Literature DB >> 25100484

Bias towards large genes in autism.

Shahar Shohat1, Sagiv Shifman1.   

Abstract

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Year:  2014        PMID: 25100484     DOI: 10.1038/nature13583

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


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  9 in total

1.  Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Authors:  Stephan J Sanders; A Gulhan Ercan-Sencicek; Vanessa Hus; Rui Luo; Michael T Murtha; Daniel Moreno-De-Luca; Su H Chu; Michael P Moreau; Abha R Gupta; Susanne A Thomson; Christopher E Mason; Kaya Bilguvar; Patricia B S Celestino-Soper; Murim Choi; Emily L Crawford; Lea Davis; Nicole R Davis Wright; Rahul M Dhodapkar; Michael DiCola; Nicholas M DiLullo; Thomas V Fernandez; Vikram Fielding-Singh; Daniel O Fishman; Stephanie Frahm; Rouben Garagaloyan; Gerald S Goh; Sindhuja Kammela; Lambertus Klei; Jennifer K Lowe; Sabata C Lund; Anna D McGrew; Kyle A Meyer; William J Moffat; John D Murdoch; Brian J O'Roak; Gordon T Ober; Rebecca S Pottenger; Melanie J Raubeson; Youeun Song; Qi Wang; Brian L Yaspan; Timothy W Yu; Ilana R Yurkiewicz; Arthur L Beaudet; Rita M Cantor; Martin Curland; Dorothy E Grice; Murat Günel; Richard P Lifton; Shrikant M Mane; Donna M Martin; Chad A Shaw; Michael Sheldon; Jay A Tischfield; Christopher A Walsh; Eric M Morrow; David H Ledbetter; Eric Fombonne; Catherine Lord; Christa Lese Martin; Andrew I Brooks; James S Sutcliffe; Edwin H Cook; Daniel Geschwind; Kathryn Roeder; Bernie Devlin; Matthew W State
Journal:  Neuron       Date:  2011-06-09       Impact factor: 17.173

2.  Rare de novo and transmitted copy-number variation in autistic spectrum disorders.

Authors:  Dan Levy; Michael Ronemus; Boris Yamrom; Yoon-ha Lee; Anthony Leotta; Jude Kendall; Steven Marks; B Lakshmi; Deepa Pai; Kenny Ye; Andreas Buja; Abba Krieger; Seungtai Yoon; Jennifer Troge; Linda Rodgers; Ivan Iossifov; Michael Wigler
Journal:  Neuron       Date:  2011-06-09       Impact factor: 17.173

3.  Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.

Authors:  Eyal Ben-David; Einat Granot-Hershkovitz; Galya Monderer-Rothkoff; Elad Lerer; Shlomit Levi; Maya Yaari; Richard P Ebstein; Nurit Yirmiya; Sagiv Shifman
Journal:  Hum Mol Genet       Date:  2011-06-16       Impact factor: 6.150

4.  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

5.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Authors:  Stephan J Sanders; Michael T Murtha; Abha R Gupta; John D Murdoch; Melanie J Raubeson; A Jeremy Willsey; A Gulhan Ercan-Sencicek; Nicholas M DiLullo; Neelroop N Parikshak; Jason L Stein; Michael F Walker; Gordon T Ober; Nicole A Teran; Youeun Song; Paul El-Fishawy; Ryan C Murtha; Murim Choi; John D Overton; Robert D Bjornson; Nicholas J Carriero; Kyle A Meyer; Kaya Bilguvar; Shrikant M Mane; Nenad Sestan; Richard P Lifton; Murat Günel; Kathryn Roeder; Daniel H Geschwind; Bernie Devlin; Matthew W State
Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

6.  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

7.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Authors:  Brian J O'Roak; Laura Vives; Santhosh Girirajan; Emre Karakoc; Niklas Krumm; Bradley P Coe; Roie Levy; Arthur Ko; Choli Lee; Joshua D Smith; Emily H Turner; Ian B Stanaway; Benjamin Vernot; Maika Malig; Carl Baker; Beau Reilly; Joshua M Akey; Elhanan Borenstein; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Jay Shendure; Evan E Eichler
Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

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

9.  SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs).

Authors:  Dan E Arking; Daniel B Campbell; Heather C Mefford; Eric M Morrow; Lauren A Weiss; Brett S Abrahams; Idan Menashe; Tim Wadkins; Sharmila Banerjee-Basu; Alan Packer
Journal:  Mol Autism       Date:  2013-10-03       Impact factor: 7.509

  9 in total
  5 in total

Review 1.  Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders.

Authors:  Neelroop N Parikshak; Michael J Gandal; Daniel H Geschwind
Journal:  Nat Rev Genet       Date:  2015-07-07       Impact factor: 53.242

2.  Epigenomic Convergence of Neural-Immune Risk Factors in Neurodevelopmental Disorder Cortex.

Authors:  A Vogel Ciernia; B I Laufer; H Hwang; K W Dunaway; C E Mordaunt; R L Coulson; D H Yasui; J M LaSalle
Journal:  Cereb Cortex       Date:  2020-03-21       Impact factor: 5.357

3.  Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome.

Authors:  Sang S Seo; Susana R Louros; Natasha Anstey; Miguel A Gonzalez-Lozano; Callista B Harper; Nicholas C Verity; Owen Dando; Sophie R Thomson; Jennifer C Darnell; Peter C Kind; Ka Wan Li; Emily K Osterweil
Journal:  Nat Commun       Date:  2022-06-10       Impact factor: 17.694

4.  Fmrp targets or not: long, highly brain-expressed genes tend to be implicated in autism and brain disorders.

Authors:  Rebecca L Ouwenga; Joseph Dougherty
Journal:  Mol Autism       Date:  2015-03-11       Impact factor: 7.509

5.  Length-dependent gene misexpression is associated with Alzheimer's disease progression.

Authors:  Shahar Barbash; Thomas P Sakmar
Journal:  Sci Rep       Date:  2017-03-15       Impact factor: 4.379

  5 in total

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