J. Fletcher

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
202218 citationsauthor #27
Functional assay for analysis of variants of uncertain significance in maple syrup urine disease
20210 citationsauthor #6
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning
202110 citationsauthor #10
Isolated autism is not an indication for Smith–Lemli–Opitz syndrome biochemical testing
20212 citationsauthor #4
Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency.
20217 citationsauthor #22
Review of 12 months of copy number variant calling on a clinical next generation sequencing pipeline
20200 citationsauthor #7
Faculty Opinions recommendation of Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians.
20200 citationsauthor #1
Faculty Opinions recommendation of Recent advances in understanding the molecular genetic basis of mitochondrial disease.
20202 citationsauthor #1
Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA
20206 citationsauthor #5
Faculty Opinions recommendation of The role of exome sequencing in newborn screening for inborn errors of metabolism.
20200 citationsauthor #1
Clinical implications of discordant massarray and sanger sequencing results in cystic fibrosis newborn screening
20200 citationsauthor #8
Multiple acyl-CoA dehydrogenase deficiency (MADD) presenting as polymyositis.
20207 citationsauthor #3
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence
202012 citationsauthor #6
Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses.
20204 citationsauthor #9
Recent Research Advances in Biology Vol. 4
20200 citationsauthor #28
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
202036 citationsauthor #72
Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy
20201 citationsauthor #4
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6
201927 citationsauthor #9
Faculty Opinions recommendation of The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.
20190 citationsauthor #1
Relapsing necrotising encephalomyelopathy due to RANBP2 mutation
201911 citationsauthor #4
Expanding the clinical utility of glucosylsphingosine for Gaucher disease
201941 citationsauthor #4
Faculty Opinions recommendation of The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
20191 citationsauthor #1
112 Blood spot testing for late onset pompe disease
20180 citationsauthor #8
Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice.
201815 citationsauthor #7
Faculty Opinions recommendation of Riboflavin and health: A review of recent human research.
20181 citationsauthor #1
Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses
201850 citationsauthor #3
014 The diagnostic odyssey for fabry disease: ten years experience in testing
20180 citationsauthor #9
Mutation detection for biochemical genetics in the genomic era
20170 citationsauthor #1
AB117. Rearranging workflow to improve turn-around time for genetic testing: doing more with less.
20170 citationsauthor #2
Faculty of 1000 evaluation for Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
20170 citationsauthor #1
Provision of genomic services and reporting to non-experts
20170 citationsauthor #1
A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.
201733 citationsauthor #3
The ‘reappearance’ of vendace (Coregonus albula) in the face of multiple stressors in Bassenthwaite Lake, U.K.
20177 citationsauthor #2
Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy.
201716 citationsauthor #3
Distribution , characteristics and condition of Arctic charr ( Salvelinus alpinus ) spawning 1 grounds in a differentially eutrophicated twin-basin lake 2 3
20160 citationsauthor #3
Metabolic emergencies and the emergency physician
20167 citationsauthor #1
Complex genetic test requests in SA: An MDT approach.
20160 citationsauthor #3
A survey of the status of the lakes of the English Lake District: the Lakes Tour 2015
20165 citationsauthor #6
Monitoring of the Arctic charr population of Crummock Water in 2015
20160 citationsauthor #2
Interruption of enzyme replacement therapy in Gaucher disease.
20166 citationsauthor #2
Screening for Down syndrome in the second trimester of pregnancy
20161 citationsauthor #5
Fish assessments in support of Lakes Tour 2015. Final report
20160 citationsauthor #2
Investigation into the nutrient status of benthic algae in the upper River Ehen
20160 citationsauthor #6
Faculty of 1000 evaluation for Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
20162 citationsauthor #1
Ennerdale Water fortnightly monitoring report 2015
20160 citationsauthor #5
N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice.
201611 citationsauthor #5
Assessment of selected potential Arctic charr spawning grounds in Wastwater. Final report
20160 citationsauthor #2
Hydroacoustic data report for quantifying fish populations in SSSI lakes
20150 citationsauthor #2
Llyn Tegid hydroacoustic survey 2014
20150 citationsauthor #2
Faculty Opinions recommendation of Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
20151 citationsauthor #1
Insights into percid population and community biology and ecology from a 70 year (1943 to 2013) study of perch Perca fluviatilis in Windermere, U.K.
20157 citationsauthor #2
Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool.
201531 citationsauthor #4
The relationship between fasting plasma citrulline concentration and small intestinal function in the critically ill
