri +11 more
2021Journal of Neurology47 citations Open access
Semantic Scholar
Haematopoietic stem cell gene therapy with IL‐1Ra rescues cognitive loss in mucopolysaccharidosis IIIA
H. Parker, S. Ellison, Rebecca J. Holley, C. O'Leary +10 more
2020EMBO Molecular Medicine45 citations Open access
Semantic Scholar
Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.
A. Broomfield, J. Davison, Jane Roberts, C. Stewart +14 more
2020Molecular Genetics and Metabolism41 citations
Semantic Scholar
Novel therapies for mucopolysaccharidosis type III
Berna Seker Yilmaz, J. Davison, S. Jones, J. Baruteau
2020Journal of Inherited Metabolic Disease40 citations Open access
Semantic Scholar
High dose genistein in Sanfilippo syndrome: A randomised controlled trial
Arunabha Ghosh, S. Rust, Kia J. Langford-Smith, D. Weisberg +12 more
2021Journal of Inherited Metabolic Disease38 citations Open access
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
Variables affecting outcomes after allogeneic hematopoietic stem cell transplant for cerebral adrenoleukodystrophy
R. Chiesa, J. Boelens, C. Duncan, J. Kuehl +15 more
2021Blood Advances36 citations Open access
Semantic Scholar
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Shaun Bolton, Vina Soran, M. P. Marfa, J. Imrie +16 more
2021Orphanet Journal of Rare Diseases35 citations Open access
Semantic Scholar
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study
J. Muenzer, B. Burton, P. Harmatz, L. Gutiérrez-Solana +30 more
2022Molecular Genetics and Metabolism34 citations Open access
Semantic Scholar
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
Suresh Vijay, A. Brassier, Arunabha Ghosh, Simona Fecarotta +3 more
2020Orphanet Journal of Rare Diseases34 citations Open access
Semantic Scholar
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease
M. Oláhová, Camilla Ceccatelli Berti, J. Collier, C. Alston +9 more
2019Human Molecular Genetics23 citations Open access
Semantic Scholar
Current and Future Treatment of Mucopolysaccharidosis (MPS) Type II: Is Brain-Targeted Stem Cell Gene Therapy the Solution for This Devastating Disorder?
C. Horgan, S. Jones, B. Bigger, R. Wynn
2022International Journal of Molecular Sciences21 citations Open access
Semantic Scholar
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
S. Jones, M. McGovern, O. Lidove, R. Giugliani +6 more
2020Molecular Genetics and Metabolism21 citations Open access
Semantic Scholar
Immune cytopenia post-cord transplant in Hurler syndrome is a forme fruste of graft rejection.
D. Deambrosis, S. Lum, R. Hum, K. Poulton +6 more
2019Blood Advances18 citations Open access
Semantic Scholar
Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I.
E. Jameson, S. Jones, T. Remmington
2019Cochrane Database of Systematic Reviews16 citations Open access
Semantic Scholar
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II
J. Muenzer, B. Burton, P. Harmatz, L. Gutiérrez-Solana +10 more
2022Molecular Genetics and Metabolism15 citations Open access
Semantic Scholar
Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease
A. Donald, Chong Y. Tan, A. Chakrapani, D. Hughes +6 more
2020Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar
Changes in PCSK 9 and apolipoprotein B100 in Niemann–Pick disease after enzyme replacement therapy with olipudase alfa
B. Garside, J. Ho, S. Kwok, Yi-Fen Liu +5 more
2020Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure
G. Kuiper, E. Langereis, S. Breyer, M. Carbone +18 more
2019Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar
I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease.
R. Edmiston, S. Wilkinson, S. Jones, K. Tylee +2 more
2019JIMD Reports13 citations Open access
Semantic Scholar
Outcome of haematopoietic cell transplantation in children with lysosomal acid lipase deficiency: a study on behalf of the EBMT Inborn Errors Working Party
S. Lum, M. Minkov, S. Jones, Sheree Hazelaar +20 more
2023Bone Marrow Transplantation11 citations
Semantic Scholar
Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I
Arunabha Ghosh, Ai-Yin Liao, C. O'Leary, J. Mercer +5 more
2019Molecular Therapy: Methods & Clinical Development11 citations Open access
Semantic Scholar
Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series
Arthavan Selvanathan, J. Kinsella, F. Moore, R. Wynn +4 more
2021JIMD Reports8 citations Open access
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
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
G. Diaz, S. Jones, M. Scarpa, K. Mengel +7 more
2022Genetics in Medicine6 citations Open access
Semantic Scholar
Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.
