Literature DB >> 22585064

Human genetics: Fruits of exome sequencing for autism.

Mary Muers.   

Abstract

Entities:  

Year:  2012        PMID: 22585064     DOI: 10.1038/nrg3248

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


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  6 in total

1.  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

2.  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

Review 3.  Rare and common variants: twenty arguments.

Authors:  Greg Gibson
Journal:  Nat Rev Genet       Date:  2012-01-18       Impact factor: 53.242

4.  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

5.  Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

Authors:  Maria H Chahrour; Timothy W Yu; Elaine T Lim; Bulent Ataman; Michael E Coulter; R Sean Hill; Christine R Stevens; Christian R Schubert; Michael E Greenberg; Stacey B Gabriel; Christopher A Walsh
Journal:  PLoS Genet       Date:  2012-04-12       Impact factor: 5.917

6.  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

  6 in total
  6 in total

1.  Factors Affecting Family Compliance with Genetic Testing of Children Diagnosed with Autism Spectrum Disorder.

Authors:  Yonah Hendel; Gal Meiri; Hagit Flusser; Analya Michaelovski; Ilan Dinstein; Idan Menashe
Journal:  J Autism Dev Disord       Date:  2021-04

2.  Common genetic variants on 1p13.2 associate with risk of autism.

Authors:  K Xia; H Guo; Z Hu; G Xun; L Zuo; Y Peng; K Wang; Y He; Z Xiong; L Sun; Q Pan; Z Long; X Zou; X Li; W Li; X Xu; L Lu; Y Liu; Y Hu; D Tian; L Long; J Ou; Y Liu; X Li; L Zhang; Y Pan; J Chen; H Peng; Q Liu; X Luo; W Su; L Wu; D Liang; H Dai; X Yan; Y Feng; B Tang; J Li; Z Miedzybrodzka; J Xia; Z Zhang; X Luo; X Zhang; D St Clair; J Zhao; F Zhang
Journal:  Mol Psychiatry       Date:  2013-11-05       Impact factor: 15.992

3.  Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects.

Authors:  Shabeesh Balan; Yoshimi Iwayama; Motoko Maekawa; Tomoko Toyota; Tetsuo Ohnishi; Manabu Toyoshima; Chie Shimamoto; Kayoko Esaki; Kazuo Yamada; Yasuhide Iwata; Katsuaki Suzuki; Masayuki Ide; Motonori Ota; Satoshi Fukuchi; Masatsugu Tsujii; Norio Mori; Yoichi Shinkai; Takeo Yoshikawa
Journal:  Mol Autism       Date:  2014-10-06       Impact factor: 7.509

Review 4.  Hunting human disease genes: lessons from the past, challenges for the future.

Authors:  Liam R Brunham; Michael R Hayden
Journal:  Hum Genet       Date:  2013-03-17       Impact factor: 4.132

5.  The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level.

Authors:  Ruben C Arslan; Lars Penke; Wendy Johnson; William G Iacono; Matt McGue
Journal:  PLoS One       Date:  2014-02-25       Impact factor: 3.240

6.  Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder.

Authors:  Esther R Berko; Masako Suzuki; Faygel Beren; Christophe Lemetre; Christine M Alaimo; R Brent Calder; Karen Ballaban-Gil; Batya Gounder; Kaylee Kampf; Jill Kirschen; Shahina B Maqbool; Zeineen Momin; David M Reynolds; Natalie Russo; Lisa Shulman; Edyta Stasiek; Jessica Tozour; Maria Valicenti-McDermott; Shenglong Wang; Brett S Abrahams; Joseph Hargitai; Dov Inbar; Zhengdong Zhang; Joseph D Buxbaum; Sophie Molholm; John J Foxe; Robert W Marion; Adam Auton; John M Greally
Journal:  PLoS Genet       Date:  2014-05-29       Impact factor: 5.917

  6 in total

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