Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome
Xie, Nina, Gong, He, Suhl, Joshua A, Chopra, Pankaj, Wang, Tao, Warren, Stephen T
Published in PloS one (21.10.2016)
Published in PloS one (21.10.2016)
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Journal Article
Identification of consensus binding sites clarifies FMRP binding determinants
Anderson, Bart R, Chopra, Pankaj, Suhl, Joshua A, Warren, Stephen T, Bassell, Gary J
Published in Nucleic acids research (19.08.2016)
Published in Nucleic acids research (19.08.2016)
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Journal Article
Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences
Suhl, Joshua A, Chopra, Pankaj, Anderson, Bart R, Bassell, Gary J, Warren, Stephen T
Published in Human molecular genetics (15.10.2014)
Published in Human molecular genetics (15.10.2014)
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Journal Article
Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures
Myrick, Leila K, Deng, Pan-Yue, Hashimoto, Hideharu, Oh, Young Mi, Cho, Yongcheol, Poidevin, Mickael J, Suhl, Joshua A, Visootsak, Jeannie, Cavalli, Valeria, Jin, Peng, Cheng, Xiaodong, Warren, Stephen T, Klyachko, Vitaly A
Published in Proceedings of the National Academy of Sciences - PNAS (27.01.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (27.01.2015)
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Journal Article
A 3′ untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR
Suhl, Joshua A, Muddashetty, Ravi S, Anderson, Bart R, Ifrim, Marius F, Visootsak, Jeannie, Bassell, Gary J, Warren, Stephen T
Published in Proceedings of the National Academy of Sciences - PNAS (24.11.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (24.11.2015)
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Journal Article
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males
Collins, Stephen C., Bray, Steven M., Suhl, Joshua A., Cutler, David J., Coffee, Bradford, Zwick, Michael E., Warren, Stephen T.
Published in American journal of medical genetics. Part A (01.10.2010)
Published in American journal of medical genetics. Part A (01.10.2010)
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Journal Article
Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory
Gardner, Sabrina A, Weymouth, Katelyn S, Kelly, Wei S, Bogdanova, Ekaterina, Chen, Wenjie, Lupu, Daniel, Suhl, Joshua, Zeng, Qiandong, Geigenmüller, Ute, Boles, Debbie, Okamoto, Patricia M, McDowell, Geraldine, Hayden, Melissa A, Nagan, Narasimhan
Published in Hereditary cancer in clinical practice (04.01.2018)
Published in Hereditary cancer in clinical practice (04.01.2018)
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Journal Article
A catalog of hemizygous variation in 127 22q11 deletion patients
Hestand, Matthew S, Nowakowska, Beata A, Vergaelen, Elfi, Van Houdt, Jeroen, Dehaspe, Luc, Suhl, Joshua A, Del-Favero, Jurgen, Mortier, Geert, Zackai, Elaine, Swillen, Ann, Devriendt, Koenraad, Gur, Raquel E, McDonald-McGinn, Donna M, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R
Published in Human genome variation (14.01.2016)
Published in Human genome variation (14.01.2016)
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Journal Article
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
McDonald-McGinn, Donna M, Fahiminiya, Somayyeh, Revil, Timothée, Nowakowska, Beata A, Suhl, Joshua, Bailey, Alice, Mlynarski, Elisabeth, Lynch, David R, Yan, Albert C, Bilaniuk, Larissa T, Sullivan, Kathleen E, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R, Zackai, Elaine H, Jerome-Majewska, Loydie A
Published in Journal of medical genetics (01.02.2013)
Published in Journal of medical genetics (01.02.2013)
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Journal Article
A 3′ untranslated region variant inFMR1eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR
Suhl, Joshua A., Muddashetty, Ravi S., Anderson, Bart R., Ifrim, Marius F., Visootsak, Jeannie, Bassell, Gary J., Warren, Stephen T.
Published in Proceedings of the National Academy of Sciences - PNAS (24.11.2015)
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Published in Proceedings of the National Academy of Sciences - PNAS (24.11.2015)
Journal Article
Independent role for presynaptic FMRP revealed by anFMR1missense mutation associated with intellectual disability and seizures
Myrick, Leila K., Deng, Pan-Yue, Hashimoto, Hideharu, Oh, Young Mi, Cho, Yongcheol, Poidevin, Mickael J., Suhl, Joshua A., Visootsak, Jeannie, Cavalli, Valeria, Jin, Peng, Cheng, Xiaodong, Warren, Stephen T., Klyachko, Vitaly A.
Published in Proceedings of the National Academy of Sciences - PNAS (27.01.2015)
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Published in Proceedings of the National Academy of Sciences - PNAS (27.01.2015)
Journal Article
The short chain fatty acid butyrate induces promoter demethylation and reactivation of RARbeta2 in colon cancer cells
Spurling, Colleen C, Suhl, Joshua A, Boucher, Nathalie, Nelson, Craig E, Rosenberg, Daniel W, Giardina, Charles
Published in Nutrition and cancer (2008)
Published in Nutrition and cancer (2008)
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