Literature DB >> 23650183

De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literature review.

Alexandra Jolley1, Mark Corbett, Lesley McGregor, Wendy Waters, Susan Brown, Jillian Nicholl, Sui Yu.   

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Year:  2013        PMID： 23650183     DOI： 10.1002/ajmg.a.35922

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


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  17 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

Review 2.  Histone H2A Monoubiquitination in Neurodevelopmental Disorders.

Authors:  Anshika Srivastava; Brian McGrath; Stephanie L Bielas
Journal:  Trends Genet       Date:  2017-06-29       Impact factor: 11.639

3.  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

Review 4.  AUTS2 Gene: Keys to Understanding the Pathogenesis of Neurodevelopmental Disorders.

Authors:  Kei Hori; Kazumi Shimaoka; Mikio Hoshino
Journal:  Cells       Date:  2021-12-21       Impact factor: 6.600

5.  Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.

Authors:  Michael Lugo; Zoë C Wong; Charles J Billington; Phoebe C R Parrish; Glennis Muldoon; Delong Liu; Barbara R Pober; Beth A Kozel
Journal:  Am J Med Genet A       Date:  2020-02-20       Impact factor: 2.578

Review 6.  Untangle the Multi-Facet Functions of Auts2 as an Entry Point to Understand Neurodevelopmental Disorders.

Authors:  Wenbin Pang; Xinan Yi; Ling Li; Liyan Liu; Wei Xiang; Le Xiao
Journal:  Front Psychiatry       Date:  2021-04-23       Impact factor: 4.157

7.  Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.

Authors:  N Oksenberg; G D E Haliburton; W L Eckalbar; I Oren; S Nishizaki; K Murphy; K S Pollard; R Y Birnbaum; N Ahituv
Journal:  Transl Psychiatry       Date:  2014-09-02       Impact factor: 6.222

8.  Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory.

Authors:  Kei Hori; Taku Nagai; Wei Shan; Asami Sakamoto; Manabu Abe; Maya Yamazaki; Kenji Sakimura; Kiyofumi Yamada; Mikio Hoshino
Journal:  PLoS One       Date:  2015-12-30       Impact factor: 3.240

9.  Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.

Authors:  Chao Tian; Bethann S Hromatka; Amy K Kiefer; Nicholas Eriksson; Suzanne M Noble; Joyce Y Tung; David A Hinds
Journal:  Nat Commun       Date:  2017-09-19       Impact factor: 14.919

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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