201523 citationsauthor #4
Faculty Opinions recommendation of Principles for consistent value assessment and sustainable funding of orphan drugs in Europe.
20150 citationsauthor #1
Arrays: has the time come for haematological malignancy?
20150 citationsauthor #2
Distribution, characteristics and condition of Arctic charr (Salvelinus alpinus) spawning grounds in a differentially eutrophicated twin-basin lake
201519 citationsauthor #3
Ensuring clinical validity - modernising genetic testing services
20141 citationsauthor #3
Impact of drought orders on Arctic charr. Annual report for 2012/2013
20140 citationsauthor #2
Newborn Screening for Congenital Hypothyroidism in India- Is OVERDUE
201420 citationsauthor #3
Rare fish issues in Cumbria. Final report
20140 citationsauthor #2
Correction of Methylmalonic Aciduria In Vivo Using a Codon-Optimized Lentiviral Vector
201420 citationsauthor #6
Faculty of 1000 evaluation for Mitochondrial dynamics--mitochondrial fission and fusion in human diseases.
20141 citationsauthor #1
Esthwaite Water fish community survey 2013. Final report
20140 citationsauthor #2
PReS-FINAL-2035: Fatty acid profiling: potential new biomarkers in JIA
20130 citationsauthor #3
Fasting citrulline concentrations are not predictive of absorptive function in the critically ill
20130 citationsauthor #6
Assessment and conservation of gwyniad (Coregonus lavaretus) in Llyn Tegid, U.K.: persistence in the face of eutrophication, water level fluctuations and ruffe (Gymnocephalus cernuus) introduction
20134 citationsauthor #2
Prostaglandin D2 in Inflammatory Arthritis and Its Relation with Synovial Fluid Dendritic Cells
201315 citationsauthor #4
Llyn Arenig Fawr gwyniad survey 2012. Draft final report
20130 citationsauthor #2
Rare fish issues in Cumbria. Progress report for period January to June 2013
20130 citationsauthor #2
Faculty Opinions recommendation of Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.
20130 citationsauthor #1
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.
201212 citationsauthor #5
Faculty Opinions recommendation of Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
20120 citationsauthor #1
Spring phytoplankton phenology: are patterns and drivers of change consistent among lakes in the same climatological region?
201264 citationsauthor #5
Positive steps for conservation of the vendace (Coregonus albula), the U.K.’s rarest freshwater fish
201216 citationsauthor #5
Inter-calibration of scientific echosounders for monitoring deep lake fish populations. Draft final report
20120 citationsauthor #2
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
2012126 citationsauthor #11
Neonatal screening for lysosomal storage disorders.
201217 citationsauthor #1
Dietary protein counting as an alternative way of maintaining metabolic control in phenylketonuria.
201216 citationsauthor #3
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
2012482 citationsauthor #12
Next-Generation Sequencing Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted
20120 citationsauthor #12
Rare fish issues in Cumbria. Progress report for period January to December 2012
20120 citationsauthor #2
Faculty of 1000 evaluation for Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.
20120 citationsauthor #1
Impact of drought orders on Arctic charr. Progress report for period April to November 2014
20120 citationsauthor #2
Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience.
201216 citationsauthor #8
Assessment of the fish community of Thirlmere. Final report
20120 citationsauthor #2
Long‐term changes in the diet of pike (Esox lucius), the top aquatic predator in a changing Windermere
201238 citationsauthor #2
Microarray is a valuable tool in investigation of fetal autopsy cases with at least one malformation
20120 citationsauthor #7
Six decades of pike and perch population dynamics in Windermere
201139 citationsauthor #5
Assessment of the fish community of Thirlmere. Progress Report for period July to September 2011.
20110 citationsauthor #2
Pathogen-induced rapid evolution in a vertebrate life-history trait
201139 citationsauthor #6
Enzyme replacement therapy "drug holiday": results from an unexpected shortage of an orphan drug supply in Australia.
201146 citationsauthor #2
Invasive fish species in the largest lakes of Scotland, Northern Ireland, Wales and England: the collective UK experience
201161 citationsauthor #2
Rare fish monitoring. Final Report
20110 citationsauthor #2
An overview of fish species introductions to the English Lake District, UK, an area of outstanding conservation and fisheries importance
201026 citationsauthor #2
Rare fish monitoring. Progress Report for Period July 2010 to November 2010
20100 citationsauthor #2
Further investigation of vendace spawning grounds in Derwent Water. Progress Report for Period November 2009 to January 2010
20100 citationsauthor #2
Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIA.
201029 citationsauthor #2
Population trends of Arctic charr (Salvelinus alpinus) in the UK: assessing the evidence for a widespread decline in response to climate change
201076 citationsauthor #3
The natural history and osteodystrophy of mucolipidosis types II and III
201045 citationsauthor #5
Llyn Arenig Fawr gwyniad survey 2012. Final report
20101 citationsauthor #2

PROFILE

PAPERS

TIMELINE

COAUTHOR MAP

CONCEPT FOOTPRINT