Literature DB >> 28260791

Autism genetics: opportunities and challenges for clinical translation.

Jacob A S Vorstman1, Jeremy R Parr2, Daniel Moreno-De-Luca3, Richard J L Anney4, John I Nurnberger5,6, Joachim F Hallmayer7.   

Abstract

Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characteristics of autism genetics. Although this advancing insight should improve clinical care, at present there is a substantial discrepancy between research knowledge and its clinical application. In this Review, we discuss the current challenges and opportunities for the translation of autism genetics knowledge into clinical practice.

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Year:  2017        PMID： 28260791     DOI： 10.1038/nrg.2017.4

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


  169 in total

Review 1.  Immunological and autoimmune considerations of Autism Spectrum Disorders.

Authors:  Benjamin Gesundheit; Joshua P Rosenzweig; David Naor; Bernard Lerer; Ditza A Zachor; Vaclav Procházka; Michal Melamed; Donald A Kristt; Abraham Steinberg; Cory Shulman; Paul Hwang; Gideon Koren; Asnat Walfisch; Jacob R Passweg; John A Snowden; Ryad Tamouza; Marion Leboyer; Dominique Farge-Bancel; Paul Ashwood
Journal:  J Autoimmun       Date:  2013-07-15       Impact factor: 7.094

2.  Treatment for Sleep Problems in Children with Autism and Caregiver Spillover Effects.

Authors:  J Mick Tilford; Nalin Payakachat; Karen A Kuhlthau; Jeffrey M Pyne; Erica Kovacs; Jayne Bellando; D Keith Williams; Werner B F Brouwer; Richard E Frye
Journal:  J Autism Dev Disord       Date:  2015-11

3.  The social behavioral phenotype in boys and girls with an extra X chromosome (Klinefelter syndrome and Trisomy X): a comparison with autism spectrum disorder.

Authors:  Sophie van Rijn; Lex Stockmann; Martine Borghgraef; Hilgo Bruining; Conny van Ravenswaaij-Arts; Lutgarde Govaerts; Kerstin Hansson; Hanna Swaab
Journal:  J Autism Dev Disord       Date:  2014-02

4.  Lack of evidence for increased genetic loading for autism among families of affected females: a replication from family history data in two large samples.

Authors:  Robin P Goin-Kochel; Anna Abbacchi; John N Constantino
Journal:  Autism       Date:  2007-05

Review 5.  Chromosome 2q37 deletion: clinical and molecular aspects.

Authors:  Rena E Falk; Kari A Casas
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-11-15       Impact factor: 3.908

Review 6.  New ethical issues for genetic counseling in common mental disorders.

Authors:  Elliot S Gershon; Ney Alliey-Rodriguez
Journal:  Am J Psychiatry       Date:  2013-09       Impact factor: 18.112

7.  Autism genetic testing information needs among parents of affected children: A qualitative study.

Authors:  Ming Li; Ann Amuta; Lei Xu; Shweta U Dhar; Divya Talwar; Eunju Jung; Lei-Shih Chen
Journal:  Patient Educ Couns       Date:  2016-01-15

8.  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

Review 9.  Next-generation sequencing to guide cancer therapy.

Authors:  Jeffrey Gagan; Eliezer M Van Allen
Journal:  Genome Med       Date:  2015-07-29       Impact factor: 11.117

10.  Behavioral signatures related to genetic disorders in autism.

Authors:  Jacob As Vorstman; Patrick F Bolton; Hilgo Bruining; Marinus Jc Eijkemans; Martien Jh Kas; Sarah R Curran
Journal:  Mol Autism       Date:  2014-02-11       Impact factor: 7.509
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  121 in total

Review 1.  Advances in nonhuman primate models of autism: Integrating neuroscience and behavior.

Authors:  M D Bauman; C M Schumann
Journal:  Exp Neurol       Date:  2017-08-01       Impact factor: 5.330

Review 2.  Brain Connectivity and Neuroimaging of Social Networks in Autism.

Authors:  Ralph-Axel Müller; Inna Fishman
Journal:  Trends Cogn Sci       Date:  2018-10-31       Impact factor: 20.229

Review 3.  Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder.

Authors:  Nenad Sestan; Matthew W State
Journal:  Neuron       Date:  2018-10-24       Impact factor: 17.173

Review 4.  Emerging connections between cerebellar development, behaviour and complex brain disorders.

Authors:  Aaron Sathyanesan; Joy Zhou; Joseph Scafidi; Detlef H Heck; Roy V Sillitoe; Vittorio Gallo
Journal:  Nat Rev Neurosci       Date:  2019-05       Impact factor: 34.870

Review 5.  Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome.

Authors:  Ania M Fiksinski; Maude Schneider; Clodagh M Murphy; Marco Armando; Stefano Vicari; Jaume M Canyelles; Doron Gothelf; Stephan Eliez; Elemi J Breetvelt; Celso Arango; Jacob A S Vorstman
Journal:  Am J Med Genet A       Date:  2018-09-08       Impact factor: 2.802

Review 6.  The neural stem cell/carnitine malnutrition hypothesis: new prospects for effective reduction of autism risk?

Authors:  Vytas A Bankaitis; Zhigang Xie
Journal:  J Biol Chem       Date:  2019-11-07       Impact factor: 5.157

Review 7.  The Role of Lipidomics in Autism Spectrum Disorder.

Authors:  Afaf El-Ansary; Salvatore Chirumbolo; Ramesa Shafi Bhat; Maryam Dadar; Eiman M Ibrahim; Geir Bjørklund
Journal:  Mol Diagn Ther       Date:  2020-02       Impact factor: 4.074

Review 8.  Towards a Multivariate Biomarker-Based Diagnosis of Autism Spectrum Disorder: Review and Discussion of Recent Advancements.

Authors:  Troy Vargason; Genevieve Grivas; Kathryn L Hollowood-Jones; Juergen Hahn
Journal:  Semin Pediatr Neurol       Date:  2020-03-05       Impact factor: 1.636

Review 9.  Polygenic Risk Scores in Clinical Psychology: Bridging Genomic Risk to Individual Differences.

Authors:  Ryan Bogdan; David A A Baranger; Arpana Agrawal
Journal:  Annu Rev Clin Psychol       Date:  2018-05-07       Impact factor: 18.561

10.  Leveraging the Power of Genetics to Bring Precision Medicine to Psychiatry: Too Little of a Good Thing?

Authors:  Daniel Moreno-De-Luca; Michael E Ross; David A Ross
Journal:  Biol Psychiatry       Date:  2018-04-15       Impact factor: 13.382
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