Literature DB >> 20635338

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.

Xin-Li Huang1, Ying S Zou, Tom A Maher, Stephanie Newton, Jeff M Milunsky.   

Abstract

Entities:  

Mesh：

Year:  2010        PMID： 20635338     DOI： 10.1002/ajmg.a.33497

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  22 in total

Review 1.  The role of AUTS2 in neurodevelopment and human evolution.

Authors:  Nir Oksenberg; Nadav Ahituv
Journal:  Trends Genet       Date:  2013-09-02       Impact factor: 11.639

2.  Late breaking chromosomes.

Authors:  M Poot
Journal:  Mol Syndromol       Date:  2013-09

3.  Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

Authors:  Jacob J Michaelson; Yujian Shi; Madhusudan Gujral; Hancheng Zheng; Dheeraj Malhotra; Xin Jin; Minghan Jian; Guangming Liu; Douglas Greer; Abhishek Bhandari; Wenting Wu; Roser Corominas; Aine Peoples; Amnon Koren; Athurva Gore; Shuli Kang; Guan Ning Lin; Jasper Estabillo; Therese Gadomski; Balvindar Singh; Kun Zhang; Natacha Akshoomoff; Christina Corsello; Steven McCarroll; Lilia M Iakoucheva; Yingrui Li; Jun Wang; Jonathan Sebat
Journal:  Cell       Date:  2012-12-21       Impact factor: 41.582

4.  Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

Authors:  Gea Beunders; Sonja A de Munnik; Nathalie Van der Aa; Berten Ceulemans; Els Voorhoeve; Alexander J Groffen; Willy M Nillesen; Elizabeth J Meijers-Heijboer; R Frank Kooy; Helger G Yntema; Erik A Sistermans
Journal:  Eur J Hum Genet       Date:  2014-09-10       Impact factor: 4.246

5.  Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.

Authors:  Sandesh C S Nagamani; Ayelet Erez; Bruria Ben-Zeev; Moshe Frydman; Susan Winter; Robert Zeller; Dima El-Khechen; Luis Escobar; Pawel Stankiewicz; Ankita Patel; Sau Wai Cheung
Journal:  Eur J Hum Genet       Date:  2012-08-08       Impact factor: 4.246

Review 6.  Transcriptional dysregulation of neocortical circuit assembly in ASD.

Authors:  Kenneth Y Kwan
Journal:  Int Rev Neurobiol       Date:  2013       Impact factor: 3.230

7.  An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk.

Authors:  Ye Cheng; Jeffrey Francis Quinn; Lauren Anne Weiss
Journal:  Hum Mol Genet       Date:  2013-04-10       Impact factor: 6.150

8.  Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene.

Authors:  Izabela Chojnicka; Krzysztof Gajos; Katarzyna Strawa; Grażyna Broda; Sylwia Fudalej; Marcin Fudalej; Piotr Stawiński; Aleksandra Pawlak; Paweł Krajewski; Marcin Wojnar; Rafał Płoski
Journal:  PLoS One       Date:  2013-02-20       Impact factor: 3.240

9.  Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Authors:  Gea Beunders; Els Voorhoeve; Christelle Golzio; Luba M Pardo; Jill A Rosenfeld; Michael E Talkowski; Ingrid Simonic; Anath C Lionel; Sarah Vergult; Robert E Pyatt; Jiddeke van de Kamp; Aggie Nieuwint; Marjan M Weiss; Patrizia Rizzu; Lucilla E N I Verwer; Rosalina M L van Spaendonk; Yiping Shen; Bai-lin Wu; Tingting Yu; Yongguo Yu; Colby Chiang; James F Gusella; Amelia M Lindgren; Cynthia C Morton; Ellen van Binsbergen; Saskia Bulk; Els van Rossem; Olivier Vanakker; Ruth Armstrong; Soo-Mi Park; Lynn Greenhalgh; Una Maye; Nicholas J Neill; Kristin M Abbott; Susan Sell; Roger Ladda; Darren M Farber; Patricia I Bader; Tom Cushing; Joanne M Drautz; Laura Konczal; Patricia Nash; Emily de Los Reyes; Melissa T Carter; Elizabeth Hopkins; Christian R Marshall; Lucy R Osborne; Karen W Gripp; Devon Lamb Thrush; Sayaka Hashimoto; Julie M Gastier-Foster; Caroline Astbury; Bauke Ylstra; Hanne Meijers-Heijboer; Danielle Posthuma; Björn Menten; Geert Mortier; Stephen W Scherer; Evan E Eichler; Santhosh Girirajan; Nicholas Katsanis; Alexander J Groffen; Erik A Sistermans
Journal:  Am J Hum Genet       Date:  2013-01-17       Impact factor: 11.025

Review 10.  Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.

Authors:  Christophe Gauld; Alice Poisson; Julie Reversat; Elodie Peyroux; Françoise Houdayer-Robert; Massimiliano Rossi; Gaetan Lesca; Damien Sanlaville; Caroline Demily
Journal:  BMC Psychiatry       Date:  2021-07-17       Impact factor: 3.630
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