Michael A Eberle

Michael A Eberle

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Michael A Eberle

Michael A Eberle

Publications by authors named "Michael A Eberle"

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Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

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http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

Allele frequency matching between SNPs reveals an excess of linkage disequilibrium in genic regions of the human genome.

PLoS Genet 2006 Sep 25;2(9):e142. Epub 2006 Jul 25.

Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.0020142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1560400PMC
September 2006

Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus.

Hum Genet 2006 Apr 20;119(3):255-66. Epub 2006 Jan 20.

Department of Genome Sciences, University of Washington, 357730, Seattle, WA, 98195-7730, USA.

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http://dx.doi.org/10.1007/s00439-005-0111-zDOI Listing
April 2006

Genomic regions exhibiting positive selection identified from dense genotype data.

Genome Res 2005 Nov;15(11):1553-65

Department of Genome Sciences, University of Washington, Seattle, Washington 98195-7730, USA.

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http://dx.doi.org/10.1101/gr.4326505DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1310643PMC
November 2005

Extensive and breed-specific linkage disequilibrium in Canis familiaris.

Genome Res 2004 Dec 15;14(12):2388-96. Epub 2004 Nov 15.

Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109-1024, USA.

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http://dx.doi.org/10.1101/gr.3147604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC534662PMC
December 2004

Population history and natural selection shape patterns of genetic variation in 132 genes.

PLoS Biol 2004 Oct 7;2(10):e286. Epub 2004 Sep 7.

Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.

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http://dx.doi.org/10.1371/journal.pbio.0020286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC515367PMC
October 2004

Mapping complex disease loci in whole-genome association studies.

Nature 2004 May;429(6990):446-52

Department of Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, Washington 98195-7730, USA.

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http://dx.doi.org/10.1038/nature02623DOI Listing
May 2004

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans.

Nat Genet 2003 Apr 24;33(4):518-21. Epub 2003 Mar 24.

Department of Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, Washington 98195-7730, USA.

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http://dx.doi.org/10.1038/ng1128DOI Listing
April 2003

Sequence variation in the human T-cell receptor loci.

Immunol Rev 2002 Dec;190:26-39

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1034/j.1600-065x.2002.19003.xDOI Listing
December 2002