Rajan-Babu IS - Search Results

1

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.

Rajan-Babu IS, Peng JJ, Chiu R; IMAGINE Study; CAUSES Study; Li C, Mohajeri A, Dolzhenko E, Eberle MA, Birol I, Friedman JM. Rajan-Babu IS, et al. Genome Med. 2021 Aug 9;13(1):126. doi: 10.1186/s13073-021-00932-9. Genome Med. 2021. PMID: 34372915 Free PMC article.

2

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM. van Kuilenburg ABP, et al. N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627. N Engl J Med. 2019. PMID: 30970188 Free PMC article.

3

Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences.

Chiu R, Rajan-Babu IS, Friedman JM, Birol I. Chiu R, et al. Among authors: rajan babu is. Genome Biol. 2021 Aug 13;22(1):224. doi: 10.1186/s13059-021-02447-3. Genome Biol. 2021. PMID: 34389037 Free PMC article.

4

Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.

Rajan-Babu IS, Peng JJ, Chiu R; IMAGINE Study; CAUSES Study; Li C, Mohajeri A, Dolzhenko E, Eberle MA, Birol I, Friedman JM. Rajan-Babu IS, et al. Genome Med. 2021 Sep 13;13(1):151. doi: 10.1186/s13073-021-00961-4. Genome Med. 2021. PMID: 34517885 Free PMC article. No abstract available.

5

Linked-read sequencing for detecting short tandem repeat expansions.

Chiu R, Rajan-Babu IS, Birol I, Friedman JM. Chiu R, et al. Among authors: rajan babu is. Sci Rep. 2022 Jun 7;12(1):9352. doi: 10.1038/s41598-022-13024-4. Sci Rep. 2022. PMID: 35672336 Free PMC article.

6

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.

Dolzhenko E, Weisburd B, Ibañez K, Rajan-Babu IS, Anyansi C, Bennett MF, Billingsley K, Carroll A, Clamons S, Danzi MC, Deshpande V, Ding J, Fazal S, Halman A, Jadhav B, Qiu Y, Richmond PA, Saunders CT, Scheffler K, van Vugt JJFA, Zwamborn RRAJ; Genomics England Research Consortium; Chong SS, Friedman JM, Tucci A, Rehm HL, Eberle MA. Dolzhenko E, et al. Among authors: rajan babu is. Genome Med. 2022 Aug 11;14(1):84. doi: 10.1186/s13073-022-01085-z. Genome Med. 2022. PMID: 35948990 Free PMC article.

7

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

Rajan-Babu IS, Lian M, Tran AH, Dang TT, Le HT, Thanh MN, Lee CG, Chong SS. Rajan-Babu IS, et al. J Mol Diagn. 2016 Sep;18(5):719-730. doi: 10.1016/j.jmoldx.2016.05.002. Epub 2016 Jul 1. J Mol Diagn. 2016. PMID: 27375073 Free article.

8

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

Rajan-Babu IS, Chong SS. Rajan-Babu IS, et al. Methods Mol Biol. 2019;1972:199-210. doi: 10.1007/978-1-4939-9213-3_14. Methods Mol Biol. 2019. PMID: 30847793

9

High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes.

Rajan-Babu IS, Phang GP, Law HY, Lee CG, Chong SS. Rajan-Babu IS, et al. J Mol Diagn. 2022 Mar;24(3):241-252. doi: 10.1016/j.jmoldx.2021.11.007. Epub 2022 Jan 14. J Mol Diagn. 2022. PMID: 35038595 Free article.

10

Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1.

Lim GX, Loo YL, Mundhofir FE, Cayami FK, Faradz SM, Rajan-Babu IS, Chong SS, Koh YY, Guan M. Lim GX, et al. J Mol Diagn. 2015 May;17(3):302-14. doi: 10.1016/j.jmoldx.2014.12.005. Epub 2015 Mar 14. J Mol Diagn. 2015. PMID: 25776194 Free article.

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