Literature DB >> 28061364

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Vandana Shashi, Loren D M Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M McLaughlin, Megan Cho, Nicholas Stong, Scott E Hickey, Christine M Shuss, Michael S Freemark, Jane S Bellet, Martha Ann Keels, Melanie J Bonner, Maysantoine El-Dairi, Megan Butler, Peter G Kranz, Constance T R M Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietilainen, Palotie Aarno, Mitja I Kurki, Alexander Hoischen, Anna C Need, David B Goldstein, Fanny Kortüm.   

Abstract

Entities:  

Year:  2017        PMID： 28061364      PMCID： PMC5223056          DOI： 10.1016/j.ajhg.2016.12.004

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  5 in total

Review 1.  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

2.  Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease.

Authors:  Fang Fu; Ru Li; Ting-Ying Lei; Dan Wang; Xin Yang; Jin Han; Min Pan; Li Zhen; Jian Li; Fa-Tao Li; Xiang-Yi Jing; Dong-Zhi Li; Can Liao
Journal:  Hum Genet       Date:  2020-07-21       Impact factor: 4.132

3.  Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.

Authors:  Vishnu Anand Cuddapah; Holly A Dubbs; Laura Adang; Steven L Kugler; Elizabeth M McCormick; Zarazuela Zolkipli-Cunningham; Xilma R Ortiz-González; Shana McCormack; Elaine Zackai; Daniel J Licht; Marni J Falk; Eric D Marsh
Journal:  Am J Med Genet A       Date:  2021-03-10       Impact factor: 2.578

4.  ASXL gain-of-function truncation mutants: defective and dysregulated forms of a natural ribosomal frameshifting product?

Authors:  Adam M Dinan; John F Atkins; Andrew E Firth
Journal:  Biol Direct       Date:  2017-10-16       Impact factor: 4.540

5.  Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.

Authors:  Linfeng Yang; Bin Guo; Weiwei Zhu; Lei Wang; Bingjuan Han; Yena Che; Lingfei Guo
Journal:  BMC Pediatr       Date:  2020-06-09       Impact factor: 2.125
  5 in total

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