Literature DB >> 32027831

High-Risk, High-Reward Genetics in ASD.

Christina A Castellani1, Dan E Arking2.   

Abstract

In a recent issue of Cell, Satterstrom et al. leverage de novo high-impact variants to identify 102 genes associated with autism spectrum disorder (ASD). Most of these genes have roles in regulation of gene expression or neuronal communication, implicating both developmental and functional changes in ASD.
Copyright © 2020 Elsevier Inc. All rights reserved.

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Year:  2020        PMID： 32027831      PMCID： PMC8985088          DOI： 10.1016/j.neuron.2020.01.007

Source DB:  PubMed          Journal:  Neuron        ISSN： 0896-6273            Impact factor:   17.173


  9 in total

1.  Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.

Authors:  F Kyle Satterstrom; Jack A Kosmicki; Jiebiao Wang; Michael S Breen; Silvia De Rubeis; Joon-Yong An; Minshi Peng; Ryan Collins; Jakob Grove; Lambertus Klei; Christine Stevens; Jennifer Reichert; Maureen S Mulhern; Mykyta Artomov; Sherif Gerges; Brooke Sheppard; Xinyi Xu; Aparna Bhaduri; Utku Norman; Harrison Brand; Grace Schwartz; Rachel Nguyen; Elizabeth E Guerrero; Caroline Dias; Catalina Betancur; Edwin H Cook; Louise Gallagher; Michael Gill; James S Sutcliffe; Audrey Thurm; Michael E Zwick; Anders D Børglum; Matthew W State; A Ercument Cicek; Michael E Talkowski; David J Cutler; Bernie Devlin; Stephan J Sanders; Kathryn Roeder; Mark J Daly; Joseph D Buxbaum
Journal:  Cell       Date:  2020-01-23       Impact factor: 41.582

2.  Fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa, or substance abuse vs their unaffected siblings.

Authors:  Robert A Power; Simon Kyaga; Rudolf Uher; James H MacCabe; Niklas Långström; Mikael Landen; Peter McGuffin; Cathryn M Lewis; Paul Lichtenstein; Anna C Svensson
Journal:  JAMA Psychiatry       Date:  2013-01       Impact factor: 21.596

3.  Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

Authors:  Stephan J Sanders; Xin He; A Jeremy Willsey; A Gulhan Ercan-Sencicek; Kaitlin E Samocha; A Ercument Cicek; Michael T Murtha; Vanessa H Bal; Somer L Bishop; Shan Dong; Arthur P Goldberg; Cai Jinlu; John F Keaney; Lambertus Klei; Jeffrey D Mandell; Daniel Moreno-De-Luca; Christopher S Poultney; Elise B Robinson; Louw Smith; Tor Solli-Nowlan; Mack Y Su; Nicole A Teran; Michael F Walker; Donna M Werling; Arthur L Beaudet; Rita M Cantor; Eric Fombonne; Daniel H Geschwind; Dorothy E Grice; Catherine Lord; Jennifer K Lowe; Shrikant M Mane; Donna M Martin; Eric M Morrow; Michael E Talkowski; James S Sutcliffe; Christopher A Walsh; Timothy W Yu; David H Ledbetter; Christa Lese Martin; Edwin H Cook; Joseph D Buxbaum; Mark J Daly; Bernie Devlin; Kathryn Roeder; Matthew W State
Journal:  Neuron       Date:  2015-09-23       Impact factor: 17.173

Review 4.  Model of autism: increased ratio of excitation/inhibition in key neural systems.

Authors:  J L R Rubenstein; M M Merzenich
Journal:  Genes Brain Behav       Date:  2003-10       Impact factor: 3.449

5.  Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.

