Literature DB >> 25735261

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

Arindam Sarkar1, Lisa T Emrick, Eboni M Smith, Elise G Austin, Yaping Yang, Jill V Hunter, Fernando Scaglia, Seema R Lalani.   

Abstract

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Year:  2015        PMID： 25735261     DOI： 10.1002/ajmg.a.36948

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


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  6 in total

1.  Disease modeling of core pre-mRNA splicing factor haploinsufficiency.

Authors:  Katherine A Wood; Charlie F Rowlands; Wasay Mohiuddin Shaikh Qureshi; Huw B Thomas; Weronika A Buczek; Tracy A Briggs; Simon J Hubbard; Kathryn E Hentges; William G Newman; Raymond T O'Keefe
Journal:  Hum Mol Genet       Date:  2019-11-15       Impact factor: 6.150

Review 2.  Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Authors:  Lijia Huang; Megan R Vanstone; Taila Hartley; Matthew Osmond; Nick Barrowman; Judith Allanson; Laura Baker; Tabib A Dabir; Katrina M Dipple; William B Dobyns; Jane Estrella; Hanna Faghfoury; Francine P Favaro; Himanshu Goel; Pernille A Gregersen; Karen W Gripp; Art Grix; Maria-Leine Guion-Almeida; Margaret H Harr; Cindy Hudson; Alasdair G W Hunter; John Johnson; Shelagh K Joss; Amy Kimball; Usha Kini; Antonie D Kline; Julie Lauzon; Dorte L Lildballe; Vanesa López-González; Johanna Martinezmoles; Cliff Meldrum; Ghayda M Mirzaa; Chantal F Morel; Jenny E V Morton; Louise C Pyle; Fabiola Quintero-Rivera; Julie Richer; Angela E Scheuerle; Bitten Schönewolf-Greulich; Deborah J Shears; Josh Silver; Amanda C Smith; I Karen Temple; Jiddeke M van de Kamp; Fleur S van Dijk; Anthony M Vandersteen; Sue M White; Elaine H Zackai; Ruobing Zou; Dennis E Bulman; Kym M Boycott; Matthew A Lines
Journal:  Hum Mutat       Date:  2015-11-19       Impact factor: 4.878

3.  Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.

Authors:  Marie-Claude Beauchamp; Anissa Djedid; Eric Bareke; Fjodor Merkuri; Rachel Aber; Annie S Tam; Matthew A Lines; Kym M Boycott; Peter C Stirling; Jennifer L Fish; Jacek Majewski; Loydie A Jerome-Majewska
Journal:  Hum Mol Genet       Date:  2021-05-28       Impact factor: 6.150

4.  Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea.

Authors:  So Young Kim; Da-Hye Lee; Jin Hee Han; Byung Yoon Choi
Journal:  Diagnostics (Basel)       Date:  2020-05-12

Review 5.  The Role of the U5 snRNP in Genetic Disorders and Cancer.

Authors:  Katherine A Wood; Megan A Eadsforth; William G Newman; Raymond T O'Keefe
Journal:  Front Genet       Date:  2021-01-28       Impact factor: 4.599

6.  A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.

Authors:  Mei Yang; Yanyan Liu; Ziyuan Lin; Huaqin Sun; Ting Hu
Journal:  J Clin Lab Anal       Date:  2022-04-18       Impact factor: 3.124
  6 in total

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