Indhu-Shree Rajan-Babu

Indhu-Shree Rajan-Babu

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Indhu-Shree Rajan-Babu

Indhu-Shree Rajan-Babu

Publications by authors named "Indhu-Shree Rajan-Babu"

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Triplet-Repeat Primed PCR and Capillary Electrophoresis for Characterizing the Fragile X Mental Retardation 1 CGG Repeat Hyperexpansions.

Methods Mol Biol 2019 ;1972:199-210

Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.

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http://dx.doi.org/10.1007/978-1-4939-9213-3_14DOI Listing
August 2019

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

Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.

Genes (Basel) 2016 Oct 14;7(10). Epub 2016 Oct 14.

Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119074, Singapore.

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http://dx.doi.org/10.3390/genes7100087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083926PMC
October 2016

Defining the Performance Parameters of a Rapid Screening Tool for FMR1 CGG-Repeat Expansions Based on Direct Triplet-Primed PCR and Melt Curve Analysis.

J Mol Diagn 2016 09 1;18(5):719-730. Epub 2016 Jul 1.

Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore; Department of Laboratory Medicine, National University Hospital, National University Health System, Singapore, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.05.002DOI Listing
September 2016

Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.

Expert Rev Mol Med 2015 May 4;17:e7. Epub 2015 May 4.

Department of Pediatrics,Yong Loo Lin School of Medicine,National University of Singapore,Singapore,Singapore.

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http://dx.doi.org/10.1017/erm.2015.5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836207PMC
May 2015

Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.

Expert Rev Mol Diagn 2015 Mar 12;15(3):431-41. Epub 2015 Jan 12.

Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119074, Singapore.

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http://www.tandfonline.com/doi/full/10.1586/14737159.2015.10
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http://dx.doi.org/10.1586/14737159.2015.1001749DOI Listing
March 2015

Efficient and highly sensitive screen for myotonic dystrophy type 1 using a one-step triplet-primed PCR and melting curve assay.

J Mol Diagn 2015 Mar;17(2):128-35

Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Khoo Teck Puat - National University Children's Medical Institute, National University Health System, Singapore; Department of Laboratory Medicine, National University Hospital, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2014.10.001DOI Listing
March 2015