| Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications IS Rajan-Babu, E Dolzhenko, MA Eberle, JM Friedman Nature Reviews Genetics, 1-24, 2024 | 3 | 2024 |
| A comprehensive tandem repeat catalog of the human genome R Chiu, IS Rajan Babu, JM Friedman, I Birol medRxiv, 2024.06. 19.24309173, 2024 | | 2024 |
| A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation LP Macfadyen, J Austin, P Cao, J Cheng, C Cremin, L Duong, AM Elliott, ... Journal of Genetic Counseling 32 (6), 1280-1287, 2023 | | 2023 |
| Triplet-primed PCR and Melting Curve Analysis for Rapid Molecular Screening of Spinocerebellar Ataxia Types 1, 2, and 3 M Lian, M Zhao, GP Phang, IS Rajan-Babu, SS Chong Bio-protocol 13 (12), 2023 | 1 | 2023 |
| REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats E Dolzhenko, B Weisburd, K Ibañez, IS Rajan-Babu, C Anyansi, ... Genome medicine 14 (1), 84, 2022 | 22 | 2022 |
| Linked-read sequencing for detecting short tandem repeat expansions R Chiu, IS Rajan-Babu, I Birol, JM Friedman Scientific Reports 12 (1), 9352, 2022 | 4 | 2022 |
| Triplet‐Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification IS Rajan‐Babu, M Lian, SS Chong Current Protocols 2 (5), e427, 2022 | 3 | 2022 |
| High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes IS Rajan-Babu, GP Phang, HY Law, CG Lee, SS Chong The Journal of Molecular Diagnostics 24 (3), 241-252, 2022 | | 2022 |
| Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions IS Rajan-Babu, JJ Peng, R Chiu, ... Genome medicine 13, 1-15, 2021 | 33 | 2021 |
| Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences R Chiu, IS Rajan-Babu, JM Friedman, I Birol Genome Biology 22 (1), 224, 2021 | 38 | 2021 |
| IMAGINE Study, CAUSES Study IS Rajan-Babu, JJ Peng, R Chiu, C Li, A Mohajeri, E Dolzhenko, ... Genome-Wide sequencing as a first-tier screening test for short tandem …, 2021 | 6 | 2021 |
| Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS ABP van Kuilenburg, M Tarailo-Graovac, PA Richmond, BI Drögemöller, ... New England Journal of Medicine 380 (15), 1433-1441, 2019 | 87 | 2019 |
| Triplet-repeat primed PCR and capillary electrophoresis for characterizing the fragile X mental retardation 1 CGG repeat hyperexpansions IS Rajan-Babu, SS Chong Clinical Applications of Capillary Electrophoresis: Methods and Protocols …, 2019 | 10 | 2019 |
| High confidence preimplantation genetic diagnosis of fragile X syndrome-direct detection of the FMR1 CGG repeat expansion mutation combined with linked multi-marker haplotype … I Rajan-Babu, M Lian, FSH Cheah, M Chen, ASC Tan, EB Prasath, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 132-133, 2018 | | 2018 |
| Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene GXY Lim, M Yeo, YY Koh, TI Winarni, IS Rajan-Babu, SS Chong, ... PLoS One 12 (3), e0173279, 2017 | 15 | 2017 |
| FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome IS Rajan-Babu, M Lian, FSH Cheah, M Chen, ASC Tan, EB Prasath, ... Expert Reviews in Molecular Medicine 19, e10, 2017 | 16 | 2017 |
| Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders IS Rajan-Babu, SS Chong Genes 7 (10), 87, 2016 | 19 | 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 IS Rajan-Babu, M Lian, AH Tran, TT Dang, HTM Le, MN Thanh, CG Lee, ... The Journal of Molecular Diagnostics 18 (5), 719-730, 2016 | 7 | 2016 |
| Cascade screening for fragile X syndrome/CGG repeat expansions in children attending special education in Sri Lanka CB Chandrasekara, WSS Wijesundera, HN Perera, SS Chong, ... PloS one 10 (12), e0145537, 2015 | 9 | 2015 |
| Validation of a commercially available screening tool for the rapid identification of CGG trinucleotide repeat expansions in FMR1 GXY Lim, YL Loo, FEP Mundhofir, FK Cayami, SMH Faradz, ... The Journal of Molecular Diagnostics 17 (3), 302-314, 2015 | 18 | 2015 |
