Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia E Greene, L Mahishi, A Entezam, D Kumari, K Usdin Nucleic acids research 35 (10), 3383-3390, 2007 | 253 | 2007 |
SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome R Biacsi, D Kumari, K Usdin PLoS genetics 4 (3), e1000017, 2008 | 110 | 2008 |
Interaction of the transcription factors USF1, USF2, and α-Pal/Nrf-1 with the FMR1 promoter: implications for fragile X mental retardation syndrome D Kumari, K Usdin Journal of Biological Chemistry 276 (6), 4357-4364, 2001 | 109 | 2001 |
The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome D Kumari, K Usdin Human molecular genetics 19 (23), 4634-4642, 2010 | 105 | 2010 |
Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells D Kumari, RE Biacsi, K Usdin Journal of Biological Chemistry 286 (6), 4209-4215, 2011 | 103 | 2011 |
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 | 96 | 2019 |
Somatic expansion in mouse and human carriers of fragile X premutation alleles RA Lokanga, A Entezam, D Kumari, D Yudkin, M Qin, CB Smith, K Usdin Human mutation 34 (1), 157-166, 2013 | 85 | 2013 |
High-throughput screening to identify compounds that increase fragile X mental retardation protein expression in neural stem cells differentiated from fragile X syndrome … D Kumari, M Swaroop, N Southall, W Huang, W Zheng, K Usdin Stem cells translational medicine 4 (7), 800-808, 2015 | 83 | 2015 |
Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles V Handa, D Goldwater, D Stiles, M Cam, G Poy, D Kumari, K Usdin FEBS letters 579 (12), 2702-2708, 2005 | 74 | 2005 |
Chromatin remodeling in the noncoding repeat expansion diseases D Kumari, K Usdin Journal of Biological Chemistry 284 (12), 7413-7417, 2009 | 67 | 2009 |
Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders XN Zhao, D Kumari, S Gupta, D Wu, M Evanitsky, W Yang, K Usdin Human molecular genetics 24 (24), 7087-7096, 2015 | 64 | 2015 |
Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs D Kumari, A Bhattacharya, J Nadel, K Moulton, NM Zeak, A Glicksman, ... Human mutation 35 (12), 1485-1494, 2014 | 58 | 2014 |
Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome D Yudkin, BE Hayward, MI Aladjem, D Kumari, K Usdin Human molecular genetics 23 (11), 2940-2952, 2014 | 48 | 2014 |
Is Friedreich ataxia an epigenetic disorder? D Kumari, K Usdin Clinical epigenetics 4 (1), 2, 2012 | 48 | 2012 |
CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons Y Zhou, D Kumari, N Sciascia, K Usdin Molecular autism 7, 1-13, 2016 | 43 | 2016 |
Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27 D Kumari, K Usdin Human Molecular Genetics 25 (17), 3689-3698, 2016 | 43 | 2016 |
The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter D Kumari, A Gabrielian, D Wheeler, K Usdin Biochemical Journal 386 (2), 297-303, 2005 | 43 | 2005 |
Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription D Kumari, K Usdin Human molecular genetics 23 (24), 6575-6583, 2014 | 42 | 2014 |
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders K Usdin, BE Hayward, D Kumari, RA Lokanga, N Sciascia, XN Zhao Frontiers in genetics 5, 226, 2014 | 42 | 2014 |
A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X–Related Disorders BE Hayward, Y Zhou, D Kumari, K Usdin The Journal of Molecular Diagnostics 18 (5), 762-774, 2016 | 36 | 2016 |