Literature DB >> 26935198

Genetic Studies in Autism.

Shruthi Sudarshan1, Neerja Gupta2, Madhulika Kabra1.   

Abstract

Autism is a complex neurodevelopmental disorder, which has captured the attention of not only pediatricians but also the parents. From the symptoms until the final diagnosis, parents undergo a diagnostic odyssey that involves a battery of tests without much yield. This has led to an increase in the referrals to the clinical geneticists to rule out the possible genetic etiology that can have implications for the parents for future pregnancy. This chapter focuses on the various genetic causes and their appropriate application in the evaluation of a child with Autism Spectrum Disorders (ASDs).

Entities:  

Keywords:  Autism; Autism spectrum disorders; Chromosomal microarray; Copy number variations; Genetics; Next generation sequencing

Mesh：

Year:  2016        PMID： 26935198     DOI： 10.1007/s12098-015-1989-7

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  43 in total

1.  Genetic heritability and shared environmental factors among twin pairs with autism.

Authors:  Joachim Hallmayer; Sue Cleveland; Andrea Torres; Jennifer Phillips; Brianne Cohen; Tiffany Torigoe; Janet Miller; Angie Fedele; Jack Collins; Karen Smith; Linda Lotspeich; Lisa A Croen; Sally Ozonoff; Clara Lajonchere; Judith K Grether; Neil Risch
Journal:  Arch Gen Psychiatry       Date:  2011-07-04

2.  Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors.

Authors:  James S Sutcliffe; Ryan J Delahanty; Harish C Prasad; Jacob L McCauley; Qiao Han; Lan Jiang; Chun Li; Susan E Folstein; Randy D Blakely
Journal:  Am J Hum Genet       Date:  2005-07-01       Impact factor: 11.025

Review 3.  Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.

Authors:  Catalina Betancur
Journal:  Brain Res       Date:  2010-12-01       Impact factor: 3.252

4.  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

5.  Seizure disorders in autism.

Authors:  F R Volkmar; D S Nelson
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  1990-01       Impact factor: 8.829

6.  Autism and phenylketonuria.

Authors:  Sabrina Baieli; Lorenzo Pavone; Concetta Meli; Agata Fiumara; Mary Coleman
Journal:  J Autism Dev Disord       Date:  2003-04

7.  Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Authors:  Marwan Shinawi; Pengfei Liu; Sung-Hae L Kang; Joseph Shen; John W Belmont; Daryl A Scott; Frank J Probst; William J Craigen; Brett H Graham; Amber Pursley; Gary Clark; Jennifer Lee; Monica Proud; Amber Stocco; Diana L Rodriguez; Beth A Kozel; Steven Sparagana; Elizabeth R Roeder; Susan G McGrew; Thaddeus W Kurczynski; Leslie J Allison; Stephen Amato; Sarah Savage; Ankita Patel; Pawel Stankiewicz; Arthur L Beaudet; Sau Wai Cheung; James R Lupski
Journal:  J Med Genet       Date:  2009-11-12       Impact factor: 6.318

8.  Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Authors:  Claire S Leblond; Jutta Heinrich; Richard Delorme; Christian Proepper; Catalina Betancur; Guillaume Huguet; Marina Konyukh; Pauline Chaste; Elodie Ey; Maria Rastam; Henrik Anckarsäter; Gudrun Nygren; I Carina Gillberg; Jonas Melke; Roberto Toro; Beatrice Regnault; Fabien Fauchereau; Oriane Mercati; Nathalie Lemière; David Skuse; Martin Poot; Richard Holt; Anthony P Monaco; Irma Järvelä; Katri Kantojärvi; Raija Vanhala; Sarah Curran; David A Collier; Patrick Bolton; Andreas Chiocchetti; Sabine M Klauck; Fritz Poustka; Christine M Freitag; Regina Waltes; Marnie Kopp; Eftichia Duketis; Elena Bacchelli; Fiorella Minopoli; Liliana Ruta; Agatino Battaglia; Luigi Mazzone; Elena Maestrini; Ana F Sequeira; Barbara Oliveira; Astrid Vicente; Guiomar Oliveira; Dalila Pinto; Stephen W Scherer; Diana Zelenika; Marc Delepine; Mark Lathrop; Dominique Bonneau; Vincent Guinchat; Françoise Devillard; Brigitte Assouline; Marie-Christine Mouren; Marion Leboyer; Christopher Gillberg; Tobias M Boeckers; Thomas Bourgeron
Journal:  PLoS Genet       Date:  2012-02-09       Impact factor: 5.917

9.  Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.

Authors:  Holly N Cukier; Nicole D Dueker; Susan H Slifer; Joycelyn M Lee; Patrice L Whitehead; Eminisha Lalanne; Natalia Leyva; Ioanna Konidari; Ryan C Gentry; William F Hulme; Derek Van Booven; Vera Mayo; Natalia K Hofmann; Michael A Schmidt; Eden R Martin; Jonathan L Haines; Michael L Cuccaro; John R Gilbert; Margaret A Pericak-Vance
Journal:  Mol Autism       Date:  2014-01-10       Impact factor: 7.509

10.  Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

Authors:  Brian J O'Roak; Pelagia Deriziotis; Choli Lee; Laura Vives; Jerrod J Schwartz; Santhosh Girirajan; Emre Karakoc; Alexandra P Mackenzie; Sarah B Ng; Carl Baker; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Simon E Fisher; Jay Shendure; Evan E Eichler
Journal:  Nat Genet       Date:  2011-05-15       Impact factor: 38.330
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  1 in total

1.  Editorial: New Horizons in Genetic Diagnosis in Pediatric Practice: The Excitement and Challenges!

Authors:  Ratna D Puri; Madhulika Kabra
Journal:  Indian J Pediatr       Date:  2016-08-11       Impact factor: 1.967
  1 in total

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