Authors:  Elise B Robinson; Kaitlin E Samocha; Jack A Kosmicki; Lauren McGrath; Benjamin M Neale; Roy H Perlis; Mark J Daly
Journal:  Proc Natl Acad Sci U S A       Date:  2014-10-06       Impact factor: 11.205

6.  Most genetic risk for autism resides with common variation.

Authors:  Trent Gaugler; Lambertus Klei; Stephan J Sanders; Corneliu A Bodea; Arthur P Goldberg; Ann B Lee; Milind Mahajan; Dina Manaa; Yudi Pawitan; Jennifer Reichert; Stephan Ripke; Sven Sandin; Pamela Sklar; Oscar Svantesson; Abraham Reichenberg; Christina M Hultman; Bernie Devlin; Kathryn Roeder; Joseph D Buxbaum
Journal:  Nat Genet       Date:  2014-07-20       Impact factor: 38.330

7.  Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Authors:  Jack A Kosmicki; Kaitlin E Samocha; Daniel P Howrigan; Stephan J Sanders; Kamil Slowikowski; Monkol Lek; Konrad J Karczewski; David J Cutler; Bernie Devlin; Kathryn Roeder; Joseph D Buxbaum; Benjamin M Neale; Daniel G MacArthur; Dennis P Wall; Elise B Robinson; Mark J Daly
Journal:  Nat Genet       Date:  2017-02-13       Impact factor: 38.330

8.  Identification of common genetic risk variants for autism spectrum disorder.

Authors:  Jakob Grove; Stephan Ripke; Thomas D Als; Manuel Mattheisen; Raymond K Walters; Hyejung Won; Jonatan Pallesen; Esben Agerbo; Ole A Andreassen; Richard Anney; Swapnil Awashti; Rich Belliveau; Francesco Bettella; Joseph D Buxbaum; Jonas Bybjerg-Grauholm; Marie Bækvad-Hansen; Felecia Cerrato; Kimberly Chambert; Jane H Christensen; Claire Churchhouse; Karin Dellenvall; Ditte Demontis; Silvia De Rubeis; Bernie Devlin; Srdjan Djurovic; Ashley L Dumont; Jacqueline I Goldstein; Christine S Hansen; Mads Engel Hauberg; Mads V Hollegaard; Sigrun Hope; Daniel P Howrigan; Hailiang Huang; Christina M Hultman; Lambertus Klei; Julian Maller; Joanna Martin; Alicia R Martin; Jennifer L Moran; Mette Nyegaard; Terje Nærland; Duncan S Palmer; Aarno Palotie; Carsten Bøcker Pedersen; Marianne Giørtz Pedersen; Timothy dPoterba; Jesper Buchhave Poulsen; Beate St Pourcain; Per Qvist; Karola Rehnström; Abraham Reichenberg; Jennifer Reichert; Elise B Robinson; Kathryn Roeder; Panos Roussos; Evald Saemundsen; Sven Sandin; F Kyle Satterstrom; George Davey Smith; Hreinn Stefansson; Stacy Steinberg; Christine R Stevens; Patrick F Sullivan; Patrick Turley; G Bragi Walters; Xinyi Xu; Kari Stefansson; Daniel H Geschwind; Merete Nordentoft; David M Hougaard; Thomas Werge; Ole Mors; Preben Bo Mortensen; Benjamin M Neale; Mark J Daly; Anders D Børglum
Journal:  Nat Genet       Date:  2019-02-25       Impact factor: 38.330

9.  Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism.

Authors:  Simone Gupta; Shannon E Ellis; Foram N Ashar; Anna Moes; Joel S Bader; Jianan Zhan; Andrew B West; Dan E Arking
Journal:  Nat Commun       Date:  2014-12-10       Impact factor: 14.919
  9 in total
  1 in total

1.  Not All Autism Genes Are Created Equal: A Response to Myers et al.

Authors:  Joseph D Buxbaum; David J Cutler; Mark J Daly; Bernie Devlin; Kathryn Roeder; Stephan J Sanders
Journal:  Am J Hum Genet       Date:  2020-11-05       Impact factor: 11.025
  1 in total

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