F. Wijburg, Fiona Heap, S. Rust, J. D. de Ruijter +6 more
2021Molecular Genetics and Metabolism6 citations Open access
Semantic Scholar
Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses.
S. Jones, D. Marsden, Tony Koutsoukos, J. Sniadecki +3 more
2020Molecular Genetics and Metabolism5 citations Open access
Semantic Scholar
Toward a Core Outcome Set for Head, Neck, and Respiratory Disease in Mucopolysaccharidosis Type II: Systematic Literature Review and Assessment of Heterogeneity in Outcome Reporting:
A. Metryka, Nailah Brown, J. Mercer, S. Wilkinson +3 more
20195 citations
Semantic Scholar
Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII
S. Jones, M. Çoker, Antonio González-Meneses López, J. Sniadecki +3 more
2021Molecular Genetics and Metabolism Reports4 citations Open access
Semantic Scholar
Progression of eye disease over 15 years in a patient with mucopolysaccharidosis type VI on enzyme replacement therapy
M. Sarfraz, Martin Smith, S. Jones, J. Ashworth
2021BMJ Case Reports4 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
Research activity and capability in the European reference network MetabERN
J. Heard, C. Bellettato, C. van Lingen, M. Scarpa +64 more
2019Orphanet Journal of Rare Diseases4 citations Open access
Semantic Scholar
Demographic and clinical characteristics of patients with metachromatic leukodystrophy in the United Kingdom: Interim results from an observational real-world study
S. Jones, J. Davison, P. Mooney, L. Campbell +4 more
20213 citations
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
Membranous nephropathy in a patient with infantile onset lysosomal acid lipase deficiency and anti-sebelipase antibodies
Arunabha Ghosh, G. Batra, R. Wynn, P. Brenchley +2 more
2019Molecular Genetics and Metabolism3 citations
Semantic Scholar
High dose genistein aglycone in Sanfilippo syndrome: Results of a randomized, double-blinded, placebo controlled clinical trial
Arunabha Ghosh, S. Rust, M. Canal, D. Weisberg +4 more
2019Molecular Genetics and Metabolism3 citations
Semantic Scholar
Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
Suresh Vijay, A. Brassier, Arunabha Ghosh, Simona Fecarotta +3 more
2021Orphanet Journal of Rare Diseases2 citations Open access
Semantic Scholar
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
H. Hayhurst, I. D. de Coo, Dorota Piekutowska-Abramczuk, C. Alston +25 more
2019Annals of Clinical and Translational Neurology2 citations Open access
Semantic Scholar
Impact of two-year elosulfase alfa treatment on patient-reported outcomes in patients with Morquio syndrome type A: Results from an English managed access agreement
Jacqueline Adam, M. Cleary, C. Hendriksz, T. Geberhiwot +6 more
2019Molecular Genetics and Metabolism2 citations
Semantic Scholar
Defect-free graphene enhances enzyme delivery to fibroblasts derived from the patients with lysosomal disorders
S. Vranic, A. Jovanović, S. Jones, Kostas Kostarelos +1 more
2023Molecular Genetics and Metabolism1 citations
Semantic Scholar
Proceedings of the 45th Annual Meeting of the Southern Pediatric Neurology Society March 26, 2022, New Orleans, LA
Vandana Vednarayana, Sireesha Chinthaparthi, S. Al-Zaidy, Eric J. Mallack +10 more
2023Journal of Child Neurology1 citations
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
Interim 49-week results of a phase 1/2 study of intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II
A. Bakardjiev, P. Harmatz, B. Burton, M. Escolar +10 more
2022Molecular Genetics and Metabolism1 citations
Semantic Scholar
Safety and efficacy of intrathecal idursulfase-IT in patients <3 years old with neuronopathic mucopolysaccharidosis II: phase 2/3 substudy and extension
J. Muenzer, B. Burton, P. Harmatz, L. Gutiérrez-Solana +8 more
20211 citations
Semantic Scholar
Cardiac surgical interventions in MPS I and VI patients in adulthood
K. Stępień, S. Jones, R. Wynn, C. Hendriksz +8 more
20211 citations
Semantic Scholar

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Arunabha Ghosh×9
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J. Kinsella — researcher profile on SciRah

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