Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
Bick, David, Jones, Marilyn, Taylor, Stacie L, Taft, Ryan J, Belmont, John
Published in Journal of medical genetics (01.12.2019)
Published in Journal of medical genetics (01.12.2019)
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Journal Article
Non-coding RNAs: regulators of disease
Taft, Ryan J, Pang, Ken C, Mercer, Timothy R, Dinger, Marcel, Mattick, John S
Published in The Journal of pathology (01.01.2010)
Published in The Journal of pathology (01.01.2010)
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Journal Article
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
Dolzhenko, Egor, Deshpande, Viraj, Schlesinger, Felix, Krusche, Peter, Petrovski, Roman, Chen, Sai, Emig-Agius, Dorothea, Gross, Andrew, Narzisi, Giuseppe, Bowman, Brett, Scheffler, Konrad, van Vugt, Joke J F A, French, Courtney, Sanchis-Juan, Alba, Ibáñez, Kristina, Tucci, Arianna, Lajoie, Bryan R, Veldink, Jan H, Raymond, F Lucy, Taft, Ryan J, Bentley, David R, Eberle, Michael A
Published in Bioinformatics (01.11.2019)
Published in Bioinformatics (01.11.2019)
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Journal Article
The reality of pervasive transcription
Clark, Michael B, Amaral, Paulo P, Schlesinger, Felix J, Dinger, Marcel E, Taft, Ryan J, Rinn, John L, Ponting, Chris P, Stadler, Peter F, Morris, Kevin V, Morillon, Antonin, Rozowsky, Joel S, Gerstein, Mark B, Wahlestedt, Claes, Hayashizaki, Yoshihide, Carninci, Piero, Gingeras, Thomas R, Mattick, John S
Published in PLoS biology (01.07.2011)
Published in PLoS biology (01.07.2011)
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Journal Article
Estimating the burden and economic impact of pediatric genetic disease
Gonzaludo, Nina, Belmont, John W, Gainullin, Vladimir G, Taft, Ryan J
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
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Journal Article
MicroRNAs in β-Cell Biology, Insulin Resistance, Diabetes and Its Complications
FERNANDEZ-VALVERDE, Selene L, TAFT, Ryan J, MATTICK, John S
Published in Diabetes (New York, N.Y.) (01.07.2011)
Published in Diabetes (New York, N.Y.) (01.07.2011)
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Journal Article
Small RNAs derived from snoRNAs
Taft, Ryan J, Glazov, Evgeny A, Lassmann, Timo, Hayashizaki, Yoshihide, Carninci, Piero, Mattick, John S
Published in RNA (Cambridge) (01.07.2009)
Published in RNA (Cambridge) (01.07.2009)
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Journal Article
Genome-wide discovery of human splicing branchpoints
Mercer, Tim R, Clark, Michael B, Andersen, Stacey B, Brunck, Marion E, Haerty, Wilfried, Crawford, Joanna, Taft, Ryan J, Nielsen, Lars K, Dinger, Marcel E, Mattick, John S
Published in Genome research (01.02.2015)
Published in Genome research (01.02.2015)
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Journal Article
Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data
Chen, Xiao, Shen, Fei, Gonzaludo, Nina, Malhotra, Alka, Rogert, Cande, Taft, Ryan J, Bentley, David R, Eberle, Michael A
Published in The pharmacogenomics journal (01.04.2021)
Published in The pharmacogenomics journal (01.04.2021)
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Journal Article
Optimized deep-targeted proteotranscriptomic profiling reveals unexplored Conus toxin diversity and novel cysteine frameworks
Lavergne, Vincent, Harliwong, Ivon, Jones, Alun, Miller, David, Taft, Ryan J, Alewood, Paul F
Published in Proceedings of the National Academy of Sciences - PNAS (21.07.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (21.07.2015)
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Journal Article
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
Dolzhenko, Egor, Bennett, Mark F, Richmond, Phillip A, Trost, Brett, Chen, Sai, van Vugt, Joke J F A, Nguyen, Charlotte, Narzisi, Giuseppe, Gainullin, Vladimir G, Gross, Andrew M, Lajoie, Bryan R, Taft, Ryan J, Wasserman, Wyeth W, Scherer, Stephen W, Veldink, Jan H, Bentley, David R, Yuen, Ryan K C, Bahlo, Melanie, Eberle, Michael A
Published in Genome Biology (28.04.2020)
Published in Genome Biology (28.04.2020)
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Journal Article
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
Simons, Cas, Wolf, Nicole I., McNeil, Nathan, Caldovic, Ljubica, Devaney, Joseph M., Takanohashi, Asako, Crawford, Joanna, Ru, Kelin, Grimmond, Sean M., Miller, David, Tonduti, Davide, Schmidt, Johanna L., Chudnow, Robert S., van Coster, Rudy, Lagae, Lieven, Kisler, Jill, Sperner, Jürgen, van der Knaap, Marjo S., Schiffmann, Raphael, Taft, Ryan J., Vanderver, Adeline
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Journal Article
Dynamic isomiR regulation in Drosophila development
Fernandez-Valverde, Selene L, Taft, Ryan J, Mattick, John S
Published in RNA (Cambridge) (01.10.2010)
Published in RNA (Cambridge) (01.10.2010)
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Journal Article
DNA methylation regulates discrimination of enhancers from promoters through a H3K4me1-H3K4me3 seesaw mechanism
Sharifi-Zarchi, Ali, Gerovska, Daniela, Adachi, Kenjiro, Totonchi, Mehdi, Pezeshk, Hamid, Taft, Ryan J, Schöler, Hans R, Chitsaz, Hamidreza, Sadeghi, Mehdi, Baharvand, Hossein, Araúzo-Bravo, Marcos J
Published in BMC genomics (12.12.2017)
Published in BMC genomics (12.12.2017)
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Journal Article
Targeted sequencing for gene discovery and quantification using RNA CaptureSeq
Mercer, Tim R, Clark, Michael B, Crawford, Joanna, Brunck, Marion E, Gerhardt, Daniel J, Taft, Ryan J, Nielsen, Lars K, Dinger, Marcel E, Mattick, John S
Published in Nature protocols (01.05.2014)
Published in Nature protocols (01.05.2014)
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Journal Article
Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
Simons, Cas, Griffin, Laurie B., Helman, Guy, Golas, Gretchen, Pizzino, Amy, Bloom, Miriam, Murphy, Jennifer L.P., Crawford, Joanna, Evans, Sarah H., Topper, Scott, Whitehead, Matthew T., Schreiber, John M., Chapman, Kimberly A., Tifft, Cyndi, Lu, Katrina B., Gamper, Howard, Shigematsu, Megumi, Taft, Ryan J., Antonellis, Anthony, Hou, Ya-Ming, Vanderver, Adeline
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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Journal Article