Literature DB >> 26996150

Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Caitlin L Hale1, Adrienne N Niederriter2, Glenn E Green3, Donna M Martin2,4,5.   

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Year:  2016        PMID： 26996150     DOI： 10.1002/ajmg.a.37629

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


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  4 in total

1.  Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.

Authors:  Catherine Bélanger; Félix-Antoine Bérubé-Simard; Elizabeth Leduc; Guillaume Bernas; Philippe M Campeau; Seema R Lalani; Donna M Martin; Stephanie Bielas; Amanda Moccia; Anshika Srivastava; David W Silversides; Nicolas Pilon
Journal:  Proc Natl Acad Sci U S A       Date:  2018-01-08       Impact factor: 11.205

2.  Sema3E is required for migration of cranial neural crest cells in zebrafish: Implications for the pathogenesis of CHARGE syndrome.

Authors:  Zhi-Zhi Liu; Jingjing Guo; Yanli Lu; Wenfeng Liu; Xiaofeng Fu; Tianbing Yao; Yanjun Zhou; Hong A Xu
Journal:  Int J Exp Pathol       Date:  2019-08-28       Impact factor: 1.925

3.  Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

Authors:  Amanda Moccia; Anshika Srivastava; Jennifer M Skidmore; John A Bernat; Marsha Wheeler; Jessica X Chong; Deborah Nickerson; Michael Bamshad; Margaret A Hefner; Donna M Martin; Stephanie L Bielas
Journal:  Genet Med       Date:  2018-01-04       Impact factor: 8.822

4.  Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome.

Authors:  Xiao Song; Xueyan Wang; Li Ding; Dan He; Jin Sun; Na Xi; Yan Yin; Hui Peng; Lingling Sun
Journal:  Mol Genet Genomic Med       Date:  2019-11-06       Impact factor: 2.183
  4 in total

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