Publications by authors named "Sarah Jenkinson"

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Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.
Tinatin Tkemladze, Christopher Campbell, Kakha Bregvadze, Eka Kvaratskhelia, Elene Abzianidze, Sarah Jenkinson

Eur J Hum Genet· October 2025

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Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.
Eamon P McCarron, Andrew Oldham, Amit Herwadkar, Sarah Jenkinson, Christopher Campbell

Am J Med Genet A· July 2025

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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.
Alexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, Scott D Findlay, Jenny Lord, Sarah Jenkinson

Genome Med· April 2025

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DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Slavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, Lisa Pavinato, Enza Ferrero, Sarah Jenkinson

HGG Adv· July 2024

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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Jennifer Kerkhof, Cassandra Rastin, Michael A Levy, Raissa Relator, Haley McConkey, Sarah Jenkinson

Genet Med· May 2024

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and in Prostate Cancer.
Tora K Smulders-Srinivasan, Sarah E Jenkinson, Louise J Brown, Vasileios P Lenis, Rosemary Bass

Anticancer Res· December 2023

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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Alexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, Scott D Findlay, Jenny Lord, Sarah Jenkinson

medRxiv· September 2023

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Iminosugar idoBR1 Isolated from Cucumber Reduces Inflammatory Activity.
Robert J Nash, Barbara Bartholomew, Yana B Penkova, Dino Rotondo, Fernanda Yamasaka, Sarah F Jenkinson

ACS Omega· July 2020

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d-Idose, d-Iduronic Acid, and d-Idonic Acid from d-Glucose via Seven-Carbon Sugars.
Zilei Liu, Sarah F Jenkinson, Akihide Yoshihara, Mark R Wormald, Ken Izumori

Molecules· October 2019

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Isolation from Stevia rebaudiana of DMDP acetic acid, a novel iminosugar amino acid: synthesis and glycosidase inhibition profile of glycine and β-alanine pyrrolidine amino acids.
R Fernando Martínez, Sarah F Jenkinson, Shinpei Nakagawa, Atsushi Kato, Mark R Wormald

Amino Acids· July 2019

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The subclonal complexity of STIL-TAL1+ T-cell acute lymphoblastic leukaemia.
Caroline L Furness, Marcela B Mansur, Victoria J Weston, Luca Ermini, Frederik W van Delft, Sarah Jenkinson

Leukemia· September 2018

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Prognostic impact of the absence of biallelic deletion at the locus for pediatric patients with T-cell acute lymphoblastic leukemia treated on the Medical Research Council UK Acute Lymphoblastic Leukemia 2003 trial.
Nadine Farah, Amy A Kirkwood, Sunniyat Rahman, Theresa Leon, Sarah Jenkinson

Haematologica· July 2018

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In silico analyses of essential interactions of iminosugars with the Hex A active site and evaluation of their pharmacological chaperone effects for Tay-Sachs disease.
Atsushi Kato, Izumi Nakagome, Shinpei Nakagawa, Kyoko Kinami, Isao Adachi, Sarah F Jenkinson

Org Biomol Chem· November 2017

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Synthesis and Biological Evaluation of Amidinourea and Triazine Congeners as Inhibitors of MDA-MB-231 Human Breast Cancer Cell Proliferation.
Rosemary Bass, Sarah Jenkinson, Jennifer Wright, Tora Smulders-Srinivasan, Jamie C Marshall

ChemMedChem· February 2017

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Synthetic Chemical Inducers and Genetic Decoupling Enable Orthogonal Control of the rhaBAD Promoter.
Ciarán L Kelly, Zilei Liu, Akihide Yoshihara, Sarah F Jenkinson, Mark R Wormald

ACS Synth Biol· October 2016

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6-Deoxyhexoses from l-Rhamnose in the Search for Inducers of the Rhamnose Operon: Synergy of Chemistry and Biotechnology.
Zilei Liu, Akihide Yoshihara, Ciarán Kelly, John T Heap, Mikkel H S Marqvorsen, Sarah F Jenkinson

Chemistry· August 2016

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Triacetonide of Glucoheptonic Acid in the Scalable Syntheses of d-Gulose, 6-Deoxy-d-gulose, l-Glucose, 6-Deoxy-l-glucose, and Related Sugars.
Zilei Liu, Akihide Yoshihara, Sarah F Jenkinson, Mark R Wormald, Ramón J Estévez

Org Lett· August 2016

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Phytochemical uptake following human consumption of Montmorency tart cherry (L. Prunus cerasus) and influence of phenolic acids on vascular smooth muscle cells in vitro.
Karen M Keane, Phillip G Bell, John K Lodge, Costas L Constantinou, Sarah E Jenkinson

Eur J Nutr· June 2016

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Simpson's Paradox and the Impact of Different DNMT3A Mutations on Outcome in Younger Adults With Acute Myeloid Leukemia.
Rosemary E Gale, Katarina Lamb, Christopher Allen, Dima El-Sharkawi, Cassandra Stowe, Sarah Jenkinson

J Clin Oncol· June 2015

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3-Fluoroazetidinecarboxylic Acids and trans,trans-3,4-Difluoroproline as Peptide Scaffolds: Inhibition of Pancreatic Cancer Cell Growth by a Fluoroazetidine Iminosugar.
Zilei Liu, Sarah F Jenkinson, Tom Vermaas, Isao Adachi, Mark R Wormald

J Org Chem· May 2015

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L-fucose from vitamin C with only acetonide protection.
Zilei Liu, Akihide Yoshihara, Mark R Wormald, Sarah F Jenkinson, Vicky Gibson

Org Lett· November 2014

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Cyclin C is a haploinsufficient tumour suppressor.
Na Li, Anne Fassl, Joel Chick, Hiroyuki Inuzuka, Xiaoyu Li, Sarah Jenkinson

Nat Cell Biol· November 2014

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Outcome for children and young people with Early T-cell precursor acute lymphoblastic leukaemia treated on a contemporary protocol, UKALL 2003.
Katharine Patrick, Rachel Wade, Nick Goulden, Chris Mitchell, Anthony V Moorman, Sarah Jenkinson

Br J Haematol· August 2014

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Nine of 16 stereoisomeric polyhydroxylated proline amides are potent β-N-acetylhexosaminidase inhibitors.
Benjamin J Ayers, Andreas F G Glawar, R Fernando Martínez, Nigel Ngo, Zilei Liu, Sarah F Jenkinson

J Org Chem· April 2014

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2-N-Benzyl-2,6-dide-oxy-2,6-imino-3,4-O-iso-propyl-idene-d-allono-nitrile.
Benjamin J Ayers, Sarah F Jenkinson, George W J Fleet, Amber L Thompson

Acta Crystallogr Sect E Struct Rep Online· November 2013

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