High‐Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient‐Derived Induced Pluripotent Stem Cells
Kumari, Daman, Swaroop, Manju, Southall, Noel, Huang, Wenwei, Zheng, Wei, Usdin, Karen
Published in Stem cells translational medicine (01.07.2015)
Published in Stem cells translational medicine (01.07.2015)
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Journal Article
Repeat Expansion Affects Both Transcription Initiation and Elongation in Friedreich Ataxia Cells
Kumari, Daman, Biacsi, Rea Erika, Usdin, Karen
Published in The Journal of biological chemistry (11.02.2011)
Published in The Journal of biological chemistry (11.02.2011)
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Journal Article
All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency
Hayward, Bruce, Kumari, Daman, Santra, Saikat, van Karnebeek, Clara D. M., van Kuilenburg, André B. P., Usdin, Karen
Published in Scientific reports (14.06.2024)
Published in Scientific reports (14.06.2024)
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Journal Article
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
van Kuilenburg, André B.P, Tarailo-Graovac, Maja, Richmond, Phillip A, Drögemöller, Britt I, Pouladi, Mahmoud A, Leen, René, Brand-Arzamendi, Koroboshka, Dobritzsch, Doreen, Dolzhenko, Egor, Eberle, Michael A, Hayward, Bruce, Jones, Meaghan J, Karbassi, Farhad, Kobor, Michael S, Koster, Janet, Kumari, Daman, Li, Meng, MacIsaac, Julia, McDonald, Cassandra, Meijer, Judith, Nguyen, Charlotte, Rajan-Babu, Indhu-Shree, Scherer, Stephen W, Sim, Bernice, Trost, Brett, Tseng, Laura A, Turkenburg, Marjolein, van Vugt, Joke J.F.A, Veldink, Jan H, Walia, Jagdeep S, Wang, Youdong, van Weeghel, Michel, Wright, Galen E.B, Xu, Xiaohong, Yuen, Ryan K.C, Zhang, Jinqiu, Ross, Colin J, Wasserman, Wyeth W, Geraghty, Michael T, Santra, Saikat, Wanders, Ronald J.A, Wen, Xiao-Yan, Waterham, Hans R, Usdin, Karen, van Karnebeek, Clara D.M
Published in The New England journal of medicine (11.04.2019)
Published in The New England journal of medicine (11.04.2019)
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Journal Article
Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles
Lokanga, Rachel Adihe, Entezam, Ali, Kumari, Daman, Yudkin, Dmitry, Qin, Mei, Smith, Carolyn Beebe, Usdin, Karen
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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Journal Article
Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome
Yudkin, Dmitry, Hayward, Bruce E., Aladjem, Mirit I., Kumari, Daman, Usdin, Karen
Published in Human molecular genetics (01.06.2014)
Published in Human molecular genetics (01.06.2014)
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Journal Article
Identification of Fragile X Syndrome Specific Molecular Markers in Human Fibroblasts: A Useful Model to Test the Efficacy of Therapeutic Drugs
Kumari, Daman, Bhattacharya, Aditi, Nadel, Jeffrey, Moulton, Kristen, Zeak, Nicole M., Glicksman, Anne, Dobkin, Carl, Brick, David J., Schwartz, Philip H., Smith, Carolyn B., Klann, Eric, Usdin, Karen
Published in Human mutation (01.12.2014)
Published in Human mutation (01.12.2014)
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Journal Article
Intersection of the fragile X-related disorders and the DNA damage response
Kumari, Daman, Grant-Bier, Jessalyn, Kadyrov, Farid, Usdin, Karen
Published in DNA repair (01.12.2024)
Published in DNA repair (01.12.2024)
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Journal Article