Publications by authors named "Edward Spence"

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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, J Edward Spence

Ann Neurol· September 2025

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Isolation and Identification of 2,5-Diketopiperazine from a Novel Strain and Synthesis of Its Four Stereoisomers.
Alan M C Obled, Refaat B Hamed, Edward Spence, Marija K Zacharova, Sunil V Sharma

Mar Drugs· May 2025

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Mono and biallelic variants in cause severe neurodevelopmental disorders.
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, J Edward Spence

medRxiv· March 2024

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Engineering improved ethylene production: Leveraging systems biology and adaptive laboratory evolution.
Sophie Vaud, Nicole Pearcy, Marko Hanževački, Alexander M W Van Hagen, Salah Abdelrazig, Edward Spence

Metab Eng· September 2021

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Metabolic engineering of Rhodococcus jostii RHA1 for production of pyridine-dicarboxylic acids from lignin.
Edward M Spence, Leonides Calvo-Bado, Paul Mines, Timothy D H Bugg

Microb Cell Fact· January 2021

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The Hydroxyquinol Degradation Pathway in Rhodococcus jostii RHA1 and Species Is an Alternative Pathway for Degradation of Protocatechuic Acid and Lignin Fragments.
Edward M Spence, Heather T Scott, Louison Dumond, Leonides Calvo-Bado, Sabrina di Monaco

Appl Environ Microbiol· September 2020

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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
Cinthya J Zepeda-Mendoza, Jonas Ibn-Salem, Tammy Kammin, David J Harris, Debra Rita, Edward J Spence

Am J Hum Genet· August 2017

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Sub-cellular location of FtsH proteases in the cyanobacterium Synechocystis sp. PCC 6803 suggests localised PSII repair zones in the thylakoid membranes.
Joanna Sacharz, Samantha J Bryan, Jianfeng Yu, Nigel J Burroughs, Edward M Spence

Mol Microbiol· May 2015

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O-Methyltransferase is shared between the pentose phosphate and shikimate pathways and is essential for mycosporine-like amino acid biosynthesis in Anabaena variabilis ATCC 29413.
Matthew A Pope, Edward Spence, Valentina Seralvo, Ranko Gacesa, Sibylle Heidelberger

Chembiochem· January 2015

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Solar powered biohydrogen production requires specific localization of the hydrogenase.
Nigel J Burroughs, Marko Boehm, Carrie Eckert, Giulia Mastroianni, Edward M Spence

Energy Environ Sci· October 2014

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2-epi-5-epi-Valiolone synthase activity is essential for maintaining phycobilisome composition in the cyanobacterium Anabaena variabilis ATCC 29413 when grown in the presence of a carbon source.
Edward Spence, Samantha J Bryan, Mohamed Lisfi, John Cullum, Walter C Dunlap

Photosynth Res· September 2013

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Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, J Edward Spence

N Engl J Med· October 2012

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Redundant pathways of sunscreen biosynthesis in a cyanobacterium.
Edward Spence, Walter C Dunlap, J Malcolm Shick, Paul F Long

Chembiochem· March 2012

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Is Technology Good for Us? A Eudaimonic Meta-Model for Evaluating the Contributive Capability of Technologies for a Good Life.
Edward H Spence

Nanoethics· December 2011

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Loss of the SPHF homologue Slr1768 leads to a catastrophic failure in the maintenance of thylakoid membranes in Synechocystis sp. PCC 6803.
Samantha J Bryan, Nigel J Burroughs, Carol Evered, Joanna Sacharz, Anja Nenninger, Edward M Spence

PLoS One· November 2011

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COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome.
Vandana Shashi, Timothy D Howard, Matcheri S Keshavan, Jessica Kaczorowski, Margaret N Berry, Edward J Spence

Psychiatry Res· July 2010

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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Feng Zhang, Lorraine Potocki, Jacinda B Sampson, Pengfei Liu, Amarilis Sanchez-Valle, J Edward Spence

Am J Hum Genet· March 2010

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Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome.
Vandana Shashi, Thomas R Kwapil, Jessica Kaczorowski, Margaret N Berry, Cesar S Santos, Edward Spence

Psychiatry Res· January 2010

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Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
Jill A Rosenfeld, Kathleen Leppig, Blake C Ballif, Heidi Thiese, Christine Erdie-Lalena, J Edward Spence

Genet Med· November 2009

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Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
Jill A Rosenfeld, Blake C Ballif, Ann Lucas, Edward J Spence, Cynthia Powell

PLoS One· August 2009

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Tat-dependent targeting of Rieske iron-sulphur proteins to both the plasma and thylakoid membranes in the cyanobacterium Synechocystis PCC6803.
Cassie Aldridge, Edward Spence, Markus A Kirkilionis, Lorenzo Frigerio, Colin Robinson

Mol Microbiol· October 2008

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Evidence for the intense exchange of MazG in marine cyanophages by horizontal gene transfer.
Michael J Bryan, Nigel J Burroughs, Edward M Spence, Martha R J Clokie, Nicholas H Mann

PLoS One· April 2008

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Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.
Roger E Stevenson, Cam K Brasington, Cindy Skinner, Richard J Simensen, J Edward Spence

Am J Med Genet A· October 2007

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Mid-dilution on-line haemodiafiltration in a standard dialyser configuration.
Detlef H Krieter, Gregory Collins, James Summerton, Edward Spence, Hélène Leray Moragues

Nephrol Dial Transplant· January 2005

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A homolog of Albino3/OxaI is essential for thylakoid biogenesis in the cyanobacterium Synechocystis sp. PCC6803.
Edward Spence, Shaun Bailey, Anja Nenninger, Simon Geir Møller, Colin Robinson

J Biol Chem· December 2004

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