Publications by authors named "Lisa G Riley"

27Publications

Biallelic variants in and cause deafness and (ovario)leukodystrophy.

Neurology 2019 03 8;92(11):e1225-e1237. Epub 2019 Feb 8.

From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000007098DOI Listing
March 2019

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Mol Genet Metab 2019 01 11;126(1):77-82. Epub 2018 Dec 11.

Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.002DOI Listing
January 2019

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

PLoS One 2017 8;12(6):e0178125. Epub 2017 Jun 8.

Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0178125PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464557PMC
September 2017

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Am J Med Genet A 2017 Aug 2;173(8):2246-2250. Epub 2017 Jun 2.

Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38292DOI Listing
August 2017

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

J Inherit Metab Dis 2017 03 19;40(2):261-269. Epub 2016 Dec 19.

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, KRI, Level 3, Locked Bag 4001, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s10545-016-0010-6DOI Listing
March 2017

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Hum Mol Genet 2015 Apr 2;24(8):2297-307. Epub 2015 Jan 2.

Genetic Metabolic Disorders Research Unit, Discipline of Paediatrics and Child Health and Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2006, Australia,

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http://dx.doi.org/10.1093/hmg/ddu747DOI Listing
April 2015

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

PLoS One 2014 12;9(8):e104879. Epub 2014 Aug 12.

Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia; Departments of Integrative Systems Biology and Pediatrics, George Washington University School of Medicine, Washington, D.C., United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0104879PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4130626PMC
April 2016

The influence of protein fractions from bovine colostrum digested in vivo and in vitro on human intestinal epithelial cell proliferation.

J Dairy Res 2014 Feb;81(1):73-81

Faculty of Veterinary Science, University of Sydney, Sydney, NSW 2006, Australia.

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http://dx.doi.org/10.1017/S0022029913000654DOI Listing
February 2014

Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine.

Biochim Biophys Acta 2014 Apr 28;1840(4):1368-79. Epub 2013 Dec 28.

Disciplines of Paediatrics and Child Health, Sydney Medical School, University of Sydney, New South Wales, Australia; Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Sydney, NSW, Australia; Genetic Medicine, Sydney Medical School, University of Sydney, New South Wales, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03044165130055
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http://dx.doi.org/10.1016/j.bbagen.2013.12.025DOI Listing
April 2014

The role of native bovine alpha-lactalbumin in bovine mammary epithelial cell apoptosis and casein expression.

J Dairy Res 2008 Aug;75(3):319-25

Centre for Advanced Technologies in Animal Genetics and Reproduction (ReproGen), Faculty of Veterinary Science, University of Sydney, Camden, NSW 2570, Australia.

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http://dx.doi.org/10.1017/S0022029908003403DOI Listing
August 2008

Lactoferrin decreases primary bovine mammary epithelial cell viability and casein expression.

J Dairy Res 2008 May 29;75(2):135-41. Epub 2008 Jan 29.

Centre for Advanced Technologies in Animal Reproduction and Genetics, Faculty of Veterinary Science, University of Sydney, Australia.

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http://dx.doi.org/10.1017/S0022029907002920DOI Listing
May 2008

A radioassay for synaptic core complex assembly: screening of herbal extracts for effectors.

Anal Biochem 2006 Oct 13;357(1):50-7. Epub 2006 Jun 13.

School of Molecular and Microbial Biosciences, University of Sydney, Sydney, NSW 2006, Australia.

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http://dx.doi.org/10.1016/j.ab.2006.05.036DOI Listing
October 2006