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Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

Genetics in medicine, 2019-03, Vol.21 (3), p.753-757

2019

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Trait changes in a harvested population are driven by a dynamic tug-of-war between natural and harvest selection

Proceedings of the National Academy of Sciences - PNAS, 2007-10, Vol.104 (40), p.15799-15804

2007

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Enzyme replacement therapy “drug holiday”: Results from an unexpected shortage of an orphan drug supply in Australia

Blood cells, molecules, & diseases, 2011-01, Vol.46 (1), p.107-110

2011

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Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100697-100697, Article 100697

2020

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Screening for lysosomal storage disorders—A clinical perspective

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.405-408

Fletcher, Janice M.

2006

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ideal free pike: 50 years of fitness-maximizing dispersal in Windermere

Proceedings of the Royal Society. B, Biological sciences, 2006-12, Vol.273 (1604), p.2917-2924

2006

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Four decades of opposing natural and human-induced artificial selection acting on Windermere pike (Esox lucius)

Ecology letters, 2007-06, Vol.10 (6), p.512-521

2007

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De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Annals of neurology, 2004-01, Vol.55 (1), p.58-64

2004

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Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

JIMD reports, 2020-09, Vol.55 (1), p.68-74

2020

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

Science translational medicine, 2012-01, Vol.4 (118), p.118ra10

2012

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Expanding the clinical utility of glucosylsphingosine for Gaucher disease

Journal of inherited metabolic disease, 2020-05, Vol.43 (3), p.558-563

2020

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A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease

Molecular genetics and metabolism, 2017-09, Vol.122 (1-2), p.121-125

2017

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Antagonistic selection from predators and pathogens alters food-web structure

Proceedings of the National Academy of Sciences - PNAS, 2008-12, Vol.105 (50), p.19792-19796

2008

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Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA

Pediatric research, 2006-09, Vol.60 (3), p.309-314

2006

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Harvest-induced disruptive selection increases variance in fitness-related traits

Proceedings of the Royal Society. B, Biological sciences, 2009-12, Vol.276 (1676), p.4163-4171

2009

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Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool

Clinica chimica acta, 2015-10, Vol.450, p.6-10

2015

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Isolated autism is not an indication for Smith–Lemli–Opitz syndrome biochemical testing

Journal of paediatrics and child health, 2022-04, Vol.58 (4), p.630-635

2022

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Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services

Australian & New Zealand journal of obstetrics & gynaecology, 2024-04

2024

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Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy

Analytica chimica acta, 2017-02, Vol.955, p.79-85

2017

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Long-term changes in the diet of pike (Esox lucius), the top aquatic predator in a changing Windermere

Freshwater biology, 2012-02, Vol.57 (2), p.373-383

2012

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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Med (New York, N.Y. : Online), 2021-01, Vol.2 (1), p.49-73.e10

2021

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The 'reappearance' of vendace (Coregonus albula) in the face of multiple stressors in Bassenthwaite Lake, U. K

Fundamental and applied limnology, 2017-02, Vol.189 (3), p.227-233

2017

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Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector

Human gene therapy, 2014-06, Vol.25 (6), p.529-538

2014

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Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

Npj genomic medicine, 2019-11, Vol.4 (1), p.1-8, Article 28

2019

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Arctic charr (Salvelinus alpinus) populations of Windermere, UK: population trends associated with eutrophication, climate change and increased abundance of roach (Rutilus rutilus)

Environmental biology of fishes, 2008-09, Vol.83 (1), p.25-35

2008

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Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

Trait changes in a harvested population are driven by a dynamic tug-of-war between natural and harvest selection

Enzyme replacement therapy “drug holiday”: Results from an unexpected shortage of an orphan drug supply in Australia

Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy

Screening for lysosomal storage disorders—A clinical perspective

ideal free pike: 50 years of fitness-maximizing dispersal in Windermere

Four decades of opposing natural and human-induced artificial selection acting on Windermere pike (Esox lucius)

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

Expanding the clinical utility of glucosylsphingosine for Gaucher disease

A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease

Antagonistic selection from predators and pathogens alters food-web structure

Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA

Harvest-induced disruptive selection increases variance in fitness-related traits

Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool

Isolated autism is not an indication for Smith–Lemli–Opitz syndrome biochemical testing

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services

Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy

Long-term changes in the diet of pike (Esox lucius), the top aquatic predator in a changing Windermere

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

The 'reappearance' of vendace (Coregonus albula) in the face of multiple stressors in Bassenthwaite Lake, U. K

Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

Arctic charr (Salvelinus alpinus) populations of Windermere, UK: population trends associated with eutrophication, climate change and increased abundance of roach (Rutilus rutilus)

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