Literature DB >> 23995684

Autism: A long genetic explanation.

Robert N Plasschaert, Marisa S Bartolomei.   

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Year:  2013        PMID： 23995684     DOI： 10.1038/nature12553

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  8 in total

1.  UBE3A/E6-AP mutations cause Angelman syndrome.

Authors:  T Kishino; M Lalande; J Wagstaff
Journal:  Nat Genet       Date:  1997-01       Impact factor: 38.330

2.  De novo gene disruptions in children on the autistic spectrum.

Authors:  Ivan Iossifov; Michael Ronemus; Dan Levy; Zihua Wang; Inessa Hakker; Julie Rosenbaum; Boris Yamrom; Yoon-Ha Lee; Giuseppe Narzisi; Anthony Leotta; Jude Kendall; Ewa Grabowska; Beicong Ma; Steven Marks; Linda Rodgers; Asya Stepansky; Jennifer Troge; Peter Andrews; Mitchell Bekritsky; Kith Pradhan; Elena Ghiban; Melissa Kramer; Jennifer Parla; Ryan Demeter; Lucinda L Fulton; Robert S Fulton; Vincent J Magrini; Kenny Ye; Jennifer C Darnell; Robert B Darnell; Elaine R Mardis; Richard K Wilson; Michael C Schatz; W Richard McCombie; Michael Wigler
Journal:  Neuron       Date:  2012-04-26       Impact factor: 17.173

3.  The functional response of upstream DNA to dynamic supercoiling in vivo.

Authors:  Fedor Kouzine; Suzanne Sanford; Zichrini Elisha-Feil; David Levens
Journal:  Nat Struct Mol Biol       Date:  2008-01-13       Impact factor: 15.369

4.  Topoisomerase II is required for the production of long Pol II gene transcripts in yeast.

Authors:  Ricky S Joshi; Benjamin Piña; Joaquim Roca
Journal:  Nucleic Acids Res       Date:  2012-06-19       Impact factor: 16.971

5.  Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Authors:  Benjamin M Neale; Yan Kou; Li Liu; Avi Ma'ayan; Kaitlin E Samocha; Aniko Sabo; Chiao-Feng Lin; Christine Stevens; Li-San Wang; Vladimir Makarov; Paz Polak; Seungtai Yoon; Jared Maguire; Emily L Crawford; Nicholas G Campbell; Evan T Geller; Otto Valladares; Chad Schafer; Han Liu; Tuo Zhao; Guiqing Cai; Jayon Lihm; Ruth Dannenfelser; Omar Jabado; Zuleyma Peralta; Uma Nagaswamy; Donna Muzny; Jeffrey G Reid; Irene Newsham; Yuanqing Wu; Lora Lewis; Yi Han; Benjamin F Voight; Elaine Lim; Elizabeth Rossin; Andrew Kirby; Jason Flannick; Menachem Fromer; Khalid Shakir; Tim Fennell; Kiran Garimella; Eric Banks; Ryan Poplin; Stacey Gabriel; Mark DePristo; Jack R Wimbish; Braden E Boone; Shawn E Levy; Catalina Betancur; Shamil Sunyaev; Eric Boerwinkle; Joseph D Buxbaum; Edwin H Cook; Bernie Devlin; Richard A Gibbs; Kathryn Roeder; Gerard D Schellenberg; James S Sutcliffe; Mark J Daly
Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

6.  Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons.

Authors:  Hsien-Sung Huang; John A Allen; Angela M Mabb; Ian F King; Jayalakshmi Miriyala; Bonnie Taylor-Blake; Noah Sciaky; J Walter Dutton; Hyeong-Min Lee; Xin Chen; Jian Jin; Arlene S Bridges; Mark J Zylka; Bryan L Roth; Benjamin D Philpot
Journal:  Nature       Date:  2011-12-21       Impact factor: 49.962

7.  Genomic transcriptional response to loss of chromosomal supercoiling in Escherichia coli.

Authors:  Brian J Peter; Javier Arsuaga; Adam M Breier; Arkady B Khodursky; Patrick O Brown; Nicholas R Cozzarelli
Journal:  Genome Biol       Date:  2004-11-01       Impact factor: 13.583

8.  Topoisomerases facilitate transcription of long genes linked to autism.

Authors:  Ian F King; Chandri N Yandava; Angela M Mabb; Jack S Hsiao; Hsien-Sung Huang; Brandon L Pearson; J Mauro Calabrese; Joshua Starmer; Joel S Parker; Terry Magnuson; Stormy J Chamberlain; Benjamin D Philpot; Mark J Zylka
Journal:  Nature       Date:  2013-08-28       Impact factor: 49.962
  8 in total
  1 in total

Review 1.  Pharmacological therapies for Angelman syndrome.

Authors:  Wen-Hann Tan; Lynne M Bird
Journal:  Wien Med Wochenschr       Date:  2016-01-12
  1 in total

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