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Indhu‐Shree Rajan‐Babu

Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences
2021 · Readman Chiu, Indhu-Shree Rajan-Babu, et al. · Genome biology · 109
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Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
2024 · Indhu-Shree Rajan-Babu, Egor Dolzhenko, et al. · Nature Reviews Genetics · 93
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
2019 · André B.P. van Kuilenburg, Maja Tarailo-Graovac, et al. · New England Journal of Medicine · 92
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REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
2022 · Egor Dolzhenko, Ben Weisburd, et al. · Genome Medicine · 60
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Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
2021 · Indhu-Shree Rajan-Babu, Junran J. Peng, et al. · Genome Medicine · 54
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Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis
2015 · Indhu-Shree Rajan-Babu, Hai-Yang Law, et al. · Expert Reviews in Molecular Medicine · 31
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Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders
2016 · Indhu-Shree Rajan-Babu, Samuel Chong · Genes · 22
A comprehensive tandem repeat catalog of the human genome
2026 · Readman Chiu, Indhu-Shree Rajan-Babu, et al. · Nature Communications · 19
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Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis as a Rapid Screening Tool for Identifying Actionable FMR1 Genotypes
2013 · Clara RL Teo, Indhu-Shree Rajan-Babu, et al. · Clinical Chemistry · 17
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FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome
2017 · Indhu-Shree Rajan-Babu, Mulias Lian, et al. · Expert Reviews in Molecular Medicine · 16
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Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis ofFragile X Mental Retardation 1–related disorders
2015 · Indhu-Shree Rajan-Babu, Clara RL Teo, et al. · Expert Review of Molecular Diagnostics · 14
Triplet-Repeat Primed PCR and Capillary Electrophoresis for Characterizing the Fragile X Mental Retardation 1 CGG Repeat Hyperexpansions
2019 · Indhu-Shree Rajan-Babu, Samuel S. Chong · Methods in molecular biology · 13
Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
2017 · Grace X. Y. Lim, Minli Yeo, et al. · PLoS ONE · 12
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Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1
2015 · Grace X.Y. Lim, Yu Ling Loo, et al. · Journal of Molecular Diagnostics · 12
Efficient and Highly Sensitive Screen for Myotonic Dystrophy Type 1 Using a One-Step Triplet-Primed PCR and Melting Curve Assay
2015 · Mulias Lian, Indhu-Shree Rajan-Babu, et al. · Journal of Molecular Diagnostics · 10
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Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka
2015 · C. H. W. M. R. Bhagya Chandrasekara, W. S. Sulochana Wijesundera, et al. · PLoS ONE · 8
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Linked-read sequencing for detecting short tandem repeat expansions
2022 · Readman Chiu, Indhu-Shree Rajan-Babu, et al. · Scientific Reports · 7
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Defining the Performance Parameters of a Rapid Screening Tool for FMR1 CGG-Repeat Expansions Based on Direct Triplet-Primed PCR and Melt Curve Analysis
2016 · Indhu-Shree Rajan-Babu, Mulias Lian, et al. · Journal of Molecular Diagnostics · 7
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Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
2026 · Ben Weisburd, Egor Dolzhenko, et al. · The American Journal of Human Genetics · 5
High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes
2022 · Indhu-Shree Rajan-Babu, Gui-Ping Phang, et al. · Journal of Molecular Diagnostics · 3
Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
2021 · Indhu-Shree Rajan-Babu, Junran J. Peng, et al. · Genome Medicine · 3
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Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
2026 · Saurav Guha, Indhu-Shree Rajan-Babu, et al. · Genetics in Medicine · 2
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A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation
2023 · Leah P. Macfadyen, Jehannine Austin, et al. · Journal of Genetic Counseling · 2
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Triplet‐Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification
2022 · Indhu‐Shree Rajan‐Babu, Mulias Lian, et al. · Current Protocols · 2
Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insights
2025 · Indhu-Shree Rajan-Babu, Readman Chiu, et al. · medRxiv · 1
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Works count: 39
Citation count: 618
H-index: 12
I10-index: 